Bannayan‐Riley‐Ruvalcaba syndrome

Gorlin, Robert J.; Cohen, Michael; Condon, Lawrence M.; Burke, Barbara A.

doi:10.1002/ajmg.1320440309

Cited by 277 publications

(176 citation statements)

References 68 publications

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“…Both patients came to our attention for clinical features suggestive of BRRS such as macrocephaly, developmental delay, and subcutaneous lipomatosis. Macrocephaly with normal ventricular size has been the most consistent finding in BRRS in several reviews [MorettiFerreira et al, 1989;Gorlin et al, 1992]. It is noteworthy that macrocephaly is usually present from birth and persists into adulthood [DiLiberti, 1998].…”

Section: Discussionmentioning

confidence: 89%

“…The molecular basis of CS in the remaining cases has yet to be determined. BRRS is a rare congenital syndrome characterized by macrocephaly, multiple hemangiomas, and lipomas (subcutaneous and/or visceral), gastrointestinal hamartomatous polyps, neurologic manifestations (autism or cognitive and motor developmental delay), and hyperpigmented macules on the skin of the shaft and glans penis [Gorlin et al, 1992]. Common features include hypotonia associated with a lipid storage myopathy [DiLiberti et al, 1984] and thyroid abnormalities such as Hashimoto's thyroiditis [Gorlin et al, 1992].…”

Section: Introductionmentioning

confidence: 99%

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PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

Piccione

Fragapane

Antona

et al. 2013

American J of Med Genetics Pt A

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PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ‐line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan–Riley–Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, endometrial, and sometimes renal cancers. Thus, cancer surveillance is the cornerstone of PHTS patient management. Although a consensus cancer surveillance protocol has not been formally instituted, all PTEN mutation carriers should adopt the cancer surveillance strategies proposed for patients with Cowden syndrome. In addition, because gastrointestinal and vascular complications can be more severe in Bannayan–Riley–Ruvalcaba syndrome than in Cowden syndrome, patients with Bannayan–Riley–Ruvalcaba syndrome should be monitored from this point of view too. In this study, we report on two cases with Bannayan–Riley–Ruvalcaba phenotype that showed two different PTEN mutations. We also propose practice recommendations for management of PHTS patients. © 2013 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

Piccione

Fragapane

Antona

et al. 2013

American J of Med Genetics Pt A

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“…For purposes of clinical care, therefore, operational diagnostic criteria for CS have been developed which include macrocephaly as a major feature; 6 macrocephaly has also long been recognised as a hallmark characteristic of BRRS. 7,8 However, the true prevalence of macrocephaly is uncertain. A population-based study in Amsterdam including a review of the literature at that time cited a weighted prevalence of 21%, 2 whereas two other retrospective studies from tertiary referral centers found macrocephaly in 100% of patients studied.…”

Section: Introductionmentioning

confidence: 99%

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

et al. 2011

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PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene. Although macrocephaly, presumably due to megencephaly, is found in both CS and BRRS, the prevalence and degree have not been formally assessed in PHTS. We evaluated head size in a prospective nested series of 181 patients found to have pathogenic germline PTEN mutations. Clinical data including occipital-frontal circumference (OFC) measurement were requested for all participants. Macrocephaly was present in 94% of 161 evaluable PHTS individuals. In patients r18 years, mean OFC was +4.89 standard deviations (SD) above the population mean with no difference between genders (P¼0.7). Among patients 418 years, average OFC was 60.0 cm in females and 62.8 cm in males (Po0.0001). To systematically determine whether macrocephaly was due to megencephaly, we examined Pten M3M4 missense mutant mice generated and maintained on mixed backgrounds. Mice were killed at various ages, brains were dissected out and weighed. Average brain weight for Pten M3M4 homozygous mice (N¼15) was 1.02 g compared with 0.57 g for heterozygous mice (N¼29) and 0.49 g for wild-type littermates (N¼24) (Po0.0001). Macrocephaly, secondary to megencephaly, is an important component of PHTS and more prevalent than previously appreciated. Patients with PHTS have increased risks for breast and thyroid cancers, and early diagnosis is key to initiating timely screening to reduce patient morbidity and mortality. Clinicians should consider germline PTEN testing at an early point in the diagnostic work-up for patients with extreme macrocephaly.

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“…7,8 Germline PTEN mutations are also associated with 65% of patients with Bannayan-Riley-Ravalcaba Syndrome, which is characterized by macrocephaly, lipomatosis, hemangiomatosis and speckled penis. 4,9 Somatic alterations in PTEN, whether by genetic or epigenetic mechanisms, play some role in the pathogenesis of a broad range of solid tumors, such as carcinomas of the breast, thyroid, endometrium and colon. 10 PTEN's protein product, PTEN, is a dual specificity phosphatase with both lipid and protein phosphatase activity.…”

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confidence: 99%

Increased PTEN expression due to transcriptional activation of PPARγ by Lovastatin and Rosiglitazone

Teresi

Shaiu

Chen

et al. 2006

Intl Journal of Cancer

107

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Germline mutations in the tumor suppressor gene PTEN (protein phosphatase and tensin homolog located on chromosome ten) predispose to heritable breast cancer. The transcription factor PPARc has also been implicated as a tumor suppressor pertinent to a range of neoplasias, including breast cancer. A putative PPARc binding site in the PTEN promoter indicates that PPARc may regulate PTEN expression. We show here that the PPARc agonist Rosiglitazone, along with Lovastatin, induce PTEN in a dose-and time-dependent manner. Lovastatin-or Rosiglitazoneinduced PTEN expression was accompanied by a decrease in phosphorylated-AKT and phosphorylated-MAPK and an increase in G1 arrest. We demonstrate that the mechanism of Lovastatin-and Rosiglitazone-associated PTEN expression was a result of an increase in PTEN mRNA, suggesting that this increase was transcriptionally-mediated. Compound-66, an inactive form of Rosiglitazone, which is incapable of activating PPARc, was unable to elicit the same response as Rosiglitazone, signifying that the Rosiglitazone response is PPARc-mediated. To support this, we show, using reporter assays including dominant-negative constructs of PPARc, that both Lovastatin and Rosiglitazone specifically mediate PPARc activation. Additionally, we demonstrated that cells lacking PTEN or PPARc were unable to induce PTEN mediated cellular events in the presence of Lovastatin or Rosiglitazone. These data are the first to demonstrate that Lovastatin can signal through PPARc and directly demonstrate that PPARc can upregulate PTEN at the transcriptional level. Since PTEN is constitutively active, our data indicates it may be worthwhile to examine Rosiglitazone and Lovastatin stimulation as mechanisms to increase PTEN expression for therapeutic and preventative strategies including cancer, diabetes mellitus and cardiovascular disease. ' 2006 Wiley-Liss, Inc.

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Bannayan‐Riley‐Ruvalcaba syndrome

Cited by 277 publications

References 68 publications

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

Increased PTEN expression due to transcriptional activation of PPARγ by Lovastatin and Rosiglitazone

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