急性早幼粒细胞白血病中同源染色体 der(17)(q10)t(15;17) 的生物学和临床特征。

IF 1.7 4区医学 Q3 HEMATOLOGY Acta Haematologica Pub Date : 2025-01-01 Epub Date: 2024-05-31 DOI:10.1159/000539159

Yuchen Liu, Yi Ning, Gabriel Ghiaur, Ashkan Emadi

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引用次数: 0

摘要

导言：急性早幼粒细胞白血病（APL）的遗传学特征是由t(15;17)(q24;q21)染色体易位导致的早幼粒细胞白血病基因（PML）与视黄酸受体α（RARα）融合。在 APL 中，一个不常见但经常出现的现象是形成了 17 号染色体的同源染色体，即 ider(17)(q10)t(15;17)或 ider(17q)。APL 中的这种重排导致 PML-RARα 融合基因的额外拷贝以及 17p/TP53 的缺失。由于ider(17q)不常出现，这一基因发现对预后的影响尚不清楚。病例介绍：在此，我们描述了在马里兰大学和约翰霍普金斯大学接受治疗的 5 例 ider(17q) APL 患者的临床特征和预后：在我们的系列研究中，ider(17q) APL 患者的预后并不差。

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Biologic and Clinical Characteristics of Isochromosome der(17)(q10)t(15;17) in Acute Promyelocytic Leukemia.

Introduction: Acute promyelocytic leukemia (APL) is genetically characterized by the fusion of promyelocytic leukemia (PML) gene with retinoic acid receptor alpha (RARα) resulting from a t(15;17)(q24;q21) chromosomal translocation. An infrequent but recurrent finding in APL is the formation of an isochromosome of the derivative chromosome 17; ider(17)(q10)t(15;17) or ider(17q). This rearrangement in APL results in an additional copy of the PML-RARα fusion gene as well as loss of 17p/TP53. Due to the infrequent occurrence of the ider(17q), the prognostic impact of this genetic finding is not well known. Case Presentation(s): Here, we describe the clinical characteristics and outcomes of our case series of 5 patients with ider(17q) APL treated at the University of Maryland and Johns Hopkins University.

Conclusion: In our series, patients with APL with ider(17q) did not have a worse prognosis.

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来源期刊

Acta Haematologica 医学-血液学

CiteScore

4.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： ''Acta Haematologica'' is a well-established and internationally recognized clinically-oriented journal featuring balanced, wide-ranging coverage of current hematology research. A wealth of information on such problems as anemia, leukemia, lymphoma, multiple myeloma, hereditary disorders, blood coagulation, growth factors, hematopoiesis and differentiation is contained in first-rate basic and clinical papers some of which are accompanied by editorial comments by eminent experts. These are supplemented by short state-of-the-art communications, reviews and correspondence as well as occasional special issues devoted to ‘hot topics’ in hematology. These will keep the practicing hematologist well informed of the new developments in the field.