Etzell J E, Devries S, Chew K, Florendo C, Molinaro A, Ljung B M, Waldman F M
Cancer Center, University of California San Francisco, San Francisco, CA 94143-0808, USA.
Hum Pathol. 2001 Mar;32(3):292-6. doi: 10.1053/hupa.2001.22759.
Lobular carcinoma in situ (LCIS) and infiltrating lobular carcinoma may represent different forms of the same disease based on their frequent clinical association and similar histologic features. Patients with LCIS are at increased risk of multicentric and bilateral disease. Thus, LCIS may represent both a precursor to infiltrating lobular carcinoma and a marker of risk for breast cancer. To identify genomic alterations in LCIS, comparative genomic hybridization was performed on 17 cases without concurrent invasive carcinoma. Loss involving chromosome 16q was present in 88% of cases and was the sole detected alteration in 29%. Gain involving 1q was second in frequency, occurring in 41% of tumors, and in all cases was associated with loss of 16q. Other recurrent changes were loss involving 17p (18%), 8p (12%), and 12q24 (12%). E-cadherin immunohistochemistry was performed on all LCIS cases to evaluate the correlation of loss involving 16q22, the site of the E-cadherin gene, and altered protein expression. Most cases with 16q22 loss showed altered E-cadherin expression (12 of 13). These results in LCIS are similar to changes reported in infiltrating lobular cancer, confirming a genetic relationship between them. HUM PATHOL 32:292-296.
小叶原位癌（LCIS）和浸润性小叶癌可能基于它们常见的临床关联和相似的组织学特征而代表同一疾病的不同形式。LCIS患者发生多中心和双侧疾病的风险增加。因此，LCIS可能既是浸润性小叶癌的前驱病变，也是乳腺癌风险的一个标志物。为了确定LCIS中的基因组改变，对17例无并发浸润癌的病例进行了比较基因组杂交。88%的病例存在16号染色体长臂（16q）缺失，29%的病例这是唯一检测到的改变。1号染色体长臂（1q）增益在频率上位居第二，在41%的肿瘤中出现，并且在所有病例中都与16q缺失相关。其他常见改变包括17号染色体短臂（17p）缺失（18%）、8号染色体短臂（8p）缺失（12%）和12号染色体长臂24区（12q24）缺失（12%）。对所有LCIS病例进行了E-钙黏蛋白免疫组化，以评估16q22（E-钙黏蛋白基因所在位点）缺失与蛋白表达改变之间的相关性。大多数16q22缺失的病例显示E-钙黏蛋白表达改变（13例中有12例）。LCIS的这些结果与浸润性小叶癌中报道的改变相似，证实了它们之间的遗传关系。《人类病理学》32:292 - 296。
