Welborn Jeanna, Jenks Helen, Taplett Janet, Walling Paula
University of California at Davis Medical Center, Cancer Center, 4501 X Street, Sacramento, CA 95817, USA.
Cancer Genet Cytogenet. 2004 Jan 15;148(2):91-103. doi: 10.1016/s0165-4608(03)00240-1.
Rearrangements of the short arm of chromosome 12 are among the most common aberrations found in hematologic malignancies, including myelodysplastic syndromes, acute myelocytic leukemias, acute lymphoblastic leukemias, and non-Hodgkin lymphomas. We report on a group of 46 patients with a variety of myelocytic and lymphoid malignancies, all with an inversion of chromosome 12. Both pericentric and paracentric inversions occurred. The identified hotspots for breakage were p13 and q24. These correspond to gene-rich areas of known chromosome instability. The inv(12) is difficult to detect and may be misinterpreted as a partial deletion by routine cytogenetics. Fluorescence in situ hybridization studies revised the G-banding interpretations of a deleted 12p in some cases to an inversion. The inv(12) may occur as the sole abnormality in both myelocytic and lymphoid malignancies, suggesting lineage promiscuity as seen with MLL and ETV6 gene disruptions. The majority of patients with the inv(12) had complex karyotypic changes that predicted a poor prognosis. Of the 24 patients with known clinical follow-up, many were refractory to chemotherapy and overall survival was short.
12号染色体短臂重排在血液系统恶性肿瘤中是最常见的畸变之一，这些肿瘤包括骨髓增生异常综合征、急性髓细胞白血病、急性淋巴细胞白血病和非霍奇金淋巴瘤。我们报告了一组46例患有各种髓细胞性和淋巴细胞性恶性肿瘤的患者，所有患者均存在12号染色体倒位。着丝粒周围和近着丝粒倒位均有发生。确定的断裂热点为p13和q24。这些对应于已知染色体不稳定的基因丰富区域。inv(12)很难检测到，常规细胞遗传学可能会将其误判为部分缺失。荧光原位杂交研究在某些情况下将缺失12p的G带核型解释修正为倒位。inv(12)可能作为髓细胞性和淋巴细胞性恶性肿瘤中的唯一异常出现，这表明其与MLL和ETV6基因破坏所见的谱系混杂情况相同。大多数inv(12)患者具有复杂的核型变化，预示着预后不良。在24例有已知临床随访结果的患者中，许多人对化疗耐药，总体生存期较短。
