Reis-Filho J S, Natrajan R, Vatcheva R, Lambros M B K, Marchió C, Mahler-Araújo B, Paish C, Hodi Z, Eusebi V, Ellis I O
Molecular Pathology Laboratory, The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK.
Histopathology. 2008 Jun;52(7):840-6. doi: 10.1111/j.1365-2559.2008.03046.x. Epub 2008 May 6.
Acinic cell carcinomas (ACCs) and secretory carcinomas (SCs) of the breast are rare, low-grade malignancies that preferentially affect young female patients. Owing to the morphological and immunohistochemical similarities between these lesions, they have been proposed to be two morphological variants of the same entity. It has been demonstrated that SCs of the breast consistently harbour the t(12;15)ETV6-NTRK3 translocation. The aim was to determine whether ACCs also harbour ETV6 gene rearrangements and are thus variants of SCs.
Using the ETV6 fluorescence in situ hybridization DNA Probe Split Signal (Dako), the presence of ETV6 rearrangements in three SCs and six ACCs was investigated. Cases were considered as harbouring an ETV6 gene rearrangement if >10% of nuclei displayed 'split apart signals' (i.e. red and green signals were separated by a distance greater than the size of two hybridization signals). Whereas the three SCs displayed ETV6 split apart signals in >10% of the neoplastic cells, no ACC showed any definite evidence of ETV6 gene rearrangement.
Based on the lack of ETV6 rearrangements in ACCs, our results strongly support the concept that SCs and ACCs are distinct entities and should be recorded separately in breast cancer taxonomy schemes.
乳腺腺泡细胞癌(ACC)和分泌性癌(SC)是罕见的低级别恶性肿瘤,主要影响年轻女性患者。由于这些病变在形态学和免疫组织化学上存在相似性,有人提出它们是同一实体的两种形态学变体。已有研究表明,乳腺SC始终存在t(12;15) ETV6-NTRK3易位。本研究旨在确定ACC是否也存在ETV6基因重排,从而是否为SC的变体。
使用ETV6荧光原位杂交DNA探针分裂信号(Dako),研究了3例SC和6例ACC中ETV6重排的情况。如果超过10%的细胞核显示“分裂信号”(即红色和绿色信号之间的距离大于两个杂交信号的大小),则认为病例存在ETV6基因重排。3例SC中有超过10%的肿瘤细胞显示ETV6分裂信号,而6例ACC均未显示任何明确的ETV6基因重排证据。
基于ACC中缺乏ETV6重排,我们的结果有力地支持了SC和ACC是不同实体的概念,应在乳腺癌分类方案中分别记录。