Galuppini Francesca, Salmaso Roberta, Valentini Elisa, Lanza Cristiano, Maretto Isacco, Nitti Donato, Rugge Massimo, Fassan Matteo
Department of Medicine (DIMED), Surgical Pathology Unit, University of Padua, Padua, Italy.
Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), First Surgical Clinic Section, University of Padua, Padua, Italy.
Pathol Res Pract. 2017 Aug;213(8):1010-1013. doi: 10.1016/j.prp.2017.05.004. Epub 2017 May 23.
Adenosquamous carcinoma (ASC) of the gallbladder is a rare malignant tumor that is characterized by a coexisting of glandular and squamous components. In a case of ASC, we performed hotspot multigene mutational profiling of 164 hotspot regions of eleven cancer-associated genes (AKT1, APC, BRAF, CTNNB1, KIT, KRAS, NRAS, PDGFRA, PIK3CA, PTEN and TP53) in the two microdissected components. Both tumor phenotypes resulted characterized by a p.E542K point mutation in the PIK3CA gene, whereas adenocarcinoma component revealed also a TP53 Q331* homozygous stop mutation. Of note, coexisting high-grade dysplastic epithelium was characterized by a mixed cell population, with an upper part featuring a glandular differentiation and a basal layer of p63 positive (squamous committed) cells. Overall these data provide evidence of an early squamous differentiation of the lesion with a common genetic landscape of the two components.
胆囊腺鳞癌（ASC）是一种罕见的恶性肿瘤，其特征是同时存在腺性和鳞状成分。在一例ASC病例中，我们对两个显微切割成分中11个癌症相关基因（AKT1、APC、BRAF、CTNNB1、KIT、KRAS、NRAS、PDGFRA、PIK3CA、PTEN和TP53）的164个热点区域进行了热点多基因突变分析。两种肿瘤表型均以PIK3CA基因中的p.E542K点突变为特征，而腺癌成分还显示出TP53 Q331*纯合终止突变。值得注意的是，并存的高级别发育异常上皮以混合细胞群为特征，上部具有腺性分化，基底层为p63阳性（鳞状定向）细胞。总体而言，这些数据为病变的早期鳞状分化以及两个成分的共同遗传格局提供了证据。
