炎性肌纤维母细胞瘤(IMT)是罕见的病变,具有明显的临床,病态,和分子特征。IMT通常出现在腹部软组织中,包括肠系膜,网膜,和腹膜后,其次是肺和纵隔,通常会影响儿童和年轻人。在这里,我们介绍了一名47岁男性患者颌下腺IMT的罕见病例。微观上,肿瘤表现为浸润性生长模式,弥漫性腺体组织破坏。他们的背景揭示了特征性纺锤体和炎症细胞。免疫组织化学显示为间变性淋巴瘤激酶(ALK)阳性,平滑肌肌动蛋白,和肿瘤细胞中的钙蛋白。炎性细胞和一些肿瘤细胞CD68阳性。相比之下,细胞角蛋白阴性染色,desmin,观察到CD30。此外,荧光原位杂交显示ALK基因重排,和下一代测序检测到一个moesin(MSN)-ALK基因融合。此病例突出了源自下颌下腺的IMT的罕见且独特的发生,表现出MSN-ALK基因融合。
Inflammatory myofibroblastic tumors (IMTs) are rare lesions with distinct clinical, pathological, and molecular characteristics. IMTs typically arise in the abdominal soft tissues, including the mesentery, omentum, and retroperitoneum, followed by the lungs and mediastinum, and usually affect both children and young adults. Herein, we present a rare case of an IMT in the submandibular gland of a 47-year-old male patient. Microscopically, the tumor displayed an infiltrative growth pattern with diffuse glandular tissue destruction. Their backgrounds revealed characteristic spindles and inflammatory cells. Immunohistochemistry revealed positivity for anaplastic lymphoma kinase (ALK), smooth muscle actin, and calponin in neoplastic cells. The inflammatory cells and some neoplastic cells were positive for CD68. In contrast, negative staining for cytokeratin, desmin, and CD30 was observed. Furthermore, fluorescence in situ hybridization revealed ALK gene rearrangements, and next-generation sequencing detected a moesin (MSN)-ALK gene fusion. This case highlights a rare and unique occurrence of IMT originating from the submandibular gland, which exhibited an MSN-ALK gene fusion.