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19号染色体三体作为血液系统肿瘤中唯一的染色体异常。

Trisomy 19 as the sole chromosomal anomaly in hematologic neoplasms.

作者信息

Johansson B, Billström R, Mauritzson N, Mitelman F

机构信息

Department of Clinical Genetics, University Hospital, Lund, Sweden.

出版信息

Cancer Genet Cytogenet. 1994 May;74(1):62-5. doi: 10.1016/0165-4608(94)90031-0.

DOI:10.1016/0165-4608(94)90031-0
PMID:8194050
Abstract

Trisomy 19 was found as the sole chromosomal aberration in three hematologic malignancies: one chronic myelomonocytic leukemia and two cases of of immunophenotypically immature acute myeloid leukemia (AML). A compilation of previously published hematologic neoplasms with +19 as the only change reveals that this anomaly is strongly associated with myeloid malignancies; 25 of 31 cases have been myelodysplastic syndromes (MDS) or AML. Eight of the 11 MDS cases have been either refractory anemia (RA) or RA with excess of blasts, and four of the 14 AML cases have had preleukemic myelodysplastic cases phase, with the +19 accruing during the time of leukemic transformation. The AML cases have, in general, been either or early maturation arrest, i.e. undifferentiated or AML-M1/M2, or of myelomonocytic-monoblastic origin, i.e., AML-M4/M5. None of the MDS or AML cases with +19 had had a previous history of radio- or chemotherapy. We conclude that trisomy 19, as the sole anomaly, is a characteristic abnormality in de novo myeloid malignancies. No clinical features seem to characterize patients with +19 AML and MDS and the prognostic impact of the aberration remains to be elucidated.

摘要

在三种血液系统恶性肿瘤中发现19号染色体三体是唯一的染色体畸变:1例慢性粒单核细胞白血病和2例免疫表型不成熟的急性髓系白血病(AML)。对先前发表的以+19作为唯一改变的血液系统肿瘤进行汇总分析发现,这种异常与髓系恶性肿瘤密切相关;31例中有25例为骨髓增生异常综合征(MDS)或AML。11例MDS病例中有8例为难治性贫血(RA)或伴有原始细胞增多的RA,14例AML病例中有4例有白血病前期骨髓增生异常阶段,+19在白血病转化时出现。AML病例总体上要么是早期成熟停滞,即未分化型或AML-M1/M2,要么是粒单核-单核母细胞起源,即AML-M4/M5。所有伴有+19的MDS或AML病例既往均无放疗或化疗史。我们得出结论,19号染色体三体作为唯一的异常,是原发性髓系恶性肿瘤的特征性异常。似乎没有临床特征能区分伴有+19的AML和MDS患者,这种畸变对预后的影响仍有待阐明。

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