Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.055
Nidhi R, Vinod G, Shrivalli Bs, Vishal Ashok
Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood and represents about 75 -80% of ALL in pediatric age group. ALL is characterised by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors and replacing the bone marrow elements and other lymphoid organs by leukemic cells (ALL blasts). The 5 year survival rate for childhood ALL is about 90% overall, children in lower risk groups have a better prognosis than those in higher risk group. Risk assessment is mainly based on cytogenetic and molecular factors in addition, clinical symptoms and signs, White blood cell count at diagnosis are all recognized for stratification. In present case the cytogenetic analysis showed the presence of trisomy 5 as a sole numerical abnormality. Trisomy 5 accounts for aneuploidy change in the cytogenetic analysis. The gain or loss of whole chromosome, ie aneuploidy is a major genomic insult in human cancers. Aneuploidy is observed in ~90% of solid tumors and~60% of hematological maignancies. The increased gene expression in trisomy 5 causes chromosomal instability (CIN), microsatellite instability (MIN) and genomic instabilty which inturn causes the cancer genome to undergo evolution, adaptation and favors tumor progression in patients with B cell acute lymphoblastic leukemia.
急性淋巴细胞白血病（ALL）是儿童期最常见的恶性肿瘤，约占儿童期ALL的75-80%。急性淋巴细胞白血病的特点是不正常、不成熟的淋巴细胞及其祖细胞不受控制地增殖，白血病细胞（ALL blasts）取代骨髓细胞和其他淋巴器官。儿童 ALL 的 5 年存活率约为 90%，风险较低的儿童比风险较高的儿童预后更好。风险评估主要基于细胞遗传学和分子因素，此外，临床症状和体征、确诊时的白细胞计数也是公认的分层依据。本病例的细胞遗传学分析显示，5 三体综合征是唯一的数字异常。在细胞遗传学分析中，5 三体综合征属于非整倍体变化。整条染色体的增益或缺失，即非整倍体，是人类癌症的主要基因组损伤。在约 90% 的实体瘤和约 60% 的血液肿瘤中可观察到非整倍体。在 B 细胞急性淋巴细胞白血病患者中，5 三体综合征基因表达的增加会导致染色体不稳定（CIN）、微卫星不稳定（MIN）和基因组不稳定，进而导致癌症基因组的进化、适应和肿瘤进展。
{"title":"Case report: Pediatric acute lymphoblastic leukemia with trisomy 5 as sole cytogenetic abnormality","authors":"Nidhi R, Vinod G, Shrivalli Bs, Vishal Ashok","doi":"10.18231/j.jdpo.2023.055","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.055","url":null,"abstract":"Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood and represents about 75 -80% of ALL in pediatric age group. ALL is characterised by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors and replacing the bone marrow elements and other lymphoid organs by leukemic cells (ALL blasts). The 5 year survival rate for childhood ALL is about 90% overall, children in lower risk groups have a better prognosis than those in higher risk group. Risk assessment is mainly based on cytogenetic and molecular factors in addition, clinical symptoms and signs, White blood cell count at diagnosis are all recognized for stratification. In present case the cytogenetic analysis showed the presence of trisomy 5 as a sole numerical abnormality. Trisomy 5 accounts for aneuploidy change in the cytogenetic analysis. The gain or loss of whole chromosome, ie aneuploidy is a major genomic insult in human cancers. Aneuploidy is observed in ~90% of solid tumors and~60% of hematological maignancies. The increased gene expression in trisomy 5 causes chromosomal instability (CIN), microsatellite instability (MIN) and genomic instabilty which inturn causes the cancer genome to undergo evolution, adaptation and favors tumor progression in patients with B cell acute lymphoblastic leukemia.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138997367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.059
Shilpa Mishra, R. Patkar, A. Neelakantan
Uterine leiomyoma is the most common benign mesenchymal tumor of the uterus occurring in females of reproductive age group and are derived from smooth muscle. Degenerative changes are usual in leiomyoma. There is a wide spectrum of morphological patterns in leiomyomas, among them 90% of leiomyomas are the conventional type or usual type. Leiomyoma with bizarre nuclei is an unusual variant of uterine leiomyoma with presence of marked nuclear atypia and pleomorphism. However, there is low mitotic activity (< 5 mitoses/10 high power fields), absence of tumor cell necrosis and intermixed normal spindled smooth muscle cells. The present study describes histopathological analysis of 4 cases of leiomyoma with bizarre nuclei. All these cases underwent abdominal hysterectomy for leiomyomas in the uterus. The age range was 47 to 52 years. On gross examination the cases had well-defined masses with grey white, whorled areas and microscopic impression was leiomyoma with bizarre nuclei. These cases had low mitotic activity ranging from 1 to 3/ 10 high power fields and absence of tumor necrosis. Ki 67 index was 0.5 -1.0%. Leiomyoma with bizarre nuclei can create a diagnostic dilemma due to marked nuclear atypia, multinucleated tumor cells and karyorrhectic cells resembling mitotic figures. Hence it is important to rule out more aggressive and malignant mesenchymal tumors.
{"title":"Uterine leiomyoma with bizarre nuclei – A series of four cases","authors":"Shilpa Mishra, R. Patkar, A. Neelakantan","doi":"10.18231/j.jdpo.2023.059","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.059","url":null,"abstract":"Uterine leiomyoma is the most common benign mesenchymal tumor of the uterus occurring in females of reproductive age group and are derived from smooth muscle. Degenerative changes are usual in leiomyoma. There is a wide spectrum of morphological patterns in leiomyomas, among them 90% of leiomyomas are the conventional type or usual type. Leiomyoma with bizarre nuclei is an unusual variant of uterine leiomyoma with presence of marked nuclear atypia and pleomorphism. However, there is low mitotic activity (< 5 mitoses/10 high power fields), absence of tumor cell necrosis and intermixed normal spindled smooth muscle cells. The present study describes histopathological analysis of 4 cases of leiomyoma with bizarre nuclei. All these cases underwent abdominal hysterectomy for leiomyomas in the uterus. The age range was 47 to 52 years. On gross examination the cases had well-defined masses with grey white, whorled areas and microscopic impression was leiomyoma with bizarre nuclei. These cases had low mitotic activity ranging from 1 to 3/ 10 high power fields and absence of tumor necrosis. Ki 67 index was 0.5 -1.0%. Leiomyoma with bizarre nuclei can create a diagnostic dilemma due to marked nuclear atypia, multinucleated tumor cells and karyorrhectic cells resembling mitotic figures. Hence it is important to rule out more aggressive and malignant mesenchymal tumors.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139000656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.045
Sushma P Kulkarni
Dietary advices in the form of dietary guidelines help immensely in the management of health and disease, more so in the management of cancer patient. The objective of this study is to emphasize the need for standardized dietary guidelines which will guide the cancer patients and the medical fraternity involved in the management of cancer patient. Thorough search was done from recognized authorities for the available dietary guidelines for cancer patients. We also performed literature search with the use of PubMed, and Google Scholar as our database articles citing the benefits of dietary intervention in cancer management. Only the guidelines and dietary advices in the management of cancer patients which were given by the authorized bodies were considered. The dietary guidelines for cancer patients that we found after thorough search are very few. These guidelines have remained the same for decades now and need revival. There is a strong need for standardized dietary advices given by the concerned authorities to guide the medical fraternity to help to support the cancer patients in a better and confident way. More and more studies are required to standardize the dietary requirements during cancer management. The process, though herculean, can begin with simple and short guidelines for the dietary management of common health concerns during cancer treatment. With the help of outcomes of larger studies in this domain, more appropriate guidelines can be formulated.
膳食指南形式的膳食建议对健康和疾病管理大有帮助，对癌症患者的管理更是如此。本研究旨在强调标准化饮食指南的必要性，这些指南将为癌症患者和参与癌症患者管理的医学界提供指导。我们从公认的权威机构彻底搜索了现有的癌症患者饮食指南。我们还使用 PubMed 和 Google Scholar 作为数据库，对引用饮食干预在癌症治疗中的益处的文章进行了文献检索。我们只考虑了由权威机构提供的癌症患者饮食指南和饮食建议。经过彻底搜索，我们发现针对癌症患者的饮食指南非常少。这些指南几十年来一直未变，需要重新修订。我们亟需有关机构提供标准化的饮食建议，以指导医学界更好、更有信心地帮助癌症患者。需要进行越来越多的研究，以规范癌症治疗期间的饮食要求。这一过程虽然艰巨，但可以从癌症治疗期间常见健康问题的简明饮食管理指南开始。在这一领域大型研究成果的帮助下，可以制定出更合适的指南。
{"title":"The need for standardized dietary guidelines for cancer patients - with review of literature from governing bodies","authors":"Sushma P Kulkarni","doi":"10.18231/j.jdpo.2023.045","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.045","url":null,"abstract":"Dietary advices in the form of dietary guidelines help immensely in the management of health and disease, more so in the management of cancer patient. The objective of this study is to emphasize the need for standardized dietary guidelines which will guide the cancer patients and the medical fraternity involved in the management of cancer patient. Thorough search was done from recognized authorities for the available dietary guidelines for cancer patients. We also performed literature search with the use of PubMed, and Google Scholar as our database articles citing the benefits of dietary intervention in cancer management. Only the guidelines and dietary advices in the management of cancer patients which were given by the authorized bodies were considered. The dietary guidelines for cancer patients that we found after thorough search are very few. These guidelines have remained the same for decades now and need revival. There is a strong need for standardized dietary advices given by the concerned authorities to guide the medical fraternity to help to support the cancer patients in a better and confident way. More and more studies are required to standardize the dietary requirements during cancer management. The process, though herculean, can begin with simple and short guidelines for the dietary management of common health concerns during cancer treatment. With the help of outcomes of larger studies in this domain, more appropriate guidelines can be formulated.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138995860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.050
Kafil Akhtar, Mazhar Saba, Adiba Khan, Masheera Akhtar
Prostate specific antigen (PSA) is a glycoprotein produced by prostatic acini and prostatic tissue. Its concentration increases in prostatic diseases. Concentration above 4 ng/ml is considered abnormal but there is no clear-cut point between normal and abnormal PSA levels. PSA is considered as serum marker for prostatic cancer but it is organ specific, not cancer specific. Digital rectal examination (DRE) is a routine part of prostate cancer screening. Biopsies are performed when PSA test and DRE are abnormal. The study is an attempt for comparative analysis among serum PSA, age, DRE, and biopsy results for the institution of specific treatment at an early stage. Study was performed on 200 patients with different prostatic lesions in the Department of Pathology, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh. Clinical, DRE, PSA and histopathological biopsy were performed and analyzed by correlating the data. In our study 77.5% had normal (0-4 ng/ml) PSA level and 13.5% had >10 ng/ml PSA levels. BPH was the most common diagnosis (54.0%), followed by prostatitis (20.0%), BPH with prostatitis in 16.0% and carcinoma (10.0%). Serum PSA with positive DRE ranged from 1.2 ng/ml to 56 ng/ml while in negative DRE ranged from 0.18 ng/ml to 9.6 ng/ml. PSA is specific for prostate but not for prostatic diseases. With increasing age serum PSA also increases. Conjunction of serum PSA with other variables like age, DRE and biopsy makes a better diagnosis of prostatic diseases.
{"title":"Triad of serum PSA, DRE and biopsy in diagnosing prostatic diseases- How useful it is?","authors":"Kafil Akhtar, Mazhar Saba, Adiba Khan, Masheera Akhtar","doi":"10.18231/j.jdpo.2023.050","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.050","url":null,"abstract":"Prostate specific antigen (PSA) is a glycoprotein produced by prostatic acini and prostatic tissue. Its concentration increases in prostatic diseases. Concentration above 4 ng/ml is considered abnormal but there is no clear-cut point between normal and abnormal PSA levels. PSA is considered as serum marker for prostatic cancer but it is organ specific, not cancer specific. Digital rectal examination (DRE) is a routine part of prostate cancer screening. Biopsies are performed when PSA test and DRE are abnormal. The study is an attempt for comparative analysis among serum PSA, age, DRE, and biopsy results for the institution of specific treatment at an early stage. Study was performed on 200 patients with different prostatic lesions in the Department of Pathology, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh. Clinical, DRE, PSA and histopathological biopsy were performed and analyzed by correlating the data. In our study 77.5% had normal (0-4 ng/ml) PSA level and 13.5% had >10 ng/ml PSA levels. BPH was the most common diagnosis (54.0%), followed by prostatitis (20.0%), BPH with prostatitis in 16.0% and carcinoma (10.0%). Serum PSA with positive DRE ranged from 1.2 ng/ml to 56 ng/ml while in negative DRE ranged from 0.18 ng/ml to 9.6 ng/ml. PSA is specific for prostate but not for prostatic diseases. With increasing age serum PSA also increases. Conjunction of serum PSA with other variables like age, DRE and biopsy makes a better diagnosis of prostatic diseases.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138997188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.057
M. Mohapatro, Milan Tripathy, Swatismita Sahoo, Deepika Mishra, Alakananda Balbantray, Shushruta Mohanty
Mediastinal schwannomas are rare tumors that develop from peripheral nerve sheath in the mediastinum. Most commonly they are located in posterior mediastinum and are very unusual in anterior mediastinum like the present study of a 51 year old male. He presented with breathlessness, dyspnea and cough for 3 months. Radiological imaging, CT scan reports revealed a cystic SOL in anterior superior mediastinum. The patient underwent thoracotomy and on histopathological examination revealed features of schwannoma which was further confirmed by immunohistochemical study with S-100 protein. Prognosis is good for such tumours and no recurrence is yet reported.
{"title":"Anterior mediastinal schwannoma: A rare case report","authors":"M. Mohapatro, Milan Tripathy, Swatismita Sahoo, Deepika Mishra, Alakananda Balbantray, Shushruta Mohanty","doi":"10.18231/j.jdpo.2023.057","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.057","url":null,"abstract":"Mediastinal schwannomas are rare tumors that develop from peripheral nerve sheath in the mediastinum. Most commonly they are located in posterior mediastinum and are very unusual in anterior mediastinum like the present study of a 51 year old male. He presented with breathlessness, dyspnea and cough for 3 months. Radiological imaging, CT scan reports revealed a cystic SOL in anterior superior mediastinum. The patient underwent thoracotomy and on histopathological examination revealed features of schwannoma which was further confirmed by immunohistochemical study with S-100 protein. Prognosis is good for such tumours and no recurrence is yet reported.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138996863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.058
R. Hawaldar, Shana N S Khan
Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.
{"title":"Acute intermittent porphyria (AIP) in 27 year old female patient- Case report","authors":"R. Hawaldar, Shana N S Khan","doi":"10.18231/j.jdpo.2023.058","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.058","url":null,"abstract":"Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138998054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.056
B. Thakur, Seema Acharya, Sucheta Bansal, Priti Mishra
Myeloid sarcoma is a rare extramedullary tumor of immature myeloid cells that can be composed of cells showing granulocytic or monocytic differentiation. It is frequently detected as masses in subcutaneous soft tissue, bone, skin, GIT, reproductive organs, CNS, heart, lungs, kidney and breast. We report a pediatric case of myeloid sarcoma presenting with bilateral ovarian masses.A 12 years old female presented with complaints of fever, lethargy, decreased appetite and easy fatiguability. Patient further developed swelling and pain in large joints along with slurring of speech and difficulty in swallowing. Examination revealed polyserositis along with hepatosplenomegaly. ANA IFA profile was positive. CECT abdomen showed heterogeneous lesions in bilateral adnexae along with a few enlarged matted lymph nodes in left para-aortic region (?Neoplastic/ ?Histiocytosis/ ?EM hematopoiesis). GBP was suggestive of leucoerythroblastic reaction. BM study with flowcytometry was suggestive of Acute myeloid leukemia with monocytic differentiation. Biopsy from both adnexae showed features consistent with poorly differentiated malignancy, favour haematolymphoid neoplasm. Immunophenotyping by IHC showed the cells to be positive for CD45 (dim), MPO & CD117, thus establishing diagnosis of Myeloid sarcoma, both ovaries.Myeloid sarcoma is uncommon ovarian neoplasm and the clinical presentation may be with or without acute leukemia / MPN. Immunohistochemistry and ancillary studies are necessary to recognize this entity.
{"title":"Ovarian myeloid sarcoma with concurrent acute myeloid leukemia- A case report","authors":"B. Thakur, Seema Acharya, Sucheta Bansal, Priti Mishra","doi":"10.18231/j.jdpo.2023.056","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.056","url":null,"abstract":"Myeloid sarcoma is a rare extramedullary tumor of immature myeloid cells that can be composed of cells showing granulocytic or monocytic differentiation. It is frequently detected as masses in subcutaneous soft tissue, bone, skin, GIT, reproductive organs, CNS, heart, lungs, kidney and breast. We report a pediatric case of myeloid sarcoma presenting with bilateral ovarian masses.A 12 years old female presented with complaints of fever, lethargy, decreased appetite and easy fatiguability. Patient further developed swelling and pain in large joints along with slurring of speech and difficulty in swallowing. Examination revealed polyserositis along with hepatosplenomegaly. ANA IFA profile was positive. CECT abdomen showed heterogeneous lesions in bilateral adnexae along with a few enlarged matted lymph nodes in left para-aortic region (?Neoplastic/ ?Histiocytosis/ ?EM hematopoiesis). GBP was suggestive of leucoerythroblastic reaction. BM study with flowcytometry was suggestive of Acute myeloid leukemia with monocytic differentiation. Biopsy from both adnexae showed features consistent with poorly differentiated malignancy, favour haematolymphoid neoplasm. Immunophenotyping by IHC showed the cells to be positive for CD45 (dim), MPO & CD117, thus establishing diagnosis of Myeloid sarcoma, both ovaries.Myeloid sarcoma is uncommon ovarian neoplasm and the clinical presentation may be with or without acute leukemia / MPN. Immunohistochemistry and ancillary studies are necessary to recognize this entity.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139000944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.048
Ritu Mehta, Pratibha Ghosh, Sibin M.K.
Lung cancer is the leading cause of morbidity and mortality worldwide. It is usually diagnosed in advance stage. miRNA present in serum and pleural fluid can be studied for early diagnosis of lung cancer. Present study was carried out to evaluate whether miRNA can be used as biomarkers in diagnosis of non small cell lung cancer. The study was intended to find the non-invasive tumour biomarkers for presence of lung malignancy with the intent of instituting early diagnosis to reduce lung cancer related mortality. The aim of the study was to evaluate circulating microRNA expression in adenocarcinoma and squamous cell carcinoma lung in comparison with age and sex matched healthy controls. The expression of these miRNA was correlated with histopathology and/or immunohistochemistry. The circulating miRNA expression in age and sex matched non-smoking healthy controls was also noted. It was a Prospective observational study in which 50 cases of non small cell lung cancer was included. 50 healthy non smoker volunteers (control group, well adjusted to the patients according to the age and sex) were also included in the study. About 5 ml of serum and wherever possible pleural fluid was collected in the sterile container. The sample was allowed to stand at room temperature for one hour, and then samples were centrifuged at 1300g for ten minutes at room temperature.RNA was extracted using miRNeasy mini kit (Cat no. 217004) and quantative PCR was done. The patients age, sex, histopathological results, clinical staging, immunohistochemistry, presence of pleural effusion. Expression of mi RNA (miRNA 21, miRNA 17-92 cluster, miRNA 221/222, miRNA Let- 7, miRNA 34 and miRNA 200) were studied. Out of 50 patients of suspected lung cancer 17 were females (34%) and 33 (66%) were males. Mean age of presentation was 63.26 years. 37 patients gave history of smoking (74%) while 13 patients were non Smokers (26%). 29 patients (58%) showed histomorphological features suggestive of adenocarcinoma whereas 21 patients (42%) showed histomorphological features of squamous cell carcinoma. EGFR mutation was seen in 10 patients (34%). Pleural effusion was present in 20 cases.Statistically significant correlation was found between the expression of miRNA in healthy controls and in lung cancer patients. All the tested miRNAs were significantly correlated with the corresponding expression in the healthy control. As compared to healthy controls that let-7, miR-34 and miR-200 were downregulated in lung cancer patients whereas miRNA-221, miRNA 17-92, miRNA-21 were upregulated in lung cancer patients. miR 34, miR 200 and let 7 was detected in healthy controls also. No statically significant correlation of miRNA with age, sex, smoking, histopathological type, grade of tumor, stage of disease, EGFR mutation and IHC was found. Stastically significant correlation was found between miRNA 200 and pleural effusion patients. Present study concludes that miRNA can be a potential biomarker for diagn
{"title":"Role of liquid biopsy in non small cell lung cancer","authors":"Ritu Mehta, Pratibha Ghosh, Sibin M.K.","doi":"10.18231/j.jdpo.2023.048","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.048","url":null,"abstract":"Lung cancer is the leading cause of morbidity and mortality worldwide. It is usually diagnosed in advance stage. miRNA present in serum and pleural fluid can be studied for early diagnosis of lung cancer. Present study was carried out to evaluate whether miRNA can be used as biomarkers in diagnosis of non small cell lung cancer. The study was intended to find the non-invasive tumour biomarkers for presence of lung malignancy with the intent of instituting early diagnosis to reduce lung cancer related mortality. The aim of the study was to evaluate circulating microRNA expression in adenocarcinoma and squamous cell carcinoma lung in comparison with age and sex matched healthy controls. The expression of these miRNA was correlated with histopathology and/or immunohistochemistry. The circulating miRNA expression in age and sex matched non-smoking healthy controls was also noted. It was a Prospective observational study in which 50 cases of non small cell lung cancer was included. 50 healthy non smoker volunteers (control group, well adjusted to the patients according to the age and sex) were also included in the study. About 5 ml of serum and wherever possible pleural fluid was collected in the sterile container. The sample was allowed to stand at room temperature for one hour, and then samples were centrifuged at 1300g for ten minutes at room temperature.RNA was extracted using miRNeasy mini kit (Cat no. 217004) and quantative PCR was done. The patients age, sex, histopathological results, clinical staging, immunohistochemistry, presence of pleural effusion. Expression of mi RNA (miRNA 21, miRNA 17-92 cluster, miRNA 221/222, miRNA Let- 7, miRNA 34 and miRNA 200) were studied. Out of 50 patients of suspected lung cancer 17 were females (34%) and 33 (66%) were males. Mean age of presentation was 63.26 years. 37 patients gave history of smoking (74%) while 13 patients were non Smokers (26%). 29 patients (58%) showed histomorphological features suggestive of adenocarcinoma whereas 21 patients (42%) showed histomorphological features of squamous cell carcinoma. EGFR mutation was seen in 10 patients (34%). Pleural effusion was present in 20 cases.Statistically significant correlation was found between the expression of miRNA in healthy controls and in lung cancer patients. All the tested miRNAs were significantly correlated with the corresponding expression in the healthy control. As compared to healthy controls that let-7, miR-34 and miR-200 were downregulated in lung cancer patients whereas miRNA-221, miRNA 17-92, miRNA-21 were upregulated in lung cancer patients. miR 34, miR 200 and let 7 was detected in healthy controls also. No statically significant correlation of miRNA with age, sex, smoking, histopathological type, grade of tumor, stage of disease, EGFR mutation and IHC was found. Stastically significant correlation was found between miRNA 200 and pleural effusion patients. Present study concludes that miRNA can be a potential biomarker for diagn","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139001291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-15DOI: 10.18231/j.jdpo.2023.052
Nakul Y Sampat, A. Valand, Rakshak Dinesh Prajapati, Pervaiz Ahmed Khan, Pradeep Wagh
Acute myeloid leukemia (AML) is a hematological malignancy characterized by the abnormal proliferation of myeloid cells in the bone marrow. Symptoms include fatigue, frequent infections, easy bruising or bleeding, and shortness of breath. Filariasis is a parasitic infection caused by filarial worms (a nematode) transmitted through mosquito bites from infected individuals, leading to chronic lymphatic dysfunction, lymphedema, hydrocele, and elephantiasis. Here, we present the case of a 38-year-old male who was diagnosed with acute myeloid leukemia without maturation (M1) and an incidental finding of microfilariae in a peripheral blood smear. Interestingly, there was no accompanying eosinophilia in this case. This coexistence of filariasis and AML poses diagnostic challenges, as eosinophilia may not be a reliable indicator. Treatment options include Diethylcarbamazine, Ivermectin, Albendazole and Doxycycline for filarial and chemotherapy and stem cell transplantation for AML (M1). The prognosis for the patient is poor.
{"title":"Incidental association: Acute myeloid leukemia and filariasis - A case report","authors":"Nakul Y Sampat, A. Valand, Rakshak Dinesh Prajapati, Pervaiz Ahmed Khan, Pradeep Wagh","doi":"10.18231/j.jdpo.2023.052","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.052","url":null,"abstract":"Acute myeloid leukemia (AML) is a hematological malignancy characterized by the abnormal proliferation of myeloid cells in the bone marrow. Symptoms include fatigue, frequent infections, easy bruising or bleeding, and shortness of breath. Filariasis is a parasitic infection caused by filarial worms (a nematode) transmitted through mosquito bites from infected individuals, leading to chronic lymphatic dysfunction, lymphedema, hydrocele, and elephantiasis. Here, we present the case of a 38-year-old male who was diagnosed with acute myeloid leukemia without maturation (M1) and an incidental finding of microfilariae in a peripheral blood smear. Interestingly, there was no accompanying eosinophilia in this case. This coexistence of filariasis and AML poses diagnostic challenges, as eosinophilia may not be a reliable indicator. Treatment options include Diethylcarbamazine, Ivermectin, Albendazole and Doxycycline for filarial and chemotherapy and stem cell transplantation for AML (M1). The prognosis for the patient is poor.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138998414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Recent WHO classification (5 edition) has included Acute Myeloid Leukaemia (AML) with mutations in NPM1, CEBPA as separate entities along with AML with cytogenetic abnormalities in AML with recurrent genetic abnormalities. Even though C-kit and FLT3 mutations in AML have no diagnostic importance, prognostic significance in different subtypes of AML for the presence of these mutations are not the same.To assess the correlation between French American British (FAB) AML classification, specific cytogenetic abnormalities with C-kit, and FLT3 mutation in AML and to evaluate the prognosis and survival of AML patients with respect to cytogenetic abnormalities and C-kit and FLT3 mutation status. Retrospectively all AML cases in which C-kit and FLT3 mutation status was assessed were retrieved; C-kit D816V mutation status had been assessed by Real time PCR; For FLT3 mutation, both Internal tandem duplication (ITD) and D835V mutation status had been assessed using PCR and gel electrophoresis; The data regarding morphological with immunophenotypic diagnosis, conventional karyotyping, FISH for translocation 8;21 (t (8;21)) and inversion16 / translocation16;16 (t (16;16) were also retrieved in all these cases along with follow-up from hospital records. Total 75 cases were included; Male/ Female ratio was 1.21:1 (41/34); Median age was 31 (Range: 2 - 64); 18 cases had translocation 8;21 (t (8;21)); 3 cases showed inversion16 / translocation16;16 (t (16;16); Out of the 18 cases which showed t (8;21), 10 cases had associated loss of sex chromosome. Eight cases had C-kit D816V mutation; three of which had t (8;21) while two had inversion 16. 12 cases had FLT3 mutations among which nine were ITD while three had D835V mutation. On karyotyping, one of these cases showed hyperdiploidy while the majority had normal karyotype. A single case had both C-kit D816V mutation and FLT3 D835V mutation with inversion 16 on karyotyping; Most common type of AML in both cases with FLT3 mutation and C-kit mutation was AML-M2 (FAB); Commonest karyotyping abnormality for cases with C-kit mutation was t(8;21); while for FLT3 mutation, the majority had normal karyotype; The single case which had both C-kit D816V mutation and FLT3 D835V mutation was alive event-free at three-year follow-up. Both FLT3 ITD and TKD mutations had a worse prognosis in our study. However, AML cases with C-kit mutation had a similar prognosis comparable to C kit negative cases. A large-scale study is required to elucidate the significance of this.
{"title":"C-Kit and Flt3 mutation status in acute myeloid leukaemia with cytogenetic correlation and prognosis: A series of 75 cases","authors":"Biren Parikh, Karthik Dhandapani, Sunitha Shankaralingappa, Udaya Sundarajan, Jayendrakumar Patel, Disha Jethva","doi":"10.18231/j.jdpo.2023.051","DOIUrl":"https://doi.org/10.18231/j.jdpo.2023.051","url":null,"abstract":"Recent WHO classification (5 edition) has included Acute Myeloid Leukaemia (AML) with mutations in NPM1, CEBPA as separate entities along with AML with cytogenetic abnormalities in AML with recurrent genetic abnormalities. Even though C-kit and FLT3 mutations in AML have no diagnostic importance, prognostic significance in different subtypes of AML for the presence of these mutations are not the same.To assess the correlation between French American British (FAB) AML classification, specific cytogenetic abnormalities with C-kit, and FLT3 mutation in AML and to evaluate the prognosis and survival of AML patients with respect to cytogenetic abnormalities and C-kit and FLT3 mutation status. Retrospectively all AML cases in which C-kit and FLT3 mutation status was assessed were retrieved; C-kit D816V mutation status had been assessed by Real time PCR; For FLT3 mutation, both Internal tandem duplication (ITD) and D835V mutation status had been assessed using PCR and gel electrophoresis; The data regarding morphological with immunophenotypic diagnosis, conventional karyotyping, FISH for translocation 8;21 (t (8;21)) and inversion16 / translocation16;16 (t (16;16) were also retrieved in all these cases along with follow-up from hospital records. Total 75 cases were included; Male/ Female ratio was 1.21:1 (41/34); Median age was 31 (Range: 2 - 64); 18 cases had translocation 8;21 (t (8;21)); 3 cases showed inversion16 / translocation16;16 (t (16;16); Out of the 18 cases which showed t (8;21), 10 cases had associated loss of sex chromosome. Eight cases had C-kit D816V mutation; three of which had t (8;21) while two had inversion 16. 12 cases had FLT3 mutations among which nine were ITD while three had D835V mutation. On karyotyping, one of these cases showed hyperdiploidy while the majority had normal karyotype. A single case had both C-kit D816V mutation and FLT3 D835V mutation with inversion 16 on karyotyping; Most common type of AML in both cases with FLT3 mutation and C-kit mutation was AML-M2 (FAB); Commonest karyotyping abnormality for cases with C-kit mutation was t(8;21); while for FLT3 mutation, the majority had normal karyotype; The single case which had both C-kit D816V mutation and FLT3 D835V mutation was alive event-free at three-year follow-up. Both FLT3 ITD and TKD mutations had a worse prognosis in our study. However, AML cases with C-kit mutation had a similar prognosis comparable to C kit negative cases. A large-scale study is required to elucidate the significance of this.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139000176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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