Kazakov Dmitry V, Sima Radek, Vanecek Tomas, Kutzner Heinz, Palmedo Gabriele, Kacerovska Denisa, Grossmann Petr, Michal Michal
Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Pilsen, Czech Republic.
Am J Dermatopathol. 2009 May;31(3):248-55. doi: 10.1097/DAD.0b013e318198922a.
Previous studies suggested that mutant beta-catenin gene cells in cutaneous adnexal tumors with matrical differentiation contribute to their tumorigenesis. Except for pilomatricoma and pilomatrical carcinoma, only a handful of other cutaneous adnexal tumor types have been studied. DNA was extracted from 86 lesions including 17 proliferating tricholemmal and trichilemmal tumors, 15 trichoblastomas, 7 trichoadenomas, 4 pilomatricomas, 1 pilomatrical carcinoma, 4 basal cell carcinomas (BCCs) with shadow cells, 2 trichofolliculomas, 3 BCCs with sebaceous differentiation, 9 sebaceous adenomas, 6 sebaceomas, 14 sebaceous carcinomas (both ocular and extraocular forms), 2 gigantic horns, and 2 apocrine mixed tumors with shadow cells and subjected to polymerase chain reaction with newly designed primers encompassing glycogen synthase kinase-3beta phosphorylation sites of the CTNNB1 gene. Also, 3 craniopharyngiomas were studied. Sequenced polymerase chain reaction products for possible beta-catenin gene mutations showed a total of 8 alterations. These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). This study broadens the list of cutaneous adnexal tumors harboring CTNNB1 mutations and extends the listing of the mutations occurring in these neoplasms.
先前的研究表明，具有基质分化的皮肤附属器肿瘤中的突变β-连环蛋白基因细胞有助于其肿瘤发生。除了毛母质瘤和毛母质癌外，仅对少数其他皮肤附属器肿瘤类型进行了研究。从86个病变中提取DNA，包括17个增殖性外毛根鞘瘤和外毛根鞘瘤、15个毛母细胞瘤、7个毛囊腺瘤、4个毛母质瘤、1个毛母质癌、4个伴有影子细胞的基底细胞癌（BCC）、2个毛囊瘤、3个具有皮脂腺分化的BCC、9个皮脂腺腺瘤、6个皮脂腺瘤、14个皮脂腺癌（眼内和眼外形式）、2个巨大角和2个伴有影子细胞的顶泌汗腺混合瘤，并使用新设计的包含CTNNB1基因糖原合酶激酶-3β磷酸化位点的引物进行聚合酶链反应。此外，还研究了3个颅咽管瘤。对可能的β-连环蛋白基因突变的聚合酶链反应产物进行测序，共发现8处改变。其中包括5种不同的点突变，其中3种在2种不同肿瘤中被鉴定出来：S23N（筛状毛母细胞瘤）、D32Y（毛母质瘤和颅咽管瘤）、G34R（毛母质癌和颅咽管瘤）、S37F（2个伴有影子细胞分化的BCC）和G34V（颅咽管瘤）。本研究拓宽了携带CTNNB1突变的皮肤附属器肿瘤的范围，并扩展了这些肿瘤中发生的突变列表。
