Distinct Thyroid Pathology Findings from Patients with Li-Fraumeni Syndrome
Victoria Sujoy, Justine Barletta, Vania Nose. University of Miami, Miami, FL; Brigham and Women's Hospital, Boston, MA
Background: Li-Fraumeni syndrome (LFS) is a classic cancer predisposition syndrome that is secondary to germline p53 mutations. The most common tumors associated with LFS are soft tissue sarcomas, premenopausal breast cancers, and adrenal cortical carcinomas (ACC). Thyroid pathology findings from patients with LFS have not been reported.
Design: We identified thyroidectomy specimens from 4 patients previously diagnosed with LFS. All findings from the preceding fine needle aspiration (FNA) biopsies were reviewed and all H&E slides of the thyroidectomy specimens were evaluated. Clinical history was obtained from electronic medical records.
Results: The thyroidectomies were from 1 man (30 years-old) and 3 women (31, 33 and 52 years-old). Two patients had a history of a soft tissue sarcoma, 2 patients had a history of breast carcinoma, and 1 patient had a history of ACC. Three of the thyroids showed severe cytologic atypia. In 1 case the atypia was present within adenomatous change of nodular hyperplasia, in 2 cases it was present within adenomatous nodules (including oncocytic nodules), and in 1 case it was present within a minimally invasive follicular thyroid carcinoma. One case had a history of prior head and neck irradiation; however, the atypia in this case was beyond that seen with radiation, and in all cases was beyond typical "endocrine atypia". The severe cytologic atypia was observed in the prior FNA biopsies, and in one case prompted concern that the nodule could represent a metastasis of the patient's prior ACC. One case lacked nodules with severe cytologic atypia. Instead, this case had multifocal follicular variant of papillary thyroid carcinoma (PTC), with a prior FNA that was positive for PTC.
Conclusions: This is the first report of histologic thyroid findings from patients with LFS. The common thyroid pathology findings are bilateral involvement of both lobes by multiple nodules. Furthermore, the most striking feature was the profound cytologic atypia that was present within thyroid nodules in these cases. While this atypia, in the context of an underlying germline p53 mutation, raised concern for an aggressive malignancy, the clinical significance of this severe atypia is at this time uncertain. Thyroid involvement may be considered as an associated event in patients with LFS and possibly included as one of the familial thyroid syndromes.
Wednesday, March 6, 2013 1:00 PM
Poster Session VI # 69, Wednesday Afternoon