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对于同时患有骨髓纤维化和慢性粒细胞白血病(CML)的患者,异基因移植是一种选择吗?

Is Allogeneic Transplantation an Option in Patients Affected by Concurrent Myelofibrosis and Chronic Myeloid Leukemia (CML)?

作者信息

Sora Federica, Chiusolo Patrizia, Autore Francesco, Giammarco Sabrina, Laurenti Luca, Innocenti Idanna, Metafuni Elisabetta, Galli Eugenio, Bacigalupo Andrea, Sica Simona

机构信息

Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.

Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche, Universita Cattolica del Sacro Cuore, Roma, Italy.

出版信息

Mediterr J Hematol Infect Dis. 2021 Nov 1;13(1):e2021062. doi: 10.4084/MJHID.2021.062. eCollection 2021.

Abstract

Classification of myeloproliferative neoplasms is based on hematologic, histopathologic, and molecular characteristics, including the BCR-ABL1 and JAK2 V617F or MPL and CALR. Although the different gene mutations ought to be mutually exclusive, several cases with co-occurring BCR-ABL1 and JAK2 V617F or CALR have been identified with a frequency of 0.2-2.5% in the European population. The tyrosine kinase abnormalities appeared to affect independent subclones because imatinib mesylate (IM) treatment induced Ph+-CML remission, whereas the JAK2V617F clone either persisted or clinically expanded after a major response of Ph+-clone. Allogeneic stem cell transplantation is at present the only potentially curative therapy for these patients after therapy with ruxolitinib and TKI inhibitor. We describe the case of 3 young people treated in our institution for the coexistence of BCR/ABL chronic myeloid leukemia and another Philadelphia chromosome-negative (Ph-) Chronic myeloproliferative disease. They received ruxolitinib, imatinib/nilotinib, and allogeneic transplantation with safe and efficient results.

摘要

骨髓增殖性肿瘤的分类基于血液学、组织病理学和分子特征,包括BCR-ABL1、JAK2 V617F或MPL及CALR。尽管不同的基因突变应该相互排斥,但在欧洲人群中已发现有0.2%-2.5%的病例同时存在BCR-ABL1和JAK2 V617F或CALR。酪氨酸激酶异常似乎影响独立的亚克隆,因为甲磺酸伊马替尼(IM)治疗可诱导Ph+慢性粒细胞白血病缓解,而在Ph+克隆出现主要反应后,JAK2V617F克隆要么持续存在,要么在临床上扩大。目前,异基因干细胞移植是这些患者在接受鲁索替尼和TKI抑制剂治疗后唯一可能治愈的疗法。我们描述了在我们机构接受治疗的3名年轻人的病例,他们同时患有BCR/ABL慢性髓性白血病和另一种费城染色体阴性(Ph-)慢性骨髓增殖性疾病。他们接受了鲁索替尼、伊马替尼/尼罗替尼以及异基因移植,结果安全有效。

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