Papillary thyroid carcinoma: an easy fine needle aspiration biopsy diagnosis?
FNAB diagnosis of PTC is not always possible, with success rate influenced by lesion type and size, accompanying diagnoses, representativeness of cytology sample and experience of the cytopathologist.
Our patient represents a novel phenotype for homozygous PMS2 mutation and perhaps the most severe colorectal cancer phenotype-in terms of numbers of malignancies at an early age-described to date. PMS2 mutations-and perhaps other homozygous mismatch repair mutations-should be considered in any patient presenting with multiple gastrointestinal tumors, since our patient could not be distinguished clinically from cases with attenuated familial adenomatous polyposis or MUTYH-associated polyposis.