Erschienen in:
12.04.2022 | Research Letter
Papillary thyroid carcinoma as first and isolated neoplastic disease in a Lynch syndrome family member with a germline MLH1 mutation
verfasst von:
A. Verrienti, A. Carbone, M. Sponziello, V. Pecce, D. S. Cito, R. Bruno
Erschienen in:
Endocrine
|
Ausgabe 1/2022
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Excerpt
The Lynch syndrome (LS) is an autosomal dominant disorder characterized by a strongly increased risk of developing colorectal cancer and several extra-colonic malignancies, such as carcinomas of the endometrium, ovary, ureter, stomach, and small intestine [
1]. Lynch syndrome is caused by germline mutations in mismatch repair genes (MMR) [
2], mainly in
MLH1 and
MSH2, rarely in
MSH6 and
PMS2 [
3,
4]. Tumors usually develop at a relatively young age (<50 years). Some cancers, rare in this syndrome, can be incidentally diagnosed in one of the Lynch syndrome family members. Here we report the case of unusual presentation of papillary thyroid carcinoma in a young woman carrying the c.545 + 3 A > G mutation (rs267607760) in
MLH1gene. …