, possibly related to treatmentof pleuropulmonary blastoma)PTENhamartoma tumor syndrome(Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome,PTEN-related Proteus syndrome,and Proteus-likesyndrome)PTEN(10q23)Multinodular goiterFollicular adenomasDTC (FTC overrepresented)Werner syndromeWRN(8p12)DTC (PTC and FTC)aAlthough DTC has also been reported to occur in patients with Beckwith–Wiedemann syndrome
Toward Systems Pathology for PTEN Diagnostics. Germline alterations of the tumor suppressor PTEN have been extensively characterized in patients with PTEN hamartoma tumor syndromes, encompassing subsets of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-likesyndromes, as well as autism spectrum disorder. Studies have shown an increase in the risk of developing specific
overgrowth syndromes, namely Cowden, Bannayan-Riley-Ruvalcaba, Proteus and Proteus-likesyndromes. Relatedly, mutations in other genes encoding components of the PI3K/AKT/mTOR pathway downstream of PTEN also predispose patients to partially overlapping clinical manifestations, with similar effects as PTEN malfunction. We refer to these syndromes as '-opathies.' As a tumor suppressor and key regulator
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis Phosphatase and tensin homolog (PTEN) is the protein encoded by the gene (10q23.3). mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-likesyndrome. These diseases
-Riley-Ruvulcaba syndrome (BRRS), Proteus syndrome, and Proteus-likesyndrome, which all have PTEN mutations.Cowden disease (multiple hamartoma syndrome) causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, CNS, eyes, and genitourinary tract. Skin is involved in 90-100% of cases, and the thyroid is involved in 66% of cases.Mucocutaneous features of Cowden disease (multiple hamartoma
and overgrowth of tissues.While PTEN was previously thought to be implicated in this disorder, this is no longer thought to be the case. Patients with PTEN mutation are now thought to have Proteus-likesyndrome. [7, 8] Previous Next: EtiologyProteus syndrome is a rare, sporadic disease with patchy or mosaic manifestations. In 2011, the New England Journal of Medicine published a paper by Lindhurst et al naming leads to lack of apoptosis and overgrowth of tissues.While PTEN was previously thought to be implicated in this disorder, this is no longer thought to be the case. Patients with PTEN mutation are now thought to have Proteus-likesyndrome. [7, 8] Previous Next: EpidemiologyFrequencyAround 100 cases have been reported in the literature. [10] RaceProteus syndrome has no predilection for any particular
-Riley-Ruvulcaba syndrome (BRRS), Proteus syndrome, and Proteus-likesyndrome, which all have PTEN mutations.Cowden disease (multiple hamartoma syndrome) causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, CNS, eyes, and genitourinary tract. Skin is involved in 90-100% of cases, and the thyroid is involved in 66% of cases.Mucocutaneous features of Cowden disease (multiple hamartoma
and overgrowth of tissues.While PTEN was previously thought to be implicated in this disorder, this is no longer thought to be the case. Patients with PTEN mutation are now thought to have Proteus-likesyndrome. [7, 8] Previous Next: EtiologyProteus syndrome is a rare, sporadic disease with patchy or mosaic manifestations. In 2011, the New England Journal of Medicine published a paper by Lindhurst et al naming leads to lack of apoptosis and overgrowth of tissues.While PTEN was previously thought to be implicated in this disorder, this is no longer thought to be the case. Patients with PTEN mutation are now thought to have Proteus-likesyndrome. [7, 8] Previous Next: EpidemiologyFrequencyAround 100 cases have been reported in the literature. [10] RaceProteus syndrome has no predilection for any particular
, narrative reviews, comments, guidelines, conference abstracts, expert opinions, unpublished data will be excluded.Condition or domain being studiedBannayan-Riley-Ruvalcaba syndromeParticipants/populationInclusion: Pediatric patients (0-18 y.o.) with Bannayan-Riley-Ruvalcaba syndrome.Exclusion: Any age patients with other PTHS syndrome (Cowden syndrome, Proteus syndrome, Proteus–likesyndrome).Intervention
that are jointly referred to as the "PTEN hamartoma tumor syndrome" (PHTS) and include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-likesyndrome. Germline PTEN mutations have been identified in a significant proportion of patients with PHTS; however, there are still many individuals with classic diagnostic features for whom mutations have yet to be identified. To address
criteria (asymmetric disproportionate overgrowth, linear epidermal nevus, specific tumors before the 2nd decade) or 3 category C criteria (vascular malformations, dysregulated adipose tissue, distinct facial phenotype). If these criteria are not met then a patient may be diagnosed with Proteus-likesyndrome (see this term). Molecular genetic testing may confirm diagnosis.Differential
Thyroid Pathology in PTEN-Hamartoma Tumor Syndrome: Characteristic Findings of a Distinct Entity. Phosphatase and tensin homolog deleted on chromosome ten (PTEN)-hamartoma tumor syndrome (PHTS) is a complex disorder caused by germline inactivating mutations of the PTEN tumor suppressor gene. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus-likesyndromes
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor syndromes, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus -likesyndromes. Recently, PTEN
syndrome (BRRS), and Proteus and Proteus-likesyndromes. Since considerable phenotypic overlap exists among these allelic conditions, the term PTEN hamartoma tumor syndrome (PHTS) has been adopted to describe the group of conditions as a whole. Due to the association of PTEN with overgrowth and neurobehavioral manifestations, recent research has focused on autism/ASD