Characteristic of 8p11 Myeloproliferative Syndrome with Rare Phenotype

• Published in: Zhongguo shi yan xue ye xue za zhi Vol. 29; no. 1; p. 181
• Main Authors: Xue, Song, Xu, Huan-Xia, Zhang, Yong-Ping, Liu, Fu-Hong, Lu, Yi-Yan, Li, Fang, Wang, Yan-Ping, Wang, Cheng-Cheng, Jia, Xiao-Peng, Wang, Jing-Bo
• Format: Journal Article
• Language: Chinese
• Published: China 01.02.2021
• Subjects: Bone Marrow; Chromosomes, Human, Pair 8; Formins; Hematologic Neoplasms; Humans; Myeloproliferative Disorders - genetics; Phenotype; Receptor, Fibroblast Growth Factor, Type 1 - genetics; Translocation, Genetic
• ISSN: 1009-2137
• DOI: 10.19746/j.cnki.issn.1009-2137.2021.01.028

To deeply understand the clinical manifestation, laboratory examination characteristics, diagnosis and treatment of an eight p11 myeloproliferative syndrome (EMS) with rare phenotypes. The clinical and laboratory characteristics and the process of allogeneic hematopoietic stem cell transplantation (allo-HSCT) were summarized in 1 rare EMS case involving T/B/myeloid cells. Meanwhile, 2 similar cases in the previous literature were also discussed. The bone marrow examination indicated that the patient with B-cell acute lymphocytic leukemia. The lymph node biopsy showed that the patient was T lymphoblastic/myeloid lymphoma. The 8p11 abnormality was found by the examination of bone marrow chromosomes. The RT-PCR examination showed that the BCR-ABL fused gene was negtive. The FGFR1 breakage was found by using the FISH with FGFR1 probe in lymph node. The Mutation of FMNL3, NBPF1 and RUNX1 genes was found by using the whole exome sequencing. The patient received allo-HSCT under CR2. By the follow-up till to Septembe