Chiosea Simion I, Miller Megan, Seethala Raja R
Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Head Neck Pathol. 2014 Jun;8(2):146-50. doi: 10.1007/s12105-013-0506-4. Epub 2013 Nov 26.
The molecular profile of epithelial-myoepithelial carcinomas (EMCa) has not been well studied, though a recent association with Harvey rat sarcoma viral oncogene homolog (HRAS) mutations has been noted. To confirm and validate this, we surveyed fifteen EMCa for HRAS codon 61 mutations and correlated HRAS status with clinicopathologic parameters. There were 11 females and 4 males and mean patient age was 64 (range 49-90). Parotid gland was most commonly involved (n = 10) and the most common histologic appearance was that of a 'classic' EMCa (7/15). Four of fifteen (26.7 %) cases demonstrated local recurrence, while 2/15 (13.3 %) demonstrated distant metastases. Other variant morphologies included EMCa arising from pleomorphic adenoma (3/15), and high grade EMCa (2/15). HRAS exon 3, codon 61 mutations, p.Q61R (n = 3) and p.Q61 K (n = 1) were identified in 4 of 15 successfully tested EMCAs (14 patients). Two cases were classic type, while the other cases consisted of one oncocytic variant, and one tumor with myoepithelial overgrowth, the latter of which showed the same mutation in both the primary and recurrence. Of note, the high grade EMCa and EMCa ex pleomorphic adenoma were negative for mutations. Given the small number of cases, there were no significant differences between mutation positive and mutation negative cases in terms of age, gender and outcome.
上皮-肌上皮癌(EMCa)的分子特征尚未得到充分研究,不过最近已注意到其与哈维大鼠肉瘤病毒癌基因同源物(HRAS)突变有关。为了证实和验证这一点,我们对15例EMCa进行了HRAS密码子61突变检测,并将HRAS状态与临床病理参数相关联。患者中有11名女性和4名男性,平均年龄为64岁(范围49 - 90岁)。腮腺是最常受累的部位(n = 10),最常见的组织学表现为“经典”型EMCa(7/15)。15例中有4例(26.7%)出现局部复发,2例(13.3%)出现远处转移。其他变异形态包括起源于多形性腺瘤的EMCa(3/15)和高级别EMCa(2/15)。在成功检测的15例EMCa中的4例(14名患者)中鉴定出HRAS外显子3密码子61突变,即p.Q61R(n = 3)和p.Q61K(n = 1)。2例为经典型,其他病例包括1例嗜酸细胞变异型和1例肌上皮过度生长的肿瘤,后者在原发灶和复发灶中均显示相同的突变。值得注意的是,高级别EMCa和多形性腺瘤来源的EMCa未检测到突变。鉴于病例数量较少,在年龄、性别和预后方面,突变阳性和突变阴性病例之间没有显著差异。