Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

Stratakis, Constantine A.

doi:10.1007/s11154-016-9401-0

Cited by 21 publications

(18 citation statements)

References 67 publications

(103 reference statements)

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“…Most thyroid lesions occurring in CS are of follicular origin. Morphologically, those follicular lesions are multicentric, are bilateral, and share a spectrum varying from benign to malignant thyroid neoplasms …”

Section: Pten‐hamartoma Tumour Syndrome (Phts)/csmentioning

confidence: 99%

Hereditary and familial thyroid tumours

Guilmette

Nosé

2017

Histopathology

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The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Hereditary thyroid neoplasms arising from calcitonin‐producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well‐documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome. Familial thyroid cancers arising from follicular cells are referred to as familial non‐medullary thyroid carcinoma (FNMTC), or familial follicular cell‐derived carcinoma. Clinicopathological correlations have resulted in the further subclassification of FNMTCs into two groups. Among the first group are found syndromes characterised by a predominance of non‐thyroidal tumours, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and Pendred syndrome. The second group encompasses a spectrum of familial syndromes characterised by a predominance of non‐medullary thyroid tumours, such as pure familial papillary thyroid carcinoma with or without oxyphilia, familial papillary thyroid carcinoma with papillary renal cell carcinoma, and familial papillary carcinoma with multinodular goitre. Most familial thyroid cancers have been described as being more aggressive than sporadic thyroid cancers, with a predisposition for lymph node metastasis, extrathyroidal invasion, and a younger age of onset. The distinct thyroid pathology in some of these syndromes should alert the pathologist to a possible familial cancer syndrome.

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Section: Pten‐hamartoma Tumour Syndrome (Phts)/csmentioning

confidence: 99%

Hereditary and familial thyroid tumours

Guilmette

Nosé

2017

Histopathology

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“…Hence, fine-needle aspiration is indicated for patients with thyroid nodules. Regardless of the previous pathologies, most CNC patients are euthyroid [ 8 ]. Our patient presented with a nodule and was diagnosed with hyperthyroidism which is uncommon.…”

Section: Discussionmentioning

confidence: 99%

Carney Complex: A Rare Case of Multicentric Cardiac Myxoma Associated with Endocrinopathy

Saleh

Hammad

Abdelkarim

et al. 2018

Case Reports in Cardiology

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Carney complex is a rare autosomal dominant disorder characterized by multiple tumors, including cardiac and extracardiac myxomas, skin lesions, and various endocrine disorders. We are reporting a 21-year-old female patient with past surgical history significant for excision of a cutaneous myxoma who presented with multicentric cardiac myxomas involving the four cardiac chambers. She also presented with endocrinal disorders in the form of an enlarged right lobe of the thyroid, hyperthyroid state, and an incidentally noted adrenal cyst; hence, she was diagnosed with carney complex syndrome.

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“…Not only mutations but also metabolic dysregulations and chronic inflammation can lead to the development of skin and other tumors. In a further review, Stratakis [16] reports on Peutz-Jeghers syndrome, Carney complex, Cowden disease, neurofibromatosis type-1 and tuberous sclerosis as multiple endocrine neoplasias (MEN), since they predispose to a variety of endocrine tumors and characteristic skin manifestations [16].…”

Section: Metabolic Diseases and Skin Tumorsmentioning

confidence: 99%