Concurrent lymph node metastases of medullary and papillary thyroid carcinoma in a case with RET oncogene germline mutation.
We report the case of a 72 yr-old woman who underwent total thyroidectomy and resection of neck lymph nodes because of a firm nodule in the right lobe, which was consistent with medullary thyroid carcinoma (MTC) on cytological examination. Histology showed multifocal bilateral MTC; a 2 mm papillary thyroid carcinoma (PTC) was also detected in the right lobe, next to a focus of MTC; five cervical lymph nodes contained MTC. In one right perithyroidal lymph node, concurrent metastases of MTC and PTC were demonstrated. DNA analysis showed a point mutation in exon 14 at codon 804 of the RET proto-oncogene locus, as frequently found in cases of familial MTC (FMTC). To our knowledge, this case represents the first documented case of concurrent lymph node metastases of MTC and PTC in a patient with RET proto-oncogene germline mutation. We report this unique case, discuss related thyroid malignancies, and suggest possible underlying pathogenetic mechanisms.
Department of Internal Medicine, ASL Modena, University of Modena, Italy. papigiampaolo@hotmail.com
G
G
Papi
S
S
Corrado
M G
MG
Pomponi
C
C
Carapezzi
A
A
Cesinaro
V A
VA
LiVolsi
D000368:Aged; D018276:Carcinoma, Medullary / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D002291:Carcinoma, Papillary / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D003131:Combined Modality Therapy; D018095:Germ-Line Mutation; D006801:Humans; D008207:Lymphatic Metastasis / Q000473:pathology*; D016609:Neoplasms, Second Primary / Q000235:genetics / Q000473:pathology / Q000601:surgery; D015513:Oncogene Proteins / Q000235:genetics*; D009857:Oncogenes; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D013965:Thyroidectomy; D016896:Treatment Outcome
C000715470:MAS1 protein, human; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases