Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics.
We present here two cases of papillary thyroid carcinoma (PTC) in patients affected by Lynch syndrome (LS). The first case is a 47-year-old woman with typical hereditary non-polyposis colorectal cancer (HNPCC) syndrome, reported with endometrial and ovarian carcinoma at age 43, and colon cancer at age 45. The patient underwent total thyroidectomy and central node dissection in 2007, at 47years old, with a histological diagnosis of PTC (T1aN1a). Molecular genetics showed a germ-line mutation of the MLH1 gene, 1858 G>T(E620X), with substitution of glycine with a stop codon at position 620. This mutation has pathogenetic significance and was considered responsible for the various tumours of the HNPCC spectrum. In particular, in the same kindred, spanning 5 generations, there were 5 members with colorectal cancer, 4 with endometrial cancer, 3 with gastric and 2 with breast cancer. The second case is a 34-year-old man with typical HNPCC syndrome with colonic resection for colon cancer at age 21. The patient underwent total thyroidectomy with central and lateral node dissection in 2010, at age 34, with a histological diagnosis of PTC with nodal metastases (pT4N1b). Molecular genetic analysis showed a germ-line mutation of the MSH2 gene (thymine insertion at position 907). This mutation had pathogenetic significance and was considered responsible for HNPCC development. Two similar cases have been reported: a 39-year-old woman, and a 44-year-old woman, affected by HNPCC syndrome, with anaplastic thyroid carcinoma and undifferentiated thyroid carcinoma, respectively. We reviewed the Lynch syndrome literature on the history, genetics and expanding tumour spectrum of this condition.
Department of Oncological Surgery and Gastroenterology (DiSCOG), Clinica Chirurgica II, University of Padova, Padova, Italy.
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MR
Pelizzo
Department of Medicine (DIMED), Surgical Pathology and Cytopathology Unit, University of Padova, Padova, Italy.
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Pennelli
Department of Oncological Surgery and Gastroenterology (DiSCOG), Clinica Chirurgica II, University of Padova, Padova, Italy.
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Zane
Department of Medicine (DIMED), Surgical Pathology and Cytopathology Unit, University of Padova, Padova, Italy.
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Galuppini
Department of Radiology, University of Southern California, Los Angeles, CA, USA.
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PM
Colletti
Department of Oncological Surgery and Gastroenterology (DiSCOG), Clinica Chirurgica II, University of Padova, Padova, Italy.
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Merante Boschin
Department of Nuclear Medicine, Santa Maria della Misericordia Hospital, Rovigo, Italy. Electronic address: rubello.domenico@azisanrovigo.it.
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Rubello
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D002277:Carcinoma / Q000209:etiology* / Q000235:genetics / Q000601:surgery; D002291:Carcinoma, Papillary; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications* / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008197:Lymph Node Excision; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000209:etiology* / Q000235:genetics / Q000601:surgery; D013965:Thyroidectomy
D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
Clinical and genetic characteristics; Lynch syndrome; Papillary thyroid carcinoma