SMARCA4-deficient anaplastic carcinoma arising in a primary retroperitoneal mucinous adenocarcinoma

Abstract Background:Anaplastic carcinoma mural nodules presenting in ovarian mucinous cystic tumors are very rare. Here, we reported clinicopathological, immunohistochemical and molecular features of 3 such cases, and reviewed the related literature.Case presentation:The expression of pan-cytokeratin (CK) in the mural nodules of all three patients supported the diagnosis of mural nodules of anaplastic carcinoma. Immunohistochemical staining showed wild-type expression of p53 in the mural nodules and mucinous epithelium of Cases 2 and 3, while Case 1 was negative for the p53 mutation. The synchronous expression of p53 in epithelia and mural nodules suggested that mural nodules might be homologous with mucinous adenocarcinoma and might be the result of dedifferentiation of mucinous adenocarcinoma. In the sarcomatoid region of Case 1, p53 was wild-type in spindle cells and multinucleated giant cells in the background. In Case 3, a broad-based serrated adenoma of the appendix was also found. Therefore, exons of tumor-related genes were detected by high-throughput next-generation sequencing (NGS). Missense mutations of PIK3CA and PTEN were found, but no germline mutations were detected.Conclusions:In young patients with sarcomalike mural nodule (SLMNs) morphology, pathological analysis is recommended to avoid overlooking the existence of malignant mural nodules. Serrated lesions occurred in the appendix and ovarian mucinous tumor simultaneously, but no germline mutations were detected by NGS, indicating this was a sporadic case.

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Ampulla of Vater Mucinous Adenocarcinoma

10.32388/4bzejx ◽

2020 ◽

Author(s):

Keyword(s):

Mucinous Adenocarcinoma ◽

Ampulla Of Vater

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Cervical Mucinous Adenocarcinoma

10.32388/6fncek ◽

2020 ◽

Author(s):

Keyword(s):

Mucinous Adenocarcinoma

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Metastatic Appendix Mucinous Adenocarcinoma

10.32388/jmd9du ◽

2020 ◽

Author(s):

Keyword(s):

Mucinous Adenocarcinoma

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TO STUDY THE ETIOPATHOLOGICAL SPECTRUM OF ADULT PATIENTS WITH PANCYTOPENIA

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v4i10.1461 ◽

2020 ◽

Vol 4 (10) ◽

Author(s):

Harimohan Garg ◽

Haritej Anand Khirawari ◽

Sona Priyadarshi

Keyword(s):

Acute Leukemia ◽

Aplastic Anemia ◽

Indian Subcontinent ◽

Megaloblastic Anemia ◽

Anaplastic Carcinoma ◽

Adult Patients ◽

Research Centre ◽

New Delhi ◽

Nutritional Anemia ◽

Male Preponderance

Background: Pancytopenia is diagnosed when there is a reduction in all three hematopoietic cell lines. Till date there is limited number of studies on the frequency of various causes of pancytopenia. Of these some have been reported from the Indian subcontinent. There appears to be a changing spectrum of pancytopenia over the past two decades. The objective was to study the etiopathological spectrum of adult patients with pancytopenia over a period of one and half year. Methods: The Prospective and retrospective observational study was conducted in the Department of Family Medicine, Batra Hospital and Medical Research Centre, New Delhi. A total of 120 Patients were included in the study. All patients gave their consent to take part in the study and were subjected to a questionnaire regarding symptoms, past relevant history, lifestyle and detailed clinical examination and investigations as mentioned in materials and methods. Results: Six broad diagnostic groups could be identified in adults with pancytopenia. Megaloblastic anemia (D1) was the largest group comprising 57.5% of all patients. 11.7% of patients with pancytopenia were diagnosed as Aplastic anemia (D2).11.7% of patients with pancytopenia were diagnosed as leukemia/lymphoma (D3) such as lymphoma (1), metastatic anaplastic carcinoma (1), acute leukemia (11), and metastatic gastric carcinoma (1). 15% of patients with pancytopenia were diagnosed with infections (D4) such as complicated malaria cases (7), HIV (5), disseminated tuberculosis (4), viral (2). We also encountered (D5) 0.8% was Myelophthisis/Storage disorder as myelodysplastic syndrome (1) and 3.3% were other (D6) as reactive marrow (4). Conclusion: Pancytopenia is not a disease itself. It is a hematological feature of varying etiology with slight male preponderance. Megaloblastic anemia along with mixed nutritional anemia is leading cause of pancytopenia in India followed by infections being second and aplastic anemia and acute leukemia being third common causes. Keyword: Pancytopenia, Megaloblastic anemia, Nutritional anemia.

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