Kiyani Amber, Heerema Nyla A, Mayerson Joel L, Scharschmidt Thomas J, Iwenofu Obiajulu H
*Department of Oral and Maxillofacial Surgery, Anesthesiology and Oral Pathology, College of Dentistry Departments of †Pathology and Laboratory Medicine ‡Orthopaedics, Wexner Medical Center, The Ohio State University, Columbus, OH.
Appl Immunohistochem Mol Morphol. 2015 Aug;23(7):538-40. doi: 10.1097/PAI.0b013e31829804f7.
Myxoid liposarcomas are malignant lipomatous tumors with a predilection for young adults. They are characterized by the presence of reciprocal translocation between the CHOP (DDIT3) gene on chromosome 12 and the FUS gene on chromosome 16, t(12;16)(q13;p11.2) in >95% of cases, or less commonly, a translocation between the DDIT3 and EWSR1 genes, t(12;22)(q13;q12). Secondary aberrations involving trisomy 8 and chromosomes 1 and 16 have been reported. Herein, we report for the first time a novel secondary clonal translocation, t(2;4) (q23;p14) in addition to t(12;16)(q13; p11.2) in a 30-year-old woman with myxoid liposarcoma on the left posterior thigh region without any prior chemoradiation therapy. The significance of this translocation remains to be established.
黏液样脂肪肉瘤是一种好发于年轻人的恶性脂肪性肿瘤。其特征是在超过95%的病例中，12号染色体上的CHOP（DDIT3）基因与16号染色体上的FUS基因之间存在相互易位，即t(12;16)(q13;p11.2)，或较少见的情况下，DDIT3与EWSR1基因之间的易位，即t(12;22)(q13;q12)。已报道存在涉及8号染色体三体以及1号和16号染色体的继发性畸变。在此，我们首次报告了一名30岁左大腿后侧黏液样脂肪肉瘤女性患者，除了存在t(12;16)(q13; p11.2)外，还出现了一种新的继发性克隆性易位t(2;4) (q23;p14)，且该患者未曾接受过任何放化疗。这种易位的意义尚待确定。
