Familial Papillary Thyroid Carcinoma: Genetics, Criteria for Diagnosis, Clinical Features, and Surgical Treatment |
| |
Authors: | Thomas J Musholt Petra B Musholt Thorsten Petrich Gundula Oetting Wolfram H Knapp Juergen Klempnauer |
| |
Institution: | (1) Department of Visceral and Transplantation Surgery, Hannover University Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany, DE;(2) Department of Nuclear Medicine and Special Biophysics, Hannover University Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany, DE |
| |
Abstract: | Hereditable predisposition to papillary thyroid carcinoma (PTC) and multinodular goiter (MNG) without evidence of an association
with other malignancies as a distinct entity was recognized only recently. A meta-review of the literature on familial PTC
(FPTC) was undertaken, and characteristics of families with frequent occurrence of PTC or MNG (or both) were summarized. A
database on thyroid cancer patients maintained in our institution was searched for potential FPTC families. Clinical examinations
were performed in 6 of 12 Hannover kindreds identified, and blood samples of all family members were collected for genetic
analyses. Clinical presentations and histopathologic features of the FPTC cases were compiled. Based on the FPTC meta-review
and own experience, predictive criteria to identify families at risk were developed: Exclusion criteria were previous radiation
exposure and coincidence with neoplasia syndromes. Primary criteria for susceptibility to FPTC are (1) PTC in two or more
first-degree relatives and (2) MNG in at least three first- or second-degree relatives of a PTC patient. Secondary criteria
are diagnosis in a patient younger than 33 years, multifocal or bilateral PTC, organ-exceeding tumor growth (T4), metastasis
(N1, M1), and familial accumulation of adolescent-onset thyroid disease. A hereditary predisposition to PTC is considered
if both primary criteria or one primary criterion plus three secondary criteria are present. Family history-taking is recommended
for all PTC patients to identify FPTC kindreds at risk. Blood relatives of FPTC index patients who harbor MNG should undergo
thorough and regular clinical screening. Suspicious lesions should prompt early surgical intervention. |
| |
Keywords: | |
本文献已被 PubMed SpringerLink 等数据库收录! |
|