Thyroid Pathology Findings in Cowden Syndrome

Cameselle-Teijeiro, José; Fachal, C.; Cabezas-Agrícola, José Manuel; Alfonsín-Barreiro, Natividad; Abdulkader, Ihab; Vega-Gliemmo, Ana; Hermo, José Antonio

doi:10.1309/ajcp84ingjuvtbme

Cited by 34 publications

(17 citation statements)

References 24 publications

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“…The main histological subtypes are papillary carcinoma (classical and follicular variants) and follicular carcinoma, with a potentially higher prevalence of the latter compared with sporadic forms (14-45% vs. 2%) (188)(189)(190). These cancers are often associated with specific pathological features such as multiple adenomatous nodules in the context of lymphocytic thyroiditis (190).…”

Section: Cowden Syndromementioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

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Section: Cowden Syndromementioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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“…PTEN Hamartoma syndrome (PHTS) includes a spectrum of disorders that arise from mutation in the PTEN tumor suppressor gene.16 This can cause a wide variety of tumors, including thyroid adenoma, hamartoma, and an intramuscular lesion with unique properties [17]. One study looked at thirty-four patients with known or suspected PHTS who underwent histopathological study of these unencapsulated, often nodular, masses.…”

Section: Discussionmentioning

confidence: 99%

A rare presentation: A case report of osseous metaplasia and mature bone formation in a follicular adenoma of the thyroid

Aurora

Hashmi

Misra

et al. 2017

International Journal of Surgery Case Reports

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HighlightsOsseous metaplasia and bone formation may be seen in a broad spectrum of diseases involving the thyroid gland especially in malignant neoplasms of the thyroid gland.However, this differentiation is not unique to malignant neoplasms. It may also be encountered in follicular adenomas of the thyroid.Awareness of thyroid nodules undergoing hemorrhagic, cystic, and fibrotic changes, as well as calcification and ossification is paramount in proper diagnosis and treatment of these pathologies.Particularly, patient’s history, associated risk factors and clinical presentation are the most important factors to consider in clinical differentiation of malignant and benign diagnoses.All ossifications in a thyroid nodule should be considered suspicious for malignancy until proven otherwise.

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“…PTEN encodes a dual specificity phosphatase, involved in the phosphatidylinositol 3-kinase pathway. In germline PTEN carriers, abnormal thyroid gland pathology is reported in 75% of patients, whereas thyroid cancer is in 14-24% (Ngeow et al 2011, Cameselle-Teijeiro et al 2015. Multifocality, bilaterality and pathological findings in thyroid tumour specimens such as the presence of adenomatous nodules, microadenomas, a background of lymphocytic thyroiditis and PTEN-negative immunostaining are clues for PHTS.…”

Section: Pten Hamartoma Tumour Syndromementioning

confidence: 99%

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents

Goudie

Hannah‐Shmouni

Kavak

et al. 2018

Endocrine-Related Cancer

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As medicine is poised to be transformed by incorporating genetic data in its daily practice, it is essential that clinicians familiarise themselves with the information that is now available from more than 50 years of genetic discoveries that continue unabated and increase by the day. Endocrinology has always stood at the forefront of what is called today 'precision medicine': genetic disorders of the pituitary and the adrenal glands were among the first to be molecularly elucidated in the 1980s. The discovery of two endocrine-related genes, and, both identified in the late 1980s, contributed greatly in the understanding of cancer and its progression. The use of mutation testing for the management of medullary thyroid cancer was among the first and one of most successful applications of genetics in informing clinical decisions in an individualised manner, in this case by preventing cancer or guiding the choice of tyrosine kinase inhibitors in cancer treatment. New information emerges every day in the genetics or system biology of endocrine disorders. This review goes over most of these discoveries and the known endocrine tumour syndromes. We cover key genetic developments for each disease and provide information that can be used by the clinician in daily practice.

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Thyroid Pathology Findings in Cowden Syndrome

Abstract: Objectives: PTEN hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations of the PTEN gene. PHTS includes

Cited by 34 publications

References 24 publications

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

A rare presentation: A case report of osseous metaplasia and mature bone formation in a follicular adenoma of the thyroid

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents

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