Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway;
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Cancer Genomics Proteomics. 2022 Jul-Aug;19(4):445-455. doi: 10.21873/cgp.20331.
BACKGROUND/AIM: Recently, we reported a myoid hamartoma carrying a t(5;12)(p13;q14) karyotypic aberration leading to fusion of the high-mobility group AT-hook 2 (HMGA2) gene with a sequence from chromosome sub-band 5p13.2. We describe here another benign myoid tumor of the breast with identical genetic aberrations.
A mammary leiomyomatous tumor found in a 45-year-old woman was studied using cytogenetics, fluorescence in situ hybridization, RNA sequencing, reverse transcription-polymerase chain reaction and Sanger sequencing.
The karyotype of the tumor cells was 46,XX,t(5;12) (p13;q14)[14]. Fluorescence in situ hybridization showed rearrangement of HMGA2, RNA sequencing detected fusion of HMGA2 with a sequence from 5p13.2, whereupon reverse transcription-polymerase chain reaction together with Sanger sequencing verified the HMGA2-fusion transcript. The results were identical to those obtained by us previously in a myoid hamartoma of the breast.
The translocation t(5;12)(p13;q14) and fusion of HMGA2 with sequences from sub-band 5p13.2 appear to be recurrent events in benign mammary myoid neoplasms.
背景/目的：最近，我们报道了一例具有 t(5;12)(p13;q14) 核型异常的肌源性错构瘤，导致高迁移率族 AT 钩 2（HMGA2）基因与染色体亚带 5p13.2 上的序列融合。我们在此描述了另一种具有相同遗传异常的良性乳腺肌源性肿瘤。
研究了一名 45 岁女性的乳腺平滑肌瘤性肿瘤，使用细胞遗传学、荧光原位杂交、RNA 测序、逆转录聚合酶链反应和 Sanger 测序进行研究。
肿瘤细胞的核型为 46,XX,t(5;12)(p13;q14)[14]。荧光原位杂交显示 HMGA2 重排，RNA 测序检测到 HMGA2 与 5p13.2 上的序列融合，随后逆转录聚合酶链反应和 Sanger 测序证实了 HMGA2 融合转录本。结果与我们之前在乳腺肌源性错构瘤中获得的结果完全一致。
t(5;12)(p13;q14)易位和 HMGA2 与 5p13.2 亚带序列的融合似乎是良性乳腺肌源性肿瘤中的反复事件。
