Scholarlink

<p><i>MUTYH</i>-associated polyposis (MAP) is an autosomal recessive tumor syndrome caused by biallelic mutations in the <i>MUTYH</i> gene, primarily associated with an increased risk of colorectal adenomas and carcinoma. However, the tumor spectrum in heterozygous <i>MUTYH</i> mutation carriers remains poorly defined. Here, we report the first case of a patient with a germline heterozygous <i>MUTYH</i> mutation who developed metachronous multiple primary tumors. The patient initially presented with a thyroid collision tumor (synchronous papillary thyroid carcinoma and medullary thyroid carcinoma) at age 55. Two years later, he was diagnosed with non-keratinizing squamous cell carcinoma of the thymus, accompanied by left cervical lymph node metastasis of papillary thyroid carcinoma (PTC). Subsequent next-generation sequencing of the lymph node metastasis revealed a novel heterozygous <i>MUTYH</i> frameshift mutation, c.848delT (p.M283Rfs*3), which was confirmed to be of germline origin by Sanger sequencing of the patient’s normal thyroid tissue. This case expands the disease spectrum associated with heterozygous <i>MUTYH</i> carriers and enhances the understanding of the phenotypic heterogeneity of tumors in this population.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

First report of synchronous papillary, medullary, and thymic carcinomas in a patient carrying a germline heterozygous MUTYH mutation

  • 期刊论文

  • 发表日期：

    2026年4月14日

查看全文
  • Luanxue Yu,
  • Nan Song,
  • Jiawei Ming,
  • Yu Wang,
  • Sofia Asioli,
  • Zhenying Guo,
  • Minghua Ge

摘要

MUTYH-associated polyposis (MAP) is an autosomal recessive tumor syndrome caused by biallelic mutations in the MUTYH gene, primarily associated with an increased risk of colorectal adenomas and carcinoma. However, the tumor spectrum in heterozygous MUTYH mutation carriers remains poorly defined. Here, we report the first case of a patient with a germline heterozygous MUTYH mutation who developed metachronous multiple primary tumors. The patient initially presented with a thyroid collision tumor (synchronous papillary thyroid carcinoma and medullary thyroid carcinoma) at age 55. Two years later, he was diagnosed with non-keratinizing squamous cell carcinoma of the thymus, accompanied by left cervical lymph node metastasis of papillary thyroid carcinoma (PTC). Subsequent next-generation sequencing of the lymph node metastasis revealed a novel heterozygous MUTYH frameshift mutation, c.848delT (p.M283Rfs*3), which was confirmed to be of germline origin by Sanger sequencing of the patient’s normal thyroid tissue. This case expands the disease spectrum associated with heterozygous MUTYH carriers and enhances the understanding of the phenotypic heterogeneity of tumors in this population.