Zhang Y, Schlegelberger B, Weber-Matthiesen K, Grote W, Bartels H
Department of Human Genetics, Kiel University, Germany.
Cancer Genet Cytogenet. 1994 Dec;78(2):236-8. doi: 10.1016/0165-4608(94)90096-5.
Mastocytosis is a rare disease which occasionally progresses into mast cell leukemia or other myeloid neoplasms. Here we report on a patient with systemic mastocytosis who was found to have a clone with t(X;8)(q2?6;q21.3) and two copies of der(8)t(X;8). In accordance with these results, interphase cytogenetic analysis revealed that 93% of bone marrow cells contained three centromeric regions of chromosome 8. We suggest that the t(X;8) and the duplication of the translocation chromosome 8 may play a role in the progression of the diseases.
肥大细胞增多症是一种罕见疾病，偶尔会进展为肥大细胞白血病或其他髓系肿瘤。在此，我们报告一例系统性肥大细胞增多症患者，该患者被发现存在一个具有t(X;8)(q2?6;q21.3)的克隆以及两条der(8)t(X;8)拷贝。根据这些结果，间期细胞遗传学分析显示93%的骨髓细胞含有三条8号染色体的着丝粒区域。我们认为t(X;8)以及易位染色体8的重复可能在疾病进展中起作用。
