免疫治疗过程中发生的具有神经内分泌和胰腺腺泡细胞分化以及体细胞 MEN1 失活的反复发作的胃两栖肿瘤。
Recurrent gastric amphicrine tumor with neuroendocrine and pancreatic acinar cell differentiation and somatic MEN1 inactivation arisen during immunotherapy.
发表日期:2023 Aug 15
作者:
Maria G Mastrosimini, Andrea Mafficini, Luca Tondulli, Michele Milella, Paola Piccoli, Paola Mattiolo, Matteo Fassan, Seung-Mo Hong, Aldo Scarpa, Claudio Luchini
来源:
Cellular & Molecular Immunology
摘要:
双分泌瘤(Amphicrine neoplasms,简称ANs)是由同时具有外分泌和神经内分泌特征的上皮恶性肿瘤,其机制尚不明确。本文报道了一例复发性粘液产生型胃双分泌瘤,其同时表达神经内分泌标志物(chromogranin-A、synaptophysin和CD56)和胰腺腺泡细胞标志物(BCL10和胰蛋白酶),该病例发生在一名64岁女性在接受黑色素瘤辅助免疫治疗期间。Ki-67水平<2%。胃组织背景为萎缩性胃炎。下一代测序显示MEN1基因突变(p.P71fs*42)伴有等位基因丢失。研究得出以下关键结论:(1)胃ANs可能同时存在具有外分泌粘液产生元素、神经内分泌和胰腺腺泡分化特征;(2)它们可能是在萎缩性胃炎和免疫治疗期间发生的新实体;(3)胃神经内分泌肿瘤的诊断工作中应该考虑ANs;(4)它们的分子特征与良性神经内分泌肿瘤存在明显相似性。这些发现有助于提高对ANs的了解和生物分类学。© 2023年该作者(作者们),独家授权给Springer-Verlag GmbH Germany,Springer Nature的一部分。
Amphicrine neoplasms (ANs) are poorly understood epithelial malignancies composed of cells with co-existing exocrine-neuroendocrine features. Here, we report a recurrent mucin-producing gastric amphicrine tumor co-expressing neuroendocrine (chromogranin-A, synaptophysin, and CD56) and pancreatic acinar cell (BCL10 and trypsin) markers, arisen in a 64-year-old woman during adjuvant immunotherapy for melanoma. Ki-67 was < 2%. The gastric background context was atrophic gastritis. Next-generation sequencing showed MEN1 mutation (p.P71fs*42) coupled with loss of heterozygosity. The key lessons were as follows: (1) gastric ANs can show the co-existence of exocrine mucin-producing elements with neuroendocrine and pancreatic acinar differentiation; (2) they may represent a new entity arising in the context of atrophic gastritis and during immunotherapy; (3) they should be considered in the diagnostic workup of gastric neuroendocrine tumors; and (4) their molecular profile can show striking similarities with well-differentiated neuroendocrine tumors. These findings may be of help to improve the knowledge and the biological taxonomy of ANs.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.