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Exome sequencing analysis of gastric primary myeloid sarcoma with monocytic differentiation with altered immunophenotype after chemotherapy: case report

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单位: [1]Department of Pathology, The First Afliated Hospital, Shihezi University School of Medicine, Xinjiang 832002, China [2]Department of Hematology, First Afliated Hospital, School of Medicine, Shihezi University, Shihezi City 832008, Xinjiang Uygur Autonomous Region, China [3]Department of Pathology, Shihezi City People’s Hospital, Xinjiang 832000, China [4]Department of Pathology, Afliated tumor Hospital of Xinjiang Medical University, Xinjiang 830000, China [5]Department of Pathology,School of Basic Medical Science,Institute of Pathology,Tongji Hospital.Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,Hubei,China [6]Department of Pathology, The Second Afliated Hospital of Zhejiang University School of Medicine, Zhejiang 310009, China
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关键词: Myeloid sarcoma with monocytic differentiation Immunophenotype Chemotherapy Exome sequencing

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BackgroundMyeloid Sarcoma with monocytic differentiation is rare and quite likely is missed by surgical pathologists. However it is frequently misdiagnosed because of its non-specific imaging and histological pattern.Case presentationWe report the case of a 64-year-old woman with gastric primary myeloid sarcoma with monocytic differentiatio. Upper endoscopy revealed a neoplastic growth at the junction of the lesser curvature and gastric antrum. Except for a slightly increased peripheral monocyte count, no abnormalities were found on hematological and bone-marrow examination. Gastroscopic biopsy showed poorly differentiated atypical large cells with visible nucleoli and nuclear fission. Immunohistochemistry showed positive CD34, CD4, CD43, and CD56 expression, and weakly positive lysozyme expression. Immune markers for poorly differentiated adenocarcinoma, malignant melanoma, and lymphohematopoietic-system tumors were negative. The final diagnosis was myeloid sarcoma with monocytic differentiation. Chemotherapy did not shrink the tumor, so, radical surgery was performed. Although the tumor morphology did not change postoperatively, the immunophenotype did. CD68 and lysozyme expression (tumor tissue markers) changed from negative and weakly positive to strongly positive, AE1/3 expression (epithelial marker) changed from negative to positive, and CD34, CD4, CD43, and CD56 expression (common in naive hematopoietic cell-derived tumors) was greatly attenuated. Exome sequencing revealed missense mutations in FLT3 and PTPRB, which are associated with myeloid sarcoma, and in TP53, CD44, CD19, LTK, NOTCH2, and CNTN2, which are associated with lymphohematopoietic tumors and poorly differentiated cancers.ConclusionWe diagnosed myeloid sarcoma with monocytic differentiation after excluding poorly differentiated adenocarcinoma, common lymphohematopoietic-system tumors, epithelioid sarcoma, and malignant melanoma. We identified that the immunophenotypic of patient had alterations after chemotherapy, and FLT3 gene mutations. We hope that the above results will improve our understanding of this rare tumor.

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出版当年[2022]版:
大类 | 4 区 医学
小类 | 3 区 病理学
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 病理学
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Q3 PATHOLOGY
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Q2 PATHOLOGY

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第一作者单位: [1]Department of Pathology, The First Afliated Hospital, Shihezi University School of Medicine, Xinjiang 832002, China
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