Familial thyroid cancer: a review

Nosé, Vânia

doi:10.1038/modpathol.2010.147

Cited by 158 publications

(121 citation statements)

References 75 publications

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“…Medullary thyroid carcinoma (MTC) is the third most common thyroid neoplasm (3-10%) after papillary (50-80%) and follicular (10-40%) carcinomas (Hundahl et al 1998, Boyle 2008, Pacini et al 2010. A strong genetic component is known for medullary carcinoma, so that up to 25% of the cases are estimated to be heritable, caused by a gain-of-function germline mutation in the RET proto-oncogene (multiple endocrine neoplasia (MEN) type 2A and MEN2B and familial MTC (FMTC)) with an autosomal dominant mode of inheritance (Negri et al 2002, DeLellis et al 2004, Nose 2011. Despite the rarity of these syndromes and MTC in general, early diagnosis is especially important, since MTC is a lethal disease if not promptly and appropriately treated (Sakorafas et al 2008).…”

Section: Introductionmentioning

confidence: 99%

Risk of thyroid cancer in relatives of patients with medullary thyroid carcinoma by age at diagnosis

Fallah

Sundquist

Hemminki

2013

Endocrine-Related Cancer

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The familial risk of medullary thyroid carcinoma (MTC alone or as part of multiple endocrine neoplasms, MEN2A/MEN2B) is high, so we aimed to answer open questions about the lifetime cumulative risk of thyroid cancer (LCRTC at 0-79 years) among relatives of MTC patients by age and sex. For this nationwide study, a cohort of 3217 first-/second-degree relatives (FDRs/SDRs) of 389 MTC patients diagnosed in 1958-2010 in the Swedish Family-Cancer Database was followed for the incidence of thyroid cancer. The LCRTC in female relatives of patients with early-onset MEN2B (diagnosis age !25 years) was 44-57%, representing 140-520 times increase over the risk in their peers without a family history of endocrine tumors (men: LCRTCZ22-52%, 320-750 times) depending on the number of affected FDRs/SDRs. The LCRTC in female relatives of patients with late-onset MEN2B (diagnosis age R25 years) was about 15-43% (menZ24%). The LCRTC among relatives of early-onset MTC-alone patients was 3-20%. The LCRTC among relatives of late-onset MTC-alone patients was 5-26%. The LCRTC in female relatives of MEN2A patients was 16-63% (menZ52%). The relatives of patients with early-onset MTC exhibited a high tendency to develop early-onset thyroid cancer. Simply available data on the number of FDRs and even SDRs affected with MTC and their age at diagnosis were quite informative for the estimation of the risk of thyroid cancer in probands. In settings where genetic testing is not available or affordable for all, evidence-based cumulative risks reported in this nationwide study may help physicians to identify very high-risk individuals.

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Section: Introductionmentioning

confidence: 99%

Risk of thyroid cancer in relatives of patients with medullary thyroid carcinoma by age at diagnosis

Fallah

Sundquist

Hemminki

2013

Endocrine-Related Cancer

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“…The genetic and biological bases for the familial predisposition of NMTC (germline mutations) are only recently beginning to emerge 36 37. An Icelandic study revealed that two common variants, located on 9q22.33 near FOXE1 ( TTF2 ) gene (rs965513) and 14q13.3 near NKX2–1 ( TTF1 ) gene (rs944289), contribute to an increased risk of papillary and follicular thyroid cancers 38.…”

Section: Discussionmentioning

confidence: 99%

Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries

et al. 2013

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“…These patients can be followed closely and the thyroid cancer can be identified at an earlier stage. In a few patients, the thyroid cancer may be the initial presentation and the treating physician must be astute at recognizing the possibility of an underlying familial syndrome [31].…”

Section: Familial Tumor Syndromes Characterized By a Predominance Of mentioning

confidence: 99%

Familial Follicular Cell Tumors: Classification and Morphological Characteristics

Nosé

2010

Endocr Pathol

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Familial follicular cell-derived well-differentiated thyroid cancer, papillary (PTC), and follicular thyroid carcinomas (FTC), accounts for 95% of thyroid malignancies. The majority of are sporadic, and at least 5% of these patients will have familial disease. Familial thyroid syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C cells, and familial follicular cell tumors or non-medullary thyroid carcinoma (FNMTC), derived from follicular cells. Twenty-five percent of patients with medullary thyroid cancer (MTC) have a familial form; however, this accounts for only 1% of all patients with thyroid cancer. The familial follicular cell-derived lesions or familial non-medullary thyroid cancer can be divided into two clinical-pathological groups. The first group includes familial syndromes characterized by a predominance of non-thyroidal tumors, such as familial adenomatous polyposis (FAP), PTEN-hamartoma tumor syndrome (Cowden disease; PHTS), Carney complex, Werner syndrome, and Pendred syndrome. The second group includes familial syndromes characterized by predominance of papillary thyroid carcinoma (PTC), such as pure fPTC, fPTC associated with papillary renal cell carcinoma, and fPTC with multinodular goiter. Most of the progress in the genetics of familial thyroid cancer has been in patients with MTC. This is usually a component of multiple endocrine neoplasias IIA or IIB, or as pure familial medullary thyroid carcinoma syndrome. The genetic events in the familial C-cell-derived tumors are known and genotype-phenotype correlations are well established. The mutations in patients with isolated NMFTC have not been as well defined as in MTC. In many cases, patients have a known familial syndrome that has defined risk for thyroid cancer. The clinician must be knowledgeable in recognizing the possibility of an underlying familial syndrome when a patient presents with thyroid cancer. Some characteristic thyroid morphologic findings should alert the pathologist of a possible familial cancer syndrome, which may lead to further molecular genetics evaluation.

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Familial thyroid cancer: a review

Cited by 158 publications

References 75 publications

Risk of thyroid cancer in relatives of patients with medullary thyroid carcinoma by age at diagnosis

Risk of thyroid cancer in relatives of patients with medullary thyroid carcinoma by age at diagnosis

Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries

Familial Follicular Cell Tumors: Classification and Morphological Characteristics

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