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易位(3;8)(q26;q24):骨髓增生异常综合征和急性髓系白血病中一种反复出现的染色体异常。

Translocation (3;8)(q26;q24): a recurrent chromosomal abnormality in myelodysplastic syndrome and acute myeloid leukemia.

作者信息

Lin Pei, Medeiros L Jeffrey, Yin C Cameron, Abruzzo Lynne V

机构信息

Department of Hematopathology, M. D. Anderson Cancer Center, Box 72, The University of Texas, Houston, TX 77030, USA.

出版信息

Cancer Genet Cytogenet. 2006 Apr 1;166(1):82-5. doi: 10.1016/j.cancergencyto.2005.10.007.

DOI:10.1016/j.cancergencyto.2005.10.007
PMID:16616115
Abstract

We identified a reciprocal translocation between chromosomes 3 and 8, with breakpoints at bands 3q26 and 8q24, in five patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The t(3;8)(q26;q24) was the sole cytogenetic aberration in two patients, was associated with trisomy 13 in one patient, and occurred with monosomy 7 in two patients. In three patients, the AML or MDS developed 36, 52, and 57 months following chemotherapy for soft tissue sarcoma, mantle cell lymphoma, and diffuse large B-cell lymphoma, respectively; in these three patients, the neoplasms were considered to be therapy-related. All five patients displayed marked trilineage dysplasia and variable degrees of cytopenias, with marked thrombocytosis noted in one patient and a normal platelet count in another patient. All patients were treated with combination chemotherapy; at writing, four were still alive and one had died during a follow-up period ranging from 1 to 16 months. We conclude that the t(3;8)(q26;q24) is a recurrent translocation associated with therapy-related MDS/AML or de novo AML, and is frequently associated with monosomy 7.

摘要

我们在5例骨髓增生异常综合征(MDS)或急性髓系白血病(AML)患者中发现了3号和8号染色体之间的相互易位,断点位于3q26和8q24带。t(3;8)(q26;q24)在2例患者中是唯一的细胞遗传学异常,在1例患者中与13号染色体三体相关,在2例患者中与7号染色体单体并存。3例患者分别在接受软组织肉瘤、套细胞淋巴瘤和弥漫性大B细胞淋巴瘤化疗后36、52和57个月发生AML或MDS;在这3例患者中,肿瘤被认为与治疗相关。所有5例患者均表现出明显的三系发育异常和不同程度的血细胞减少,1例患者有明显的血小板增多,另1例患者血小板计数正常。所有患者均接受联合化疗;撰写本文时,4例仍存活,1例在1至16个月的随访期内死亡。我们得出结论,t(3;8)(q26;q24)是一种与治疗相关的MDS/AML或原发性AML相关的复发性易位,且常与7号染色体单体相关。

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