Solé F, Bosch F, Woessner S, Pérez-Losada A, Cervantes F, Montserrat E, Florensa L, Rozman C
Laboratori de Citologia Hematològica, Hospital Central L'Aliança, Barcelona, Spain.
Cancer Genet Cytogenet. 1994 Oct 15;77(2):111-3. doi: 10.1016/0165-4608(94)90224-0.
Isochromosome(12p), a cytogenetic abnormality characteristic of germ-cell tumors, is exceedingly rare in hematologic disorders. The cytogenetic analysis of a patient diagnosed as refractory anemia with excess of blasts with an associated i(12p), who previously had a teratocarcinoma of the mediastinum, is presented. The cytogenetic analysis was performed at diagnosis of the hematologic malignancy, with all 30 metaphases in the bone marrow culture showing a 47,X, -Y, +8, +i(12)(p10) karyotype. The cytogenetic findings in this patient are compared with those published concerning the association of mediastinal germ-cell tumors and malignant hematologic disorders.
等臂染色体(12p)是生殖细胞肿瘤的一种细胞遗传学异常特征,在血液系统疾病中极为罕见。本文报告了一例诊断为难治性贫血伴原始细胞增多且伴有i(12p)的患者的细胞遗传学分析,该患者曾患有纵隔畸胎癌。细胞遗传学分析在血液系统恶性肿瘤诊断时进行,骨髓培养的所有30个中期细胞均显示47,X, -Y, +8, +i(12)(p10)核型。将该患者的细胞遗传学结果与已发表的关于纵隔生殖细胞肿瘤与恶性血液系统疾病关联的结果进行了比较。