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伴有急性髓系白血病/骨髓增生异常综合征相关t(1;3)(p36;q21)的华氏巨球蛋白血症

Waldenström's macroglobulinemia with the AML/MDS-associated t(1;3)(p36;q21).

作者信息

Johansson B, Waldenström J, Hasselblom S, Mitelman F

机构信息

Department of Clinical Genetics, Lund University Hospital, Sweden.

出版信息

Leukemia. 1995 Jul;9(7):1136-8.

PMID:7630185
Abstract

Two unusual, and perhaps causally related, clinical and cytogenetic features in a patient with Waldenström's macroglobulinemia are presented. Firstly, during the progression of the primary macroglobulinemia bone destruction and hypercalcemia occurred. Secondly, a t(1;3)(p36;q21) was found as the sole clonal chromosomal abnormality. This translocation is characteristic of acute myeloid leukemia (AML) and myelodysplastic syndromes with a high propensity for progressing to AML. The t(1;3) has previously never been reported in a lymphoproliferative disorder. Since the abnormality is associated with acute transformation of cells of the myelopoietic lineages, it is possible that the t(1;3), found in cells of lymphoid origin in the present case, not only induced the neoplastic process as such but also brought about the unusually malignant tumor progression.

摘要

本文报告了1例华氏巨球蛋白血症患者出现的两个不寻常的、可能存在因果关系的临床和细胞遗传学特征。首先,在原发性巨球蛋白血症进展过程中发生了骨质破坏和高钙血症。其次,发现t(1;3)(p36;q21)是唯一的克隆性染色体异常。这种易位是急性髓系白血病(AML)和骨髓增生异常综合征的特征,后者极易进展为AML。t(1;3)此前从未在淋巴增殖性疾病中报道过。由于该异常与骨髓系细胞的急性转化相关,因此在本例起源于淋巴样的细胞中发现的t(1;3),不仅可能引发了肿瘤形成过程本身,还导致了异常恶性的肿瘤进展。

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