Familial non-medullary thyroid cancer: a critical review
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REVIEW
Familial non‑medullary thyroid cancer: a critical review M. Capezzone1 · E. Robenshtok2,3 · S. Cantara1 · M. G. Castagna1 Received: 7 July 2020 / Accepted: 25 September 2020 © The Author(s) 2020
Abstract Background Familial non-medullary thyroid carcinoma (FNMTC), mainly of papillary histotype (FPTC), is defined by the presence of the disease in two or more first-degree relatives in the absence of other known familial syndromes. With the increasing incidence of PTC in the recent years, the familial form of the disease has also become more common than previously reported and constitutes nearly 10% of all thyroid cancers. Many aspects of FNMTC are debated, concerning both clinical and genetic aspects. Several studies reported that, in comparison with sporadic PTCs, FPTCs are more aggressive at disease presentation, while other authors reported no differences in the clinical behavior of sporadic and familial PTCs. For this reason, recent guidelines do not recommend screening of family members of patients with diagnosis of differentiated thyroid cancer (DTC). FNMTC is described as a polygenic disorder associated with multiple low- to moderate-penetrance susceptibility genes and incomplete penetrance. At the moment, the genetic factors contributing to the development of FNMTC remain poorly understood, though many putative genes have been proposed in the recent years. Purpose Based on current literature and our experience with FNMTC, in this review, we critically discussed the most relevant controversies, including its definition, the genetic background and some clinical aspects as screening and treatment. Keywords Familial papillary thyroid cancer · Familial non medullary thyroid cancer · Syndromic thyroid cancer
Definition of familial cancer A comprehensive and accurate family cancer history is essential for cancer risk assessment, reflecting complex interactions among inherited genetic susceptibilities, shared environmental and behavioral factors [1]. An estimated 20% of cancer patients have a positive family history of cancer without the specified criteria for hereditary cancer, and are generally at a moderately increased risk of developing cancer when compared with the general population. These Familial cancers (FC), defined by the diagnosis of the same type of cancer in two or more first-degree relatives in the
* M. G. Castagna [email protected] 1
Section of Endocrinology and Metabolism, Department of Medical, Surgical and Neurological Sciences, University of Siena, Policlinico Santa Maria alle Scotte, Viale Bracci 1, 53100 Siena, Italy
2
Institute of Endocrinology, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel
3
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
absence of known germline mutations, have been described for most major organ systems. A list of the definitions of most frequent familial cancers is shown in Table 1 [2–7].
Epidemiology of familial cancer Epidemiologists used family history (FH), usually of firstdegree relatives (F
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