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Metastatic GIST with a TWIST of RCC: A case report 转移性 GIST 伴有 RCC 的 TWIST:病例报告
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.043
Vaishnavi Ganesan, Mrunal V. Kesari, Y. Patil, Indranil Bhattacharya
Gastrointestinal Stromal Tumors (GIST) is a tumor of mesenchymal origin in the digestive tract, arising from Interstitial cells of Cajal. Majorly, they are an incidental finding in people of older age group (>60 years) with very rare bone metastasis. Our aim is to understand the role of genetic mutations in metastasis of GIST and coexistence of other malignancy in the same patient. We present an unusual case of a 75-year-old male with jejunal GIST, managed with resection of the tumor and imatinib, who 15 years later presented with subsequent liver, rare femoral head metastases and coexisting Renal Cell Carcinoma in left kidney. GIST cases can be associated with different syndromes and malignancies. This necessitates additional work up and long term follow up.
胃肠间质瘤(GIST)是消化道中的一种间质来源肿瘤,由卡贾尔间质细胞(Interstitial cells of Cajal)产生。胃肠间质瘤主要是老年人(60 岁以上)的偶然发现,骨转移非常罕见。我们的目的是了解基因突变在 GIST 转移中的作用,以及同一患者同时患有其他恶性肿瘤的情况。我们介绍了一例不寻常的病例,患者是一名75岁的男性,患有空肠GIST,曾接受肿瘤切除术和伊马替尼治疗,15年后出现肝转移、罕见的股骨头转移和左肾肾细胞癌并存。GIST 病例可能伴有不同的综合征和恶性肿瘤。这就需要进行额外的检查和长期随访。
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引用次数: 0
MMR status of colorectal carcinomas at a tertiary cancer care centre in Central India 印度中部一家三级癌症治疗中心结直肠癌的 MMR 状态
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.031
Meena Pangarkar, Satabdi Das, Radhika Pagey, Shweta Deulkar, Shraddha Mahindra, Yogita Devi, Anand Pathak
Microsatellite instability (MSI) and mismatch repair (MMR) deficiency are important biomarkers in colorectal cancer (CRC) that have clinical implications for patient management and treatment. MMR deficiency can lead to MSI, which is characterized by alterations in the length of microsatellite DNA sequences. Clinical applications of MMR deficiency in colorectal adenocarcinoma are as a prognostic marker as well as Predictive marker for adjuvant chemotherapy and immunotherapy. To assess the MMR status of colorectal adenocarcinomas.: This was a retrospective study of 127 colorectal adenocarcinomas cases. All the samples were either biopsies or surgically resected tumor tissues from patients of Carcinoma Colon and rectum. Immunohistochemistry was performed on Roche Ventana Benchmark XT autostainer.: MLH-1, PMS2, MSH2 and MSH6 expression was retained in the tumor cells in 106 cases and it was lost in 21 cases. Among various clinicopathological variables, tumor site and AJCC pStage were found to be significantly associated with dMMR tumors. Patients of colorectal adenocarcinomas were benefited by MMR testing as it influenced the adjuvant treatment in all Stage IIA cases as well as all metastatic cases. Incorporating MMR testing into routine clinical practice can help optimize patient management and treatment strategies in CRC.
微卫星不稳定性(MSI)和错配修复(MMR)缺陷是结直肠癌(CRC)的重要生物标志物,对患者管理和治疗具有临床意义。错配修复缺陷可导致 MSI,MSI 的特征是微卫星 DNA 序列长度的改变。MMR缺乏在结直肠腺癌中的临床应用是作为预后标志以及辅助化疗和免疫治疗的预测标志。为了评估结直肠腺癌中 MMR 的状况,研究人员进行了一项回顾性研究:这是一项对 127 例结直肠腺癌进行的回顾性研究。所有样本均来自结肠癌和直肠癌患者的活组织切片或手术切除的肿瘤组织。免疫组化在罗氏 Ventana Benchmark XT 自动染色机上进行:106例肿瘤细胞中保留了MLH-1、PMS2、MSH2和MSH6的表达,21例肿瘤细胞中失去了MLH-1、PMS2、MSH2和MSH6的表达。在各种临床病理变量中,发现肿瘤部位和 AJCC p 分期与 dMMR 肿瘤显著相关。结直肠腺癌患者可从 MMR 检测中获益,因为它影响了所有 IIA 期病例和所有转移性病例的辅助治疗。将MMR检测纳入常规临床实践有助于优化CRC患者的管理和治疗策略。
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引用次数: 0
Primary ovarian squamous cell carcinoma arising from an epidermoid cyst of Ovary- A rare case report with review of literature 卵巢表皮样囊肿引发的原发性卵巢鳞状细胞癌--罕见病例报告及文献综述
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.037
Gowthami Nagendran, Bushra Siddiqui, Arshi Khan, Heba Khalid
Primary ovarian squamous cell carcinoma is a rare entity that usually arises from the malignant transformation of a mature cystic teratoma, endometriosis or Brenner’s tumor. The denovo occurrence of primary squamous cell carcinoma of the ovary without prior lesion is a rare entity accounting for less than 1%. However, ovarian squamous cell carcinoma arising from an epidermoid cyst is an infrequent entity and only one case has been reported in literature. The prognosis of such cases is quite poor and there are no definite guidelines for treatment. Here we present a case of a 50-year-old female diagnosed with primary ovarian squamous cell carcinoma arising from an epidermoid cyst of the ovary who was treated with surgery followed by chemotherapy along with the review of literature.
原发性卵巢鳞状细胞癌是一种罕见病,通常由成熟的囊性畸胎瘤、子宫内膜异位症或布伦纳瘤恶变而来。卵巢原发性鳞状细胞癌是一种罕见病,发病前无任何病变,发病率不到 1%。然而,由表皮样囊肿引发的卵巢鳞状细胞癌并不常见,文献中仅有一例报道。这类病例的预后很差,也没有明确的治疗指南。在此,我们介绍了一例 50 岁女性卵巢表皮样囊肿原发性卵巢鳞状细胞癌的病例,该患者接受了手术治疗和化疗,并回顾了相关文献。
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引用次数: 0
IRIDA- An Indian perspective IRIDA--印度视角
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.026
Preeti Tripathi, Rama Hariharan, Umesh Kapoor
Iron deficiency anemia (IDA) is the most common type of anemia globally (IDA), the treatment being iron supplementation. However, in a few individuals, there is absent to suboptimal response to iron supplementation due to iron not being taken up by the body of the individual. This condition is known as iron-refractory IDA (IRIDA). Iron refractory iron deficiency anemia is a rare genetic condition that follows an autosomal recessive inheritance due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation, and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in adulthood. The disease is refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia. This condition is likely being missed or under-diagnosed in our iron deficient endemic setting due to a lack of general awareness amongst physicians in establishing the diagnosis or due to the lack of availability of proper genetic testing.
缺铁性贫血(IDA)是全球最常见的贫血类型,治疗方法是补充铁剂。然而,在少数人中,由于铁未被人体吸收,对铁补充剂的反应不明显或不理想。这种情况被称为难治性缺铁性贫血(IRIDA)。难治性缺铁性贫血是一种罕见的遗传病,由于编码 Matriptase-2 的 TMPRSS6 基因缺陷而导致常染色体隐性遗传。该蛋白是一种跨膜丝氨酸蛋白酶,在下调铁稳态的关键调节因子血红素方面发挥着重要作用。这种疾病的特征是小细胞低色素性贫血、低转铁蛋白饱和度和正常/高血清降血钙素值。贫血在出生后即已出现,但也有在成年后才确诊的病例。该病对口服铁剂治疗难治,但对静脉注射铁剂反应缓慢,贫血可得到部分纠正。在我国缺铁性贫血流行的环境中,这种疾病很可能被漏诊或诊断不足,原因是医生对确诊缺乏普遍认识,或缺乏适当的基因检测手段。
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引用次数: 0
Demographic profile of thyroid malignancies in a tertiary care centre in South India 印度南部一家三级医疗中心甲状腺恶性肿瘤的人口统计学概况
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.029
G. A. Vasugi, Giri Pranav, Karthika Padmavathy, Divya Dhanabal, Arthi Arun
: Thyroid carcinomas were significantly on the rise all over the world, with 5.86 lakh new cases and 43,664 deaths reported in 2020. In this study, we focused on a detailed analysis pertaining to the incidence and demographic profile of all histological types of thyroid malignancies. : All cases of thyroid carcinomas reported in the department of Pathology at a tertiary care center in South India from January 2016-December 2020 were included in this study. The demographic profile and patient details were obtained from the medical records section. Pathology reports of the included cases were retrieved, and associated factors were analysed. : Out of the 98 cases included in the study, 16 cases (16.3%) were below 30 years of age, 44 cases (44.9%) were 30-50 years of age and 38 cases (38.8%) were above 50 years of age. The mean age was 45.78. Female preponderance was noted, with 66 cases (67.3%) being females and 32 cases (32.65%) were males. The histopathology results revealed 90 cases (91.8%) to be papillary carcinoma, 1 case (1.02%) of medullary carcinoma, 1 case (1.02%) of Insular carcinoma, 5 cases (5.102%) of follicular carcinoma and 1 case (1.02%) of anaplastic carcinoma. Most of the cases were classified as T1 tumours (45.91%) under the TNM classification. 24 cases (24.49%) were graded as N1 (Metastasis to regional nodes). 3 cases (3.06%) exhibited distant metastasis. Majority of the cases (71.42%) were samples from a total thyroidectomy procedure. : In our demographic study, we have noted that thyroid carcinomas have a peak incidence in the fourth decade of life with a female preponderance. Majority of the cases were noted to be papillary carcinomas in histological type. Understanding the histopathology and TNM staging of thyroid carcinomas is crucial for the selection of appropriate treatment modalities, predicting patient prognosis and clinical outcomes.
:甲状腺癌在全世界呈显著上升趋势,2020年报告的新增病例为586万例,死亡人数为43664人。在这项研究中,我们重点对所有组织学类型的甲状腺恶性肿瘤的发病率和人口统计学特征进行了详细分析。研究对象:2016年1月至2020年12月期间在南印度一家三级医疗中心病理科报告的所有甲状腺癌病例。人口统计学特征和患者详细信息均来自病历科。检索了纳入病例的病理报告,并分析了相关因素。 研究结果:在纳入研究的 98 例病例中,16 例(16.3%)年龄在 30 岁以下,44 例(44.9%)年龄在 30-50 岁之间,38 例(38.8%)年龄在 50 岁以上。平均年龄为 45.78 岁。女性占多数,66 例(67.3%)为女性,32 例(32.65%)为男性。组织病理学结果显示,90 例(91.8%)为乳头状癌,1 例(1.02%)为髓样癌,1 例(1.02%)为岛状癌,5 例(5.102%)为滤泡状癌,1 例(1.02%)为无细胞癌。根据 TNM 分类,大部分病例被归类为 T1 肿瘤(45.91%)。24例(24.49%)被分级为N1(转移至区域结节)。3例(3.06%)出现远处转移。大多数病例(71.42%)的样本来自甲状腺全切除术。 人口统计学研究:我们注意到,甲状腺癌的发病高峰期在人的第四个十年,女性居多。大多数病例的组织学类型为乳头状癌。了解甲状腺癌的组织病理学和TNM分期对于选择适当的治疗方式、预测患者预后和临床效果至关重要。
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引用次数: 0
A rare case of pineoblastoma – Case report 松果体母细胞瘤罕见病例 - 病例报告
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.041
Preeti Jhaveri, Shivani Kanjibhai Patel, Minesh B Gandhi, Cherry K Shah
Pineoblastoma is a very rare and aggressive malignant tumor of pineal gland. We report a case of 12-year-old male patient presented to S.V.P. tertiary care hospital with complain of progressive loss of vision in both eyes with nausea and headache. On examination bilateral upward gaze palsy was present. The magnetic resonance imaging report revealed possibility of pineal Germinoma. The patient underwent ventriculoperitoneal shunt insertion surgery for obstructive hydrocephalus and suboccipital craniectomy for tumor resection. The Histopathological examination report stated the tumor as Pineoblastoma, Grade IV. Immunohistochemistry studies were positive for synaptophysin and Integrase interactor-1 (INI-1) markers with high ki-67 labelling index and negative for CD-117 and Glial fibrillary acid protein (GFAP) markers. Microscopic and Immuno histochemisty findings are important to differentiate pineoblastoma from other pineal region tumors.
松果体母细胞瘤是一种非常罕见的侵袭性松果体恶性肿瘤。我们报告了一例 12 岁男性患者的病例,患者因双眼视力逐渐下降、恶心和头痛到 S.V.P. 三级医院就诊。检查时发现双侧向上凝视麻痹。磁共振成像报告显示可能患有松果体胚芽肿。患者因梗阻性脑积水接受了脑室腹腔分流术,并因肿瘤切除接受了枕骨下颅骨切除术。组织病理检查报告显示肿瘤为松果体母细胞瘤,IV 级。免疫组化研究显示,突触素和整合酶互作因子-1(INI-1)标记物阳性,ki-67标记指数较高,CD-117和胶质纤维酸蛋白(GFAP)标记物阴性。显微镜和免疫组织化学检查结果对于区分松果体母细胞瘤和其他松果体区域肿瘤非常重要。
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引用次数: 0
A primary leiomyosarcoma of small intestine: A rare case report 小肠原发性亮肌肉瘤:罕见病例报告
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.042
Gayatri Ajay Bamaniya, Krishna Kanubhai Patel, Cherry K Shah
Primary leiomyosarcoma of small intestine originating from smooth muscle cell is extremely rare entity. It mimics gastrointestinal stromal tumor (GIST) because of their common morphological appearance. Microscopic and immunochemistry findings are necessary to differentiate Leiomyosarcoma from gastrointestinal tumor (GIST). We report a case of 58-year-old male patient presented to tertiary care hospital with complain of generalized abdominal pain, vomiting, early satiety and constipation. Physical examination revealed no significant findings. Imaging findings showed Ileo-Ileal intussusceptions. Neither CT scan nor MRI reveal any evidence of tumor. The patient underwent exploratory laparotomy which revealed polypoidal mass in ileum. Resection and anastomosis of distal Ileum done & specimen received in histopathology department. On microscopic examination, Diagnosis of GIST & Leiomyosarcoma was considered. Immunohistochemistry was positive for Desmin marker and negative for CD 117, DOG 1, S-100 & ALK marker. The diagnosis of High grade Leiomyosarcoma was confirmed.
小肠原发性平滑肌肉瘤是一种极为罕见的肿瘤。它与胃肠道间质瘤(GIST)的形态外观相似。显微镜和免疫化学检查结果是鉴别雷米肉瘤和胃肠道肿瘤(GIST)的必要条件。我们报告了一例因全身腹痛、呕吐、早饱和便秘而到三级医院就诊的 58 岁男性患者。体格检查无明显发现。影像学检查结果显示为回肠-回肠肠套叠。CT 扫描和磁共振成像均未发现任何肿瘤迹象。患者接受了剖腹探查术,发现回肠内有息肉样肿块。对远端回肠进行了切除和吻合,组织病理科收到了标本。经显微镜检查,考虑诊断为 GIST 和 Leiomyosarcoma。免疫组化结果显示 Desmin 标记阳性,CD 117、DOG 1、S-100 和 ALK 标记阴性。确诊为高级别横纹肌肉瘤。
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引用次数: 0
RBC histogram: Useful diagnostic tool in evaluating anaemia 红细胞直方图评估贫血的有用诊断工具
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.028
Vineet Banga, Aarushi Soota
: Anaemia is a widespread public health problem, more common in developing countries. Red blood cell histogram is a vital part for evaluation and diagnosis of anaemia. Histogram can be a useful modality for arriving at the probable diagnosis of anaemia reporting in short span of time.: To observe various RBC Histogram on haematology Analyser in anaemia and analyse the usefulness of RBC Histogram to correlate with peripheral smear.: A prospective study was done in Department of Pathology of Secondary Care hospital from January 2024 to March 2024 on 300 anaemia patients. RBC Histogram were observed, analysed and correlated with peripheral smear. Out of total 300 patients, Most common anaemia is Microcytic Hypochromic (60%), Normocytic normochromic (21.33%), Dimorphic anaemia (12.33%) and macrocytic anaemia (6%). 95.5% microcytic hypochromic anaemia showed left shifted curve, 84.3% Normocytic normochromic anaemia showed normal curve, 88% macrocytic anaemia showed right shift curve. Considering the speed, reliability and less inter observer variation of the modern haematological analysers RBC histogram are important diagnostic tool for various types of anaemia and provide accurate morphological typing of anaemia in most cases hence presumptive report can be released based on RBC histogram.
:贫血是一个普遍的公共卫生问题,在发展中国家更为常见。红细胞直方图是评估和诊断贫血的重要部分。红细胞组织图是在短时间内得出贫血可能诊断报告的有用方法。 目的:观察血液分析仪上贫血患者的各种红细胞组织图,并分析红细胞组织图与外周涂片相关性的有用性:一项前瞻性研究于 2024 年 1 月至 2024 年 3 月在二级医院病理科对 300 名贫血患者进行了研究。研究人员观察、分析了红细胞组织图,并将其与外周涂片相关联。在全部 300 名患者中,最常见的贫血症是小红细胞低色素性贫血(60%)、正常红细胞正常色素性贫血(21.33%)、二形性贫血(12.33%)和大红细胞性贫血(6%)。95.5% 的小红细胞低色素性贫血显示左移曲线,84.3% 的正常红细胞正常色素性贫血显示正常曲线,88% 的大红细胞性贫血显示右移曲线。考虑到现代血液分析仪的速度、可靠性和观察者之间的差异较小,红细胞直方图是诊断各种类型贫血的重要工具,在大多数情况下可提供准确的贫血形态学分型,因此可根据红细胞直方图发布推定报告。
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引用次数: 0
Myxopapillary ependymoma of the spinal cord: A case with literature review 脊髓的肌乳头状上皮瘤:一例病例及文献综述
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.027
L. Sarkar, S. Jagtap, Shubham S Jagtap, D. Dodia
Myxopapillary ependymoma is a rare spinal cord tumors. The intramedullary myxopapillary ependymomas are. Herewith case of a 41-year-old male complaint of a nonspecific low back pain, progressive inability to bend, right lower limb pain with numbness of six month duration. On clinical evaluation right lower limb weakness was noted while the sensations were normal. There was no any significant past history. MRI lumbo-sacral spine with whole spine screening was performed. It showed lobulated heterogenous intensity enhancing intra medullary mass lesion in thecal sac extending from L4-L5 to S1-S2 level. It measured about 52 x 28 x 21 mm. MRI features suggestive of neoplasm – ependymoma was made. The gross total surgical resection was performed. On histopathological findings reported as myxopapillary ependymoma grade 2. The tumor on immunohistochemistry showed positive for EMA, GFAP. While negative for CMYC. The Ki-67 proliferation index (MIB1) was 3%. On follow up there was no tumor recurrence. Rehabilitation therapy was initiated and follow up is advised.
肌乳头状上皮瘤是一种罕见的脊髓肿瘤。髓内肌乳头状上皮瘤是一种罕见的脊髓肿瘤。本病例是一名 41 岁的男性,主诉非特异性腰背痛、进行性无法弯腰、右下肢疼痛伴麻木,病程 6 个月。临床评估发现,患者右下肢无力,但感觉正常。既往无任何重要病史。患者接受了全脊柱筛查,并接受了骶骨磁共振成像检查。结果显示,髓囊内的分叶状异质强化肿块病变从L4-L5延伸至S1-S2水平。肿块大小约为 52 x 28 x 21 毫米。磁共振成像特征提示为肿瘤--上皮瘤。手术对其进行了全切。组织病理结果报告为肌乳头状上皮瘤 2 级。肿瘤的免疫组化显示 EMA 和 GFAP 阳性,而 CMYC 阴性。CMYC阴性。Ki-67增殖指数(MIB1)为3%。经随访,肿瘤没有复发。已开始康复治疗,建议进行随访。
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引用次数: 0
A case report on Kimura’s disease 木村氏病病例报告
Pub Date : 2024-07-15 DOI: 10.18231/j.ijpo.2024.046
Hinal K Gajjar, Monali Dineshbhai Makasana, Preeti Jhaveri
Kimura’s disease (KD) is a benign rare chronic inflammatory condition. It usually presents as a mass lesion in the subcutaneous tissue of the head and neck region or in the major salivary glands, often associated with regional lymphadenopathy. Kimura’s disease seen in an endemic form in Asia but also in other parts of the world, including the United States and Europe. This condition is characterised by painless nodules beneath skin, elevated levels of eosinophils in the blood as well as in tissue with increased level of IgE. We report a case of Kimura’s disease in 26-year-old man who presented with swelling in postauricular area.
木村氏病(KD)是一种罕见的良性慢性炎症。它通常表现为头颈部皮下组织或主要唾液腺的肿块病变,常伴有区域性淋巴结肿大。木村氏病在亚洲呈地方性流行,但也见于世界其他地区,包括美国和欧洲。这种疾病的特点是皮肤下出现无痛性结节,血液和组织中的嗜酸性粒细胞水平升高,IgE 水平升高。我们报告了一例 26 岁男子的木村氏病病例,他的症状是耳后部位肿胀。
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引用次数: 0
期刊
Indian Journal of Pathology and Oncology
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