JAK2 V617F原发性骨髓纤维化和SH2B3/LNK种系变异患者异基因造血细胞移植的供体选择。

IF 3 3区医学 Q2 HEMATOLOGY

Annals of Hematology Pub Date : 2024-12-14 DOI:10.1007/s00277-024-06140-w

Giorgia Ranucci, Camilla Page, Enrica Marchionni, Chiara Minotti, Giorgia Silvestrini, Susanna Gastaldi, Giada Pacitto, Laura Cicconi, Annalisa Biagi, Valentina Ferradini, Enrico Attardi, Giuseppe Novelli, Federica Sangiuolo, Maria Teresa Voso, Carmelo Gurnari

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引用次数: 0

摘要

最近，种系变异也被发现是骨髓增生性肿瘤（MPN）病因学的贡献者。考虑这些遗传特征对患者的临床管理至关重要，特别是在同种异体造血细胞移植（alloo - hct）的适应症和供体选择方面。在此，我们描述了一个非常有指导意义的病例，一名49岁的女性被诊断为JAK2 v617f阳性的原发性骨髓纤维化（PMF），她被发现也携带SH2B3基因的种系变异，详细介绍了临床管理，同种hct目的的供体选择过程，以及适当的遗传咨询。

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Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.

Recently, germline variants have also been found as contributors of disease etiology in myeloproliferative neoplasms (MPN). The consideration of such inherited traits is crucial for clinical management of patients, particularly with regards to indication for allogeneic hematopoietic cell transplant (allo-HCT) and donor selections. Herein, we describe the very instructive case of a 49-year-old woman diagnosed with JAK2 V617F-positive primary myelofibrosis (PMF) who was found to also carry a germline variant in the SH2B3 gene, detailing clinical management, donor selection process for allo-HCT purposes, and appropriate genetic counseling.

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来源期刊

Annals of Hematology 医学-血液学

CiteScore

5.60

自引率

2.90%

发文量

304

审稿时长

2 months

期刊介绍： Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.