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

• Published in: Diagnostic pathology 2023-03, Vol.18 (1), p.35-35, Article 35
• Main Authors: Li, Xiang, Zhang, Hongxia, Cui, Yong, Zhang, Haijun, Wang, Yonggang, Ding, Meili, Zhu, Xingyao, Zhang, Ruiqi, Hu, Qi, Tao, Lin, Hu, Wenhao, Li, Xinxia, Ao, Qilin, Zou, Hong
• Format: Article
• Language: English
• Subjects: Abnormalities; Adenocarcinoma; Biopsy; Bone marrow; Cancer; Case reports; CD19 antigen; CD34 antigen; CD4 antigen; CD43 antigen; CD44 antigen; CD56 antigen; Cell Differentiation; Cells; Chemotherapy; Diagnosis; Differentiation; Endoscopy; Ewings sarcoma; Exome Sequencing; Female; FLT3 gene; Gene mutations; Genes; Hematologic Neoplasms; Hematology; Hematopoietic stem cells; Humans; Immunohistochemistry; Immunophenotype; Leukemia; Lymphoma; Lysozyme; Melanoma; Melanoma, Cutaneous Malignant; Middle Aged; Missense mutation; Monocytes; Morphology; Muramidase; Mutation; Myeloid sarcoma with monocytic differentiation; Nuclear fission; Nucleoli; p53 Protein; Patients; Sarcoma; Sarcoma, Myeloid; Sequence analysis; Tomography; Tumor proteins; Tumorigenesis; Tumors
• ISSN: 1746-1596; 1746-1596
• DOI: 10.1186/s13000-023-01311-1

Myeloid 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. We 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. We 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.