Feng Yifei, Feng Jianqing, Bao Jianrong
Department of Dermatology, The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Department of Dermatology, Taicang Hospital of Traditional Chinese Medicine, Suzhou, China.
Front Oncol. 2021 Jun 24;11:681780. doi: 10.3389/fonc.2021.681780. eCollection 2021.
Muir-Torre syndrome (MTS), a rare subtype of Lynch syndrome, is mostly autosomal dominant, which is caused by germline mutations in DNA mismatch repair (MMR) genes, the resulting microsatellite instability (MSI) of which increases the risk of developing sebaceous and other visceral tumors. Several reports have showed an association between immunosuppressive agents and the progression of latent MTS. In this report, we described a 41-year-old man with a history of kidney transplantation, having a rapid growth of the nodule on the anterior chest under immunosuppressive therapy, which was histologically proved to be sebaceous carcinoma. Systemic evaluation for visceral malignancies revealed sigmoid adenocarcinoma. These findings were consistent with the clinical diagnosis of MTS. Histological findings showed an absence of MMR proteins, including MSH2 and MSH6 both in the sebaceous carcinoma and sigmoid adenocarcinoma on immunohistochemical (IHC) analysis. A frame-shift mutation of c.229_230delAG (p. Ser77fs) in the MSH2 exon 2 in the lesion was detected by next-generation sequencing (NGS) analysis. This case report not only reveals a new site of MSH2 mutation in this family of East Asian descent but also highlights the importance of adequate diagnosis for Muir-Torre syndrome, as well as further prevention of the development of latent visceral tumors in kidney transplant recipients.
穆尔-托综合征（MTS）是林奇综合征的一种罕见亚型，多为常染色体显性遗传，由DNA错配修复（MMR）基因的种系突变引起，由此导致的微卫星不稳定性（MSI）增加了发生皮脂腺肿瘤和其他内脏肿瘤的风险。多项报告显示免疫抑制剂与潜伏性MTS的进展之间存在关联。在本报告中，我们描述了一名41岁有肾移植病史的男性，在免疫抑制治疗下其前胸结节迅速生长，组织学检查证实为皮脂腺癌。对内脏恶性肿瘤的全身评估显示患有乙状结肠癌。这些发现与MTS的临床诊断一致。组织学检查结果显示，免疫组化（IHC）分析显示皮脂腺癌和乙状结肠癌中均不存在MMR蛋白，包括MSH2和MSH6。通过下一代测序（NGS）分析在病变的MSH2外显子2中检测到c.229_230delAG（p.Ser77fs）的移码突变。本病例报告不仅揭示了这个东亚血统家族中MSH2突变的新位点，还强调了对穆尔-托综合征进行充分诊断的重要性，以及进一步预防肾移植受者潜在内脏肿瘤发生的重要性。
