Characteristic of 8p11 Myeloproliferative Syndrome with Rare Phenotype.
10.19746/j.cnki.issn.1009-2137.2021.01.028
- Author:
Song XUE
1
;
Huan-Xia XU
1
;
Yong-Ping ZHANG
1
;
Fu-Hong LIU
1
;
Yi-Yan LU
2
;
Fang LI
1
;
Yan-Ping WANG
1
;
Cheng-Cheng WANG
3
;
Xiao-Peng JIA
4
;
Jing-Bo WANG
5
Author Information
1. Department of Hematology,Aerospace Center Hospital, Beijing 100049, China.
2. Department of Pathology,Aerospace Center Hospital, Beijing 100049, China.
3. Acornmed Biotechnology, Co,Ltd. Beijing 100176, China.
4. Department of Medical Laboratory, Beijing Boren Hospital, Beijing 100070, China.
5. Department of Hematology,Aerospace Center Hospital, Beijing 100049, China,E-mail: wangjingbo@asch.net.cn.
- Publication Type:Journal Article
- MeSH:
Bone Marrow;
Chromosomes, Human, Pair 8;
Formins;
Hematologic Neoplasms;
Humans;
Myeloproliferative Disorders/genetics*;
Phenotype;
Receptor, Fibroblast Growth Factor, Type 1/genetics*;
Translocation, Genetic
- From:
Journal of Experimental Hematology
2021;29(1):181-187
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To deeply understand the clinical manifestation, laboratory examination characteristics, diagnosis and treatment of an eight p11 myeloproliferative syndrome (EMS) with rare phenotypes.
METHODS: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.
RESULTS: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 September 2019, the patient survived without the above-mentioned disease.
CONCLUSION:EMS manifest as neoplasms involving T-lineage, B-lineage, and myeloid-lineage simultaneously is extremely rare. Although the FGFR1 gene-targeted therapy can be conducted, allo-HSCT should be actively considered.
