Hepatoid Thymic Carcinoma in a Polycythemia Vera Patient Treated with Ropeginterferon Alfa-2b: Clinical, Histopathological and Molecular Correlates

IF 2.9 4区医学 Q2 PATHOLOGY

Pathology, research and practice Pub Date : 2024-10-09 DOI:10.1016/j.prp.2024.155648

Giuseppe G. Loscocco , Margherita Vannucchi , Raffaella Santi , Andrea Amorosi , Stefania Scarpino , Maria Chiara Siciliano , Paola Guglielmelli , Claudio Tripodo , Arianna Di Napoli , Alessandro M. Vannucchi

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Abstract

Hepatoid thymic carcinoma (HTC) is an extremely rare variant of primary epithelial tumor of the thymus morphologically resembling hepatocellular carcinoma Herein, we report an additional case of HTC diagnosed in a 40-years-old man affected by polycythemia vera and treated with ropeginterferon alfa 2-b, for the first time deeply analyzing the molecular profile of this distinctive thymic malignancy. By immunohistochemistry, tumor cells were positive for cytokeratin 7-19, GLUT1, and Hep-Par-1, whereas AFP tested negative. Whole exome sequencing revealed loss of function mutations in TP53, STK11, PBRM1, SMAD3, FN1, NTRK1, and FANCD2, as well as gain of function mutations in MTOR, BCL11A and COL1A1, along with amplification of CCND3 and MDM2. This mutational landscape halfway between thymic carcinoma (TP53, PBRM1) and hepatoid variant carcinoma of other sites (STK11) suggests that, at some point during carcinogenesis, a switch occurred from an epithelial thymic phenotype to a hepatoid-like one.

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一名接受罗培干扰素 Alfa-2b 治疗的多发性红细胞症患者的肝样胸腺癌：临床、组织病理学和分子相关性

肝样胸腺癌（Hepatoid thymic carcinoma，HTC）是一种极为罕见的胸腺原发性上皮性肿瘤变异，形态上与肝细胞癌相似。在此，我们报告了一例新的 HTC 病例，该患者是一名 40 岁的男性，因患真性红细胞增多症而接受了罗京干扰素 alfa 2-b 治疗，我们首次深入分析了这种独特的胸腺恶性肿瘤的分子特征。通过免疫组化，肿瘤细胞的细胞角蛋白7-19、GLUT1和Hep-Par-1呈阳性，而AFP呈阴性。全外显子组测序发现了TP53、STK11、PBRM1、SMAD3、FN1、NTRK1和FANCD2的功能缺失突变，以及MTOR、BCL11A和COL1A1的功能增益突变，还有CCND3和MDM2的扩增。这种介于胸腺癌（TP53、PBRM1）和其他部位肝样变异癌（STK11）之间的突变情况表明，在癌变过程中的某个阶段，胸腺上皮表型向肝样表型发生了转换。

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来源期刊

Pathology, research and practice 医学-病理学

CiteScore

5.00

自引率

3.60%

发文量

405

审稿时长

24 days

期刊介绍： Pathology, Research and Practice provides accessible coverage of the most recent developments across the entire field of pathology: Reviews focus on recent progress in pathology, while Comments look at interesting current problems and at hypotheses for future developments in pathology. Original Papers present novel findings on all aspects of general, anatomic and molecular pathology. Rapid Communications inform readers on preliminary findings that may be relevant for further studies and need to be communicated quickly. Teaching Cases look at new aspects or special diagnostic problems of diseases and at case reports relevant for the pathologist''s practice.