未经证实:林奇综合征患者同时发生或异时性肿瘤的风险增加,而肉瘤偶尔也有报道。肉瘤通常不被认为是常见的Lynch综合征肿瘤谱的一部分。然而,越来越多的研究和病例报告提示肉瘤可能是Lynch综合征的罕见临床表现,导致肉瘤的新治疗策略。
UNASSIGNED:我们报告一例74岁男性患者,患有直肠黏液腺癌和前列腺腺癌,两年后发展为左颈部未分化肉瘤。通过对错配修复蛋白MSH2、MSH6、MLH1和PMS2的免疫组织化学染色确认错配修复缺陷(dMMR)。肉瘤的聚合酶链反应(PCR)微卫星不稳定性(MSI)测试结果显示了高水平的微卫星不稳定性(MSI-H)。此外,通过下一代测序(NGS)检测到MSH2中的致病性种系突变(c.2459-12A>G).考虑到HE形态学,免疫组织化学表型,MSI状态,NGS结果,病史和种系MSH2基因突变,左颈活检组织病理诊断为Lynch综合征相关未分化肉瘤伴上皮样形态。患者一直在接受免疫治疗(sintilimab)联合化疗(tegafur,gimeracil和oeracil钾胶囊),目前病情稳定。我们还回顾了文献,以了解肉瘤与Lynch综合征之间的关联。
未经证实:现在可能认为肉瘤是Lynch综合征的一种罕见临床表现。需要增加对Lynch综合征与肉瘤之间关联的关注和认识。因此,及时检测MMR蛋白并在基因水平上对可疑患者进行验证是避免漏诊或延迟诊断以及确定适合免疫治疗的患者的关键。这也可能有助于为患者提供适当的遗传咨询和后续管理。
UNASSIGNED: Patients with Lynch syndrome are at an increased risk of developing simultaneous or metachronous tumors, while sarcomas have been occasionally reported. Sarcomas are generally not considered part of the common Lynch syndrome tumor spectrum. However, more and more studies and
case reports suggested that sarcoma could be a rare clinical manifestation of Lynch syndrome, leading to new treatment strategies for sarcoma.
UNASSIGNED: We report the
case of a 74-year-old male patient with Lynch syndrome who had rectal mucinous adenocarcinoma and prostate adenocarcinoma and then developed undifferentiated sarcoma of the left neck two years later. Mismatch repair deficiency (dMMR) was confirmed by immunohistochemical staining for the mismatch repair proteins
MSH2, MSH6, MLH1 and PMS2. The result of polymerase chain reaction (PCR) microsatellite instability (MSI) testing of sarcoma showed high-level microsatellite instability (MSI-H). Additionally, a pathogenic germline mutation in
MSH2 (c.2459-12A>G) was detected by next-generation sequencing (NGS). Taking into account HE morphology, immunohistochemical phenotype, MSI status, NGS result, medical history and germline
MSH2 gene mutation, the pathological diagnosis of left neck biopsy tissue was Lynch syndrome related undifferentiated sarcoma with epithelioid morphology. The patient has been receiving immunotherapy (sintilimab) combined with chemotherapy (tegafur, gimeracil and oteracil potassium capsules) and currently has stable disease. We also reviewed the literature to understand the association between sarcoma and Lynch syndrome.
UNASSIGNED: Sarcoma may now be considered a rare clinical manifestation of Lynch syndrome. Attention and awareness about the association between Lynch syndrome and sarcoma need to be increased. Therefore, timely detection of MMR proteins and validation at the gene level for suspicious patients are the keys to avoiding missed or delayed diagnosis and to identifying patients suited for immunotherapy, which may also help to provide appropriate genetic counseling and follow-up management for patients.