Thyroid Pathology in<i>PTEN</i>-Hamartoma Tumor Syndrome: Characteristic Findings of a Distinct Entity

Laury, Anna; Bongiovanni, Massimo; Tille, Jean-Christophe; Kozakewich, Harry P.; Nosé, Vânia

doi:10.1089/thy.2010.0226

Cited by 96 publications

(69 citation statements)

References 45 publications

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“…The progression of skin hamartoma in Pten D mice was evaluated according to the pathological criteria of PHTS as described in previous studies (Supplemental Fig. 1B; Nelen et al 1996;Eng 2000;Laury et al 2011). The median onset of disease in Pten D mice was 62 d (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…The progression of mucocutaneous lesions in mice was monitored according to the operational diagnosis criteria of PHTS (Nelen et al 1996;Eng 2000;Laury et al 2011). The facial papillomatous, acral keratoses, and palmoplanta keratoses (limbs and paws) were each graded from 0 (normal) to 4 (severe), and a summed score was calculated accordingly.…”

Section: Phts Severity Scorementioning

confidence: 99%

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Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome

et al. 2013

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PTEN hamartoma tumor syndrome (PHTS) comprises a collection of genetic disorders associated with germline mutations in the tumor suppressor gene PTEN. Therapeutic options and preventative measures for PHTS are limited. Using both genetically engineered mouse models and pharmacological PI3K isoform-selective inhibitors, we found that the roles of PI3K isoforms are spatially distinct in the skin: While p110a is responsible for the sustained survival of suprabasal cells of the epidermis in the absence of PTEN, p110b is important for the hyperproliferation of basal cells in PHTS. Furthermore, we identified a differential expression pattern of p110a and p110b in basal and suprabasal keratinocytes as well as differential PI3K regulation by upstream signals in the basal and suprabasal compartments of the epidermis, providing a potential molecular mechanism underlying the specific roles of PI3K isoforms in the epidermis. Finally, we demonstrate that combined inhibition of both PI3K isoforms prevents the development of PHTS and also reverses skin hamartomas that have reached advanced stages in mice. Together, these results not only advance our overall understanding of the diverse roles of PI3K isoforms, but also have the potential for meaningful translation via the clinical utilization of PI3K inhibitors for both prevention and therapy in PHTS patients.

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Section: Resultsmentioning

confidence: 99%

Section: Phts Severity Scorementioning

confidence: 99%

Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome

et al. 2013

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“…Thyroid pathologic findings in this syndrome typically affect follicular cells. 50,51 Follicular carcinoma, with a frequency of 5-10%, is a major diagnostic criterion for the diagnosis of CS; multinodular goiter (nodular hyperplasia), multiple adenomatous nodules, and follicular adenomas are minor criteria, with a frequency of 50-67%.…”

Section: Pten-hamartoma Tumor Syndromementioning

confidence: 99%

“…The majority of thyroid lesions occurring in PHTS are follicular carcinoma; PTC is rarely been associated with this entity. 50,53 The occurrence of papillary microcarcinoma in CS is usually considered to be a chance occurrence as such tumors may be present in up to 30% of the adult population. 50 MTC is not considered as a part of the spectrum of PHTS; however, previous studies, including studies conduct by us 50,53 and others, 51 have identified CCH in individuals affected with this syndrome.…”

Section: Pten-hamartoma Tumor Syndromementioning

confidence: 99%

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Familial thyroid cancer: a review

2011

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Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis

Wang

Moore

Bao

2022

American J of Med Genetics Pt A

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PTEN hamartoma tumor syndrome (PHTS) is a rare genetic cancer and tumor predisposition syndrome. Due to the wide spectrum of clinical manifestations and variable age at onset, the pathways leading to a PHTS diagnosis are difficult and highly variable. Many patients were found to have PHTS after a cancer diagnosis, missing the opportunity of prevention or enhanced cancer screening. This retrospective study evaluated a PHTS cohort followed in a high-risk surveillance clinic in a comprehensive cancer institution. A significant portion of the patients (60.9%, 14/23) had at least one cancer diagnosis (average age 34.6 years at diagnosis). A significant portion (78.3%, 18/23) were affected with clinically significant goiters (age 27.9 years), and many (60.9%, 14/23) had partial or total thyroidectomy (age 27.1 years). The average age at goiter diagnosis or thyroidectomy is younger than a cancer diagnosis. In 12 individuals who were affected with clinically significant goiter and cancer, all cancers were diagnosed after the thyroid disease (6.3 years). As clinically significant thyroid nodules in childhood or early young adulthood are common in PHTS, but uncommon for general population, these early onset thyroid nodules may alert the clinician to initiate PHTS-targeted evaluation and genetic testing.

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Thyroid Pathology inPTEN-Hamartoma Tumor Syndrome: Characteristic Findings of a Distinct Entity

Cited by 96 publications

References 45 publications

Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome

Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome

Familial thyroid cancer: a review

Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis

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