Nilbert M, Mandahl N, Aman P, Rydholm A, Mitelman F
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Cancer Genet Cytogenet. 1994 Feb;72(2):155-6. doi: 10.1016/0165-4608(94)90133-3.
The human transcription factor gene, CHOP, which maps to 12q13, was recently shown to be disrupted by the t(12;16)(q13;p11) in myxoid liposarcoma. The most common soft tissue sarcoma, malignant fibrous histiocytoma (MFH) histopathologically may contain liposarcoma like areas and is often characterized by complex chromosome anomalies, which may include 12q13-15 aberrations, but never as t(12;16). By Southern blot technique, we detected no rearrangements of the CHOP gene in 41 MFH, including five with liposarcoma like areas. Thus, rearrangements of the CHOP gene appear to be specific for myxoid liposarcoma with t(12;16) and are not associated with lipoblastic differentiation.
人类转录因子基因CHOP定位于12q13，最近研究表明，在黏液样脂肪肉瘤中，该基因会因t(12;16)(q13;p11)而受到破坏。最常见的软组织肉瘤——恶性纤维组织细胞瘤（MFH），在组织病理学上可能包含脂肪肉瘤样区域，且常以复杂的染色体异常为特征，其中可能包括12q13 - 15畸变，但从未出现过t(12;16)。通过Southern印迹技术，我们在41例MFH中未检测到CHOP基因重排，其中包括5例具有脂肪肉瘤样区域的病例。因此，CHOP基因重排似乎是t(12;16)黏液样脂肪肉瘤所特有的，与脂肪母细胞分化无关。
