Mustafa Emre Duygulu, Atila Yildirim, Eyyup Ayas, Nese Alyildiz, Sevdegul Aydin Mungan, Evren Fidan
Abstract Introduction KRAS mutation is observed in up to 30% of non-small-cell lung cancer (NSCLC) cases and is corelated with a poor prognosis. In the cases with KRAS p.G12C mutation and first-line chemotherapy (± immunotherapy) resistance, a targeted drug option is available. Objectives Our study aimed to examine the correlation between first-line chemotherapy agents and treatment response in patients with KRAS-mutated metastatic NSCLC. Materials and Methods Retrospective database searches were performed on cases diagnosed with metastatic NSCLC at our center between January 2019 and December 2021 that were found to be KRAS mutation positive using the next-generation sequencing (NGS) approach. The cases were classified into five subgroups based on the chemotherapy regimens (platinum + gemcitabine, platinum + taxane, platinum + pemetrexed, platinum + vinorelbine, and others). The clinical and demographic data of 41 cases were analyzed retrospectively, and survival analyses were performed using the Kaplan–Meier method. Results Thirty-seven of 41 patients (90.2%) were males, and 27 (65.9%) had adenocarcinoma histology. The most prevalent mutation was KRAS G12C, with 12 cases (29.2%), followed by KRAS G12V, with 9 cases (21.9%). Other mutations were as follows: KRAS G12D 4 (9%), KRAS G13C 3 (7.3%), KRAS G12A 2 (4.8%), KRAS G12R 2 (4.8%), KRAS Q61H 2 (4.8%), KRAS Q61L 2 (4.8%), KRAS V14I 2 (4.8%), KRAS A146T 1 (2.4%), KRAS G13G 1 (2.4%), and KRAS G1C 1 (2.4%). The median progression-free survival (mPFS) for all groups was 4.6 months (95% confidence interval [CI]: 2.7-6.5), and there were no statistically significant differences between the groups (p = 0.121). The median overall survival (mOS) for all groups was 9.3 months (95% CI: 3.8–14.5), and there were no statistically significant differences between the groups (p = 0.805). Conclusions OS and PFS analyses showed no differences between platinum + taxane, platin + pemetrexed, platinum + gemcitabine, and platin + vinorelbine used in first-line treatments for KRAS mutant NSCLC cases. We believe that patient-specific characteristics may be a determining factor in selecting chemotherapy for this patient population.
{"title":"The Effect of Chemotherapeutic Agents on Survival in Metastatic Non-Small-Cell Lung Cancer with KRAS Mutation","authors":"Mustafa Emre Duygulu, Atila Yildirim, Eyyup Ayas, Nese Alyildiz, Sevdegul Aydin Mungan, Evren Fidan","doi":"10.1055/s-0043-1775800","DOIUrl":"https://doi.org/10.1055/s-0043-1775800","url":null,"abstract":"Abstract Introduction KRAS mutation is observed in up to 30% of non-small-cell lung cancer (NSCLC) cases and is corelated with a poor prognosis. In the cases with KRAS p.G12C mutation and first-line chemotherapy (± immunotherapy) resistance, a targeted drug option is available. Objectives Our study aimed to examine the correlation between first-line chemotherapy agents and treatment response in patients with KRAS-mutated metastatic NSCLC. Materials and Methods Retrospective database searches were performed on cases diagnosed with metastatic NSCLC at our center between January 2019 and December 2021 that were found to be KRAS mutation positive using the next-generation sequencing (NGS) approach. The cases were classified into five subgroups based on the chemotherapy regimens (platinum + gemcitabine, platinum + taxane, platinum + pemetrexed, platinum + vinorelbine, and others). The clinical and demographic data of 41 cases were analyzed retrospectively, and survival analyses were performed using the Kaplan–Meier method. Results Thirty-seven of 41 patients (90.2%) were males, and 27 (65.9%) had adenocarcinoma histology. The most prevalent mutation was KRAS G12C, with 12 cases (29.2%), followed by KRAS G12V, with 9 cases (21.9%). Other mutations were as follows: KRAS G12D 4 (9%), KRAS G13C 3 (7.3%), KRAS G12A 2 (4.8%), KRAS G12R 2 (4.8%), KRAS Q61H 2 (4.8%), KRAS Q61L 2 (4.8%), KRAS V14I 2 (4.8%), KRAS A146T 1 (2.4%), KRAS G13G 1 (2.4%), and KRAS G1C 1 (2.4%). The median progression-free survival (mPFS) for all groups was 4.6 months (95% confidence interval [CI]: 2.7-6.5), and there were no statistically significant differences between the groups (p = 0.121). The median overall survival (mOS) for all groups was 9.3 months (95% CI: 3.8–14.5), and there were no statistically significant differences between the groups (p = 0.805). Conclusions OS and PFS analyses showed no differences between platinum + taxane, platin + pemetrexed, platinum + gemcitabine, and platin + vinorelbine used in first-line treatments for KRAS mutant NSCLC cases. We believe that patient-specific characteristics may be a determining factor in selecting chemotherapy for this patient population.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135477747","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}
Abstract Isolated brain involvement is rarely reported as isolated metachronous metastasis from osteosarcoma. Herein, we report a case of fibular osteosarcoma in a young female who presented with solitary hemorrhagic metachronous cerebral metastasis after years of disease-free interval. Imaging showed a large mass lesion in the right posterior temporal lobe with internal areas of bleed not associated with calcification or ossification mimicking high-grade glioma. No other sites of distant metastases were found on the workup. Two-dimensional echocardiography was done to rule out any cardiac anomaly, including the shunt defect, but no abnormality was detected. She was operated for the cerebral lesion, and histopathology of the resected specimen showed osteosarcoma. The patient was started on chemotherapy and is doing well so far. This case presents a unique scenario of osteosarcoma with an isolated lesion in the brain without any other site of distant metastasis.
{"title":"Isolated Cerebral Metachronous Metastasis in Fibular Osteosarcoma: A Rare Case Report with Review of Literature","authors":"Manoj Kumar Nayak, Sameer Rastogi, Leve Joseph Sebastian, Ghazal Tansir, Anubhav Narwal","doi":"10.1055/s-0043-1770904","DOIUrl":"https://doi.org/10.1055/s-0043-1770904","url":null,"abstract":"Abstract Isolated brain involvement is rarely reported as isolated metachronous metastasis from osteosarcoma. Herein, we report a case of fibular osteosarcoma in a young female who presented with solitary hemorrhagic metachronous cerebral metastasis after years of disease-free interval. Imaging showed a large mass lesion in the right posterior temporal lobe with internal areas of bleed not associated with calcification or ossification mimicking high-grade glioma. No other sites of distant metastases were found on the workup. Two-dimensional echocardiography was done to rule out any cardiac anomaly, including the shunt defect, but no abnormality was detected. She was operated for the cerebral lesion, and histopathology of the resected specimen showed osteosarcoma. The patient was started on chemotherapy and is doing well so far. This case presents a unique scenario of osteosarcoma with an isolated lesion in the brain without any other site of distant metastasis.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135534542","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}
Sangita A. Vanik, Dhaval Jetly, Karthik Dhandapani
Abstract Introduction Neuroendocrine neoplasms (NENs) are heterogeneous group of neoplasms with relatively low incidence. Diagnosis of NENs requires an integrated approach of histology, immunohistochemistry, and molecular study. In the present study, we evaluated insulinoma-associated protein 1 (INSM1) expression in NENs and correlated it with other established neuroendocrine markers. Materials and Method Retrospective cross-sectional study was conducted in a tertiary care center. Consecutively, 100 cases from year November 2019 to January 2021 were enrolled in the study and all relevant data were noted. Results The mean (±standard deviation) age of the patients was 55.5 (±10.6) years with a male preponderance. Total 59% of the tumors were located in the lung of which 67% were poorly differentiated neuroendocrine carcinoma. INSM1 were positive in 97% cases, while synaptophysin (SYN) in 96% and chromogranin A (CgA) in 86%. Correlation of INSM1 expression with SYN and CgA was statistically significant (p-value < 0.05). Mean H-score of INSM1 was significantly higher than SYN and CgA and it was statistically significant (p-value < 0.001). Conclusion In the present study, the expression of INSM1 was seen in 97% cases of NENs. A statistically significant association was found between INSM1 and traditional NE markers. As a nuclear marker it is easy to interpret and it showed higher H-score. We conclude that INSM1 is a highly sensitive marker and recommend to incorporate it in the routine practice to aid in the diagnostic workup. However, a larger cohort is required to establish the organ-specific sensitivity and specificity of INSM1.
{"title":"Insulinoma-Associated Protein 1 (INSM1) Expression in Neuroendocrine Neoplasms: A Newly Discovered Diagnostic Marker","authors":"Sangita A. Vanik, Dhaval Jetly, Karthik Dhandapani","doi":"10.1055/s-0043-1774777","DOIUrl":"https://doi.org/10.1055/s-0043-1774777","url":null,"abstract":"Abstract Introduction Neuroendocrine neoplasms (NENs) are heterogeneous group of neoplasms with relatively low incidence. Diagnosis of NENs requires an integrated approach of histology, immunohistochemistry, and molecular study. In the present study, we evaluated insulinoma-associated protein 1 (INSM1) expression in NENs and correlated it with other established neuroendocrine markers. Materials and Method Retrospective cross-sectional study was conducted in a tertiary care center. Consecutively, 100 cases from year November 2019 to January 2021 were enrolled in the study and all relevant data were noted. Results The mean (±standard deviation) age of the patients was 55.5 (±10.6) years with a male preponderance. Total 59% of the tumors were located in the lung of which 67% were poorly differentiated neuroendocrine carcinoma. INSM1 were positive in 97% cases, while synaptophysin (SYN) in 96% and chromogranin A (CgA) in 86%. Correlation of INSM1 expression with SYN and CgA was statistically significant (p-value < 0.05). Mean H-score of INSM1 was significantly higher than SYN and CgA and it was statistically significant (p-value < 0.001). Conclusion In the present study, the expression of INSM1 was seen in 97% cases of NENs. A statistically significant association was found between INSM1 and traditional NE markers. As a nuclear marker it is easy to interpret and it showed higher H-score. We conclude that INSM1 is a highly sensitive marker and recommend to incorporate it in the routine practice to aid in the diagnostic workup. However, a larger cohort is required to establish the organ-specific sensitivity and specificity of INSM1.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134885567","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}
Abstract Tuberculosis of the frontal bone is a rare entity, most commonly occurring in childhood. In situations of painless scalp swelling coupled with or without a discharging sinus that has not responded to antibiotics, a strong index of suspicion must be raised. Generally, conventional radiography and computed tomography are used for establishing the diagnosis along with microbiological confirmation. We present an interesting case of a young boy who presented with a 2-month-old bone lesion in the frontal scalp, accompanied by mediastinal lymph node involvement. Histopathology revealed tuberculous origin and successful antitubercular therapy resulted in significant improvement within 3 months. The calvarial bones can rarely be affected by tuberculosis, which can present with swelling, sinus discharge, pain, or in rare cases as blindness. Prompt diagnosis of this disease is needed as it is potentially curable and has an excellent prognosis. The cornerstone of treatment is antitubercular therapy, while surgical intervention may sometimes be required. Our case highlights the importance of keeping tuberculosis as a differential at the back of the mind when dealing with scalp swellings, particularly in children.
{"title":"Tuberculosis of Frontal Bone—A Rare Entity: Case Report and Review of Literature","authors":"Jeba Nazneen, Vasundhara Patil, Ujjwal Agarwal, Aashna Karbhari, Gauri Bornak, Pranjal Rai, Abhishek Mahajan","doi":"10.1055/s-0043-1772234","DOIUrl":"https://doi.org/10.1055/s-0043-1772234","url":null,"abstract":"Abstract Tuberculosis of the frontal bone is a rare entity, most commonly occurring in childhood. In situations of painless scalp swelling coupled with or without a discharging sinus that has not responded to antibiotics, a strong index of suspicion must be raised. Generally, conventional radiography and computed tomography are used for establishing the diagnosis along with microbiological confirmation. We present an interesting case of a young boy who presented with a 2-month-old bone lesion in the frontal scalp, accompanied by mediastinal lymph node involvement. Histopathology revealed tuberculous origin and successful antitubercular therapy resulted in significant improvement within 3 months. The calvarial bones can rarely be affected by tuberculosis, which can present with swelling, sinus discharge, pain, or in rare cases as blindness. Prompt diagnosis of this disease is needed as it is potentially curable and has an excellent prognosis. The cornerstone of treatment is antitubercular therapy, while surgical intervention may sometimes be required. Our case highlights the importance of keeping tuberculosis as a differential at the back of the mind when dealing with scalp swellings, particularly in children.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"330 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134886103","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}
Abstract Introduction Pediatric cancers present significant challenges in terms of diagnosis and treatment, and the anaplastic lymphoma kinase (ALK) protein has emerged as a crucial molecular target in these malignancies. ALK, a receptor tyrosine kinase, plays a vital role in normal cellular processes, but genetic alterations and aberrant activation of the ALK gene have been implicated in various pediatric cancer types. While genetic alterations have been well studied, the precise molecular mechanisms underlying the pathogenicity of the ALK protein in pediatric cancers remain poorly understood. Objective In this study, the primary objective is to uncover the molecular mechanisms associated with the effects of deleterious single-nucleotide polymorphisms (SNPs) on the structure and functionality of the ALK protein. Material and Methods Several known point mutations of the ALK protein were taken for the in silico predictions such as PolyPhen-2, SIFT, PANTHER, PredictSNP, etc., residue conservation analysis using Consurf server, molecular docking (AutoDock), and molecular dynamics simulation studies (GROMACS). Results The computation predictions found that the studied variants are deleterious in different tools. The residue conservation analysis reveals all the variants are located in highly conserved regions. The molecular docking study of wild-type and mutant structures with the crizotinib drug molecule found the variants were modulating the binding cavity and had a strong impact on the binding affinity. The binding energy of the wild-type is –5.896 kcal/mol, whereas the mutants have –9.988 kcal/mol. The specific amino acid Ala1200 of wild-type was found to interact with crizotinib, and Asp1203 residue was found to interact predominantly in the mutant structures. Conclusion The simulation study differentiates the variants in terms of structural stability and residue fluctuation. Among the studied variants, R1275Q, F1245V, and F1174L had strong deleterious effects, structural changes, and pathogenicity based on the in silico predictions. By elucidating the functional consequences of deleterious mutations within the ALK gene, this research may uncover novel therapeutic targets and personalized medicine approaches for the management of pediatric cancers. Ultimately, gaining insights into the molecular mechanisms of the ALK protein's role in driving response and resistance will contribute to improving patient outcomes and advancing our understanding of this complex disease.
{"title":"Unveiling the Molecular Mechanisms Behind the Devastating Impact of the ALK Protein on Pediatric Cancers: Insights into Deleterious SNPs through In Silico Predictions, Molecular Docking, and Dynamics Studies","authors":"Abdulhadi Almazroea","doi":"10.1055/s-0043-1771403","DOIUrl":"https://doi.org/10.1055/s-0043-1771403","url":null,"abstract":"Abstract Introduction Pediatric cancers present significant challenges in terms of diagnosis and treatment, and the anaplastic lymphoma kinase (ALK) protein has emerged as a crucial molecular target in these malignancies. ALK, a receptor tyrosine kinase, plays a vital role in normal cellular processes, but genetic alterations and aberrant activation of the ALK gene have been implicated in various pediatric cancer types. While genetic alterations have been well studied, the precise molecular mechanisms underlying the pathogenicity of the ALK protein in pediatric cancers remain poorly understood. Objective In this study, the primary objective is to uncover the molecular mechanisms associated with the effects of deleterious single-nucleotide polymorphisms (SNPs) on the structure and functionality of the ALK protein. Material and Methods Several known point mutations of the ALK protein were taken for the in silico predictions such as PolyPhen-2, SIFT, PANTHER, PredictSNP, etc., residue conservation analysis using Consurf server, molecular docking (AutoDock), and molecular dynamics simulation studies (GROMACS). Results The computation predictions found that the studied variants are deleterious in different tools. The residue conservation analysis reveals all the variants are located in highly conserved regions. The molecular docking study of wild-type and mutant structures with the crizotinib drug molecule found the variants were modulating the binding cavity and had a strong impact on the binding affinity. The binding energy of the wild-type is –5.896 kcal/mol, whereas the mutants have –9.988 kcal/mol. The specific amino acid Ala1200 of wild-type was found to interact with crizotinib, and Asp1203 residue was found to interact predominantly in the mutant structures. Conclusion The simulation study differentiates the variants in terms of structural stability and residue fluctuation. Among the studied variants, R1275Q, F1245V, and F1174L had strong deleterious effects, structural changes, and pathogenicity based on the in silico predictions. By elucidating the functional consequences of deleterious mutations within the ALK gene, this research may uncover novel therapeutic targets and personalized medicine approaches for the management of pediatric cancers. Ultimately, gaining insights into the molecular mechanisms of the ALK protein's role in driving response and resistance will contribute to improving patient outcomes and advancing our understanding of this complex disease.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134885119","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}
Abstract Childhood cancers have excellent outcomes in terms of cure rates and survival if they are diagnosed early and treated appropriately. However, there is a huge disparity in outcomes between high- and low-middle income country(ies) due to out-of-pocket expenditure, therapy abandonment, and severe infections. To bridge these gaps in outcomes, a partnership between a private medical institute and a nongovernmental organization was fostered to develop a long-stay facility for children with cancer and their families while receiving disease-directed therapies. This report aims to expound the story of development of the “Home Away from Home” program and its transformative potential and societal impact.
{"title":"Enhancing Logistic Support During Chemotherapy to Nonlocal Children with Cancer and Their Families through Home Away from Home Program","authors":"Vasudeva Bhat K., Archana Melavarige Venkatagiri, Vinay Munikoty Venkatesh, Ashwini S., Girish Nair, Ankeet Dave, Krithika Shantanu Rao, Naveen Salins, Sharath Kumar Rao","doi":"10.1055/s-0043-1771022","DOIUrl":"https://doi.org/10.1055/s-0043-1771022","url":null,"abstract":"Abstract Childhood cancers have excellent outcomes in terms of cure rates and survival if they are diagnosed early and treated appropriately. However, there is a huge disparity in outcomes between high- and low-middle income country(ies) due to out-of-pocket expenditure, therapy abandonment, and severe infections. To bridge these gaps in outcomes, a partnership between a private medical institute and a nongovernmental organization was fostered to develop a long-stay facility for children with cancer and their families while receiving disease-directed therapies. This report aims to expound the story of development of the “Home Away from Home” program and its transformative potential and societal impact.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136015042","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}
Abstract Primary central nervous system lymphoma (PCNSL) is a rare form of CNS tumor that can be managed with curative intent using high-dose chemotherapeutic drugs. High-dose methotrexate is an essential drug for the management of PCNSL. We present a case of a 26-year-old man with a known comorbidity of Crigler–Najjar syndrome type II and a baseline bilirubin of 13.5 mg/dL, presented with somnolence and ataxia. In view of hyperbilirubinemia, the optimal treatment for CNS lymphoma, the De Angelis protocol, was modified for this patient. The patient tolerated the chemotherapy well with manageable fluctuations in bilirubin levels, followed by consolidation with whole-brain radiotherapy. He remains asymptomatic 6 months after the onset of the symptoms with the disease in complete remission. We highlight here this unusual case of PCNSL where high-dose methotrexate was used with close observation of liver function in view of hyperbilirubinemia in a known case of Crigler–Najjar syndrome.
{"title":"A Case Report and Literature Review of Primary Central Nervous System Lymphoma in a Patient with Crigler–Najjar Syndrome: How We Managed","authors":"Udip Maheshwari, Disha Morzaria, Seema Jagiasi, Vashishth Maniar, Ashish Joshi, Sameer Soneji","doi":"10.1055/s-0043-1770926","DOIUrl":"https://doi.org/10.1055/s-0043-1770926","url":null,"abstract":"Abstract Primary central nervous system lymphoma (PCNSL) is a rare form of CNS tumor that can be managed with curative intent using high-dose chemotherapeutic drugs. High-dose methotrexate is an essential drug for the management of PCNSL. We present a case of a 26-year-old man with a known comorbidity of Crigler–Najjar syndrome type II and a baseline bilirubin of 13.5 mg/dL, presented with somnolence and ataxia. In view of hyperbilirubinemia, the optimal treatment for CNS lymphoma, the De Angelis protocol, was modified for this patient. The patient tolerated the chemotherapy well with manageable fluctuations in bilirubin levels, followed by consolidation with whole-brain radiotherapy. He remains asymptomatic 6 months after the onset of the symptoms with the disease in complete remission. We highlight here this unusual case of PCNSL where high-dose methotrexate was used with close observation of liver function in view of hyperbilirubinemia in a known case of Crigler–Najjar syndrome.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136015477","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}
Abstract Introduction Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of soft tissue and bone that may uncommonly occur in the liver, lung, and head and neck region. EHEs have a higher predilection for recurrence at the local site as well as distant metastasis. Surgical excision is important and is the treatment in localized diseases. A decision to give adjuvant radiotherapy should be subjective and may differ on case-to-case basis. Limited studies are available exploring the role of targeted or systemic therapy. Case Presentation A 56-year-old lady represented with right-sided submandibular region EHE with bilateral lung metastasis. The patient underwent surgery and radiotherapy followed by targeted therapy tab pazopanib for systemic control. At 2 years of follow-up, positron emission tomography-computed tomography showed local regional control and stable systemic diseases. Conclusion The uncertainty in choosing the most suitable treatment of EHE patients is high and may result in dissatisfactory outcomes among several patients. The present case study identified a treatment dilemma making management more challenging for rare EHE with mandibular involvement.
{"title":"A Case Report and Review of Literature: Epithelioid Hemangioendothelioma—An Uncommon Challenging Case","authors":"Sweta Soni, Bharti Devnani, Poonam Elhence, Kapil Soni, Deepak Vedant, Palak Gupta, Puneet Pareek, Rakesh Kumar Vyas","doi":"10.1055/s-0043-1774775","DOIUrl":"https://doi.org/10.1055/s-0043-1774775","url":null,"abstract":"Abstract Introduction Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of soft tissue and bone that may uncommonly occur in the liver, lung, and head and neck region. EHEs have a higher predilection for recurrence at the local site as well as distant metastasis. Surgical excision is important and is the treatment in localized diseases. A decision to give adjuvant radiotherapy should be subjective and may differ on case-to-case basis. Limited studies are available exploring the role of targeted or systemic therapy. Case Presentation A 56-year-old lady represented with right-sided submandibular region EHE with bilateral lung metastasis. The patient underwent surgery and radiotherapy followed by targeted therapy tab pazopanib for systemic control. At 2 years of follow-up, positron emission tomography-computed tomography showed local regional control and stable systemic diseases. Conclusion The uncertainty in choosing the most suitable treatment of EHE patients is high and may result in dissatisfactory outcomes among several patients. The present case study identified a treatment dilemma making management more challenging for rare EHE with mandibular involvement.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136014856","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}
Abstract Choriocarcinoma can be gestational and nongestational. Gestational choriocarcinoma is rare with an incidence of 9.2 in 40,000 pregnancies in Asian population. They can occur following molar, partial molar pregnancy, abortion, or delivery. It is detected by elevated levels of serum beta-human chorionic gonadotropin (beta-hCG) and by imaging modality. The need for histopathological diagnosis for choriocarcinoma is debatable. Six cases of choriocarcinoma are described with variable presentations and outcomes. Out of six cases, three were following vaginal delivery, two were after abortion, and one case was perimenopausal with antecedent pregnancy 10 years ago, unclear whether it was the cause for choriocarcinoma. Brain and lung metastasis were seen in three cases each; one case, which had metastasis to all organs, had worse prognosis and succumbed to the disease. All belonged to high-risk group according to International Federation of Gynaecology and Obstetrics score (8–13). The prognosis is usually very good, provided that prompt diagnosis and treatment are initiated early. Long-term follow-up with beta-hCG levels needs to be done to detect recurrence but it did not act like a prognostic indicator in our case series.
{"title":"A Case Series of Gestational Choriocarcinoma with Review of Literature","authors":"Anusha Tanneru, Vijith Shetty, Neetha Nandan","doi":"10.1055/s-0043-1771180","DOIUrl":"https://doi.org/10.1055/s-0043-1771180","url":null,"abstract":"Abstract Choriocarcinoma can be gestational and nongestational. Gestational choriocarcinoma is rare with an incidence of 9.2 in 40,000 pregnancies in Asian population. They can occur following molar, partial molar pregnancy, abortion, or delivery. It is detected by elevated levels of serum beta-human chorionic gonadotropin (beta-hCG) and by imaging modality. The need for histopathological diagnosis for choriocarcinoma is debatable. Six cases of choriocarcinoma are described with variable presentations and outcomes. Out of six cases, three were following vaginal delivery, two were after abortion, and one case was perimenopausal with antecedent pregnancy 10 years ago, unclear whether it was the cause for choriocarcinoma. Brain and lung metastasis were seen in three cases each; one case, which had metastasis to all organs, had worse prognosis and succumbed to the disease. All belonged to high-risk group according to International Federation of Gynaecology and Obstetrics score (8–13). The prognosis is usually very good, provided that prompt diagnosis and treatment are initiated early. Long-term follow-up with beta-hCG levels needs to be done to detect recurrence but it did not act like a prognostic indicator in our case series.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136015035","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}
Abstract Introduction Mutations in tumor suppressor gene TP53 are considered as one of the main causes for different types of cancer. Head and neck squamous cell carcinoma (HNSCC) is one of the common cancers found in India. Among the several mutations reported in the TP53 gene, R175H and R249S are linked to cause of several cancers. This work was carried out to study the prevalence of R175H and R249S mutations in HNSCC patients of Indian origin. Method Tumor samples were collected from 50 HNSCC patients and good quality genomic deoxyribonucleic acid (DNA) were obtained from 41 samples. Using this genomic DNA, polymerase chain reaction-linked restriction fragment length polymorphism technique was used to screen both the mutations in the TP53 gene of the patients. Result The results revealed that out of the 41 samples analyzed, all the samples were negative for the mutations both in homozygous and heterozygous condition. This experiment was repeated three times, and the representative image is shown. Conclusion This study suggests that mutations in codon 175 (R175H) and 249 (R249S) are rare in HNSCC patients of Indian origin.
{"title":"TP53 Mutations R175H and R249S Are Rare in Indian Head and Neck Cancer Patients","authors":"Arjita Ghosh, Anbalagan Moorthy","doi":"10.1055/s-0043-1774776","DOIUrl":"https://doi.org/10.1055/s-0043-1774776","url":null,"abstract":"Abstract Introduction Mutations in tumor suppressor gene TP53 are considered as one of the main causes for different types of cancer. Head and neck squamous cell carcinoma (HNSCC) is one of the common cancers found in India. Among the several mutations reported in the TP53 gene, R175H and R249S are linked to cause of several cancers. This work was carried out to study the prevalence of R175H and R249S mutations in HNSCC patients of Indian origin. Method Tumor samples were collected from 50 HNSCC patients and good quality genomic deoxyribonucleic acid (DNA) were obtained from 41 samples. Using this genomic DNA, polymerase chain reaction-linked restriction fragment length polymorphism technique was used to screen both the mutations in the TP53 gene of the patients. Result The results revealed that out of the 41 samples analyzed, all the samples were negative for the mutations both in homozygous and heterozygous condition. This experiment was repeated three times, and the representative image is shown. Conclusion This study suggests that mutations in codon 175 (R175H) and 249 (R249S) are rare in HNSCC patients of Indian origin.","PeriodicalId":13513,"journal":{"name":"Indian Journal of Medical and Paediatric Oncology","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136015039","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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