Abstract
To assess whether familial non-medullary thyroid cancer (FNMTC) represents an independent risk factor for increased aggressiveness of the tumor, as concern as the clinical presentation and the long-term follow-up in respect of sporadic differentiated thyroid cancer (SDTC). Retrospective study; 1976-2014. Seventy-four FNMTC families (151 affected individuals): family relationship and number of affected family members were evaluated. Clinical and histopathological features and outcome were compared to that of 643 SDTC patients followed in the same period according to the same institutional protocols. Median follow-up was 57.7 months (range 12-136) in FNMTC and 59.7 (range 15-94.6) in SDTC patients. Three cases occurred in 3 families and 2 cases in the other 71. F:M was 3.7:1 in FNMTC and 4.3:1 in SDTC (NS). The family relationship was siblings in 62.2%. Mean age at diagnosis was lower in FNMTC than in SDTC (p < 0.005). Papillary/follicular histotype distribution was similar (86%). Papillary tumors were more frequently multifocal in FNMTC (p = 0.004) and with lymph-node metastases (p = 0.016). Disease-free survival (DFS) was shorter in FNMTC vs. SDTC (p < 0.0001) with 74.8 vs. 90.8% patients free of disease at the last control (p < 0.005). Three patients died in FNMTC group vs. 1 in SDTC (p = 0.02). Familial non-medullary thyroid cancer displays distinct characteristics as earlier age of onset and increased aggressiveness at diagnosis and a higher rate of persistent/recurrent disease and mortality with a shorter DFS in respect with SDTC. FNMTC patients, therefore, should be followed accurately. As the specific gene (or genes) responsible for susceptibility for FNMTC has not yet been identified, a low frequency periodic screening of relatives DTC patients may be useful to identify FNMTC patients at early stage of disease.
Highlights
Familial non-medullary thyroid cancer (FNMTC) represents approximately 3–7% of all thyroid cancers that originate from thyroid follicular epithelial cells [1].Since the genetic alterations responsible for this disease are not known, FNMTC is defined as the condition in which two or more first-degree relatives are affected by thyroid cancer in the absence of a known familial syndrome.due to the high prevalence of differentiated thyroid carcinoma (DTC), it is estimated that when two members of the same family are affected, there is a 53% probability that the disease has a familial origin and a 47% probability that it is sporadic
The present study aims to assess whether FNMTC represents a homogeneous biological entity that is significantly different from sporadic differentiated thyroid cancer (SDTC)
In FNMTC, we found a lower proportion of microcarcinomas than in sporadic thyroid cancer (60/151 vs. 316/643, respectively, p = 0.038)
Summary
Familial non-medullary thyroid cancer (FNMTC) represents approximately 3–7% of all thyroid cancers that originate from thyroid follicular epithelial cells [1].Since the genetic alterations responsible for this disease are not known, FNMTC is defined as the condition in which two or more first-degree relatives are affected by thyroid cancer in the absence of a known familial syndrome.due to the high prevalence of differentiated thyroid carcinoma (DTC), it is estimated that when two members of the same family are affected, there is a 53% probability that the disease has a familial origin and a 47% probability that it is sporadic. Familial non-medullary thyroid cancer (FNMTC) represents approximately 3–7% of all thyroid cancers that originate from thyroid follicular epithelial cells [1]. Since the genetic alterations responsible for this disease are not known, FNMTC is defined as the condition in which two or more first-degree relatives are affected by thyroid cancer in the absence of a known familial syndrome. Due to the high prevalence of differentiated thyroid carcinoma (DTC), it is estimated that when two members of the same family are affected, there is a 53% probability that the disease has a familial origin and a 47% probability that it is sporadic. To be defined familial, FNMTC should not represent the phenotypic expression of a genetic familial syndrome. There are, familial cancer syndromes regarding non-thyroid tumors where thyroid carcinoma may be present. These include the Cowden syndrome (multiple hamartomas in the skin and mucosa and cancers in various organs and tissues, such as the breast, thyroid, and uterus), the familial adenomatous polyposis (FAP) characterized by multiple and diffuse adenomatous polyps in the colon, osteomas, epidermoid cysts, desmoid tumors, hamartomas of the upper digestive tract, congenital hypertrophy of retinal pigment epithelium, hepatoblastoma, and the Carney complex (pigmentation of the skin and mucous membranes, mucosal lesions, and tumors of the endocrine glands, such as pituitary and adrenal adenomas, Sertoli and Leydig cell tumors, and thyroid carcinoma), the Werner syndrome (characterized by premature aging, bilateral cataracts, gray hair, skin atrophy, and cancer in different organs including the thyroid), and syndromes in which thyroid cancer is associated with clear cell renal carcinoma [3, 4]
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