Abstract

PTEN hamartoma tumor syndromes (PHTS) are a spectrum ofhamartomatous overgrowth syndromes associated with germlinemutations in the tumor suppressor PTEN gene located on10q23.3. It is widely accepted that two of these disorders,Cowdensyndrome and Bannayan–Riley–Ruvalcaba syndrome, are allelicconditions. BecausePTENmutations are not identifiable in everycase of the PHTS phenotype, the inability to detect a mutationwithin thePTENgene does not invalidate the clinical diagnosis ofCowden syndrome, or Bannayan–Riley–Ruvalcaba syndrome, inpatients who meet diagnostic criteria for these disorders. PTENmutations are associated with an increased risk for developingbreast, thyroid, endometrial, and sometimes renal cancers. Thus,cancer surveillance is the cornerstone of PHTS patient management.Although a consensus cancer surveillance protocol has notbeen formally instituted, all PTEN mutation carriers shouldadopt the cancer surveillance strategies proposed for patientswith Cowden syndrome. In addition, because gastrointestinaland vascular complications can be more severe in Bannayan–Riley–Ruvalcaba syndrome than in Cowden syndrome, patientswith Bannayan–Riley–Ruvalcaba syndrome should be monitoredfrom this point of view too. In this study, we report ontwo cases with Bannayan–Riley–Ruvalcaba phenotype thatshowed two different PTEN mutations.Wealso propose practicerecommendations for management of PHTS patients
Lingua originaleEnglish
pagine (da-a)2902-2908
Numero di pagine7
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume161A
Stato di pubblicazionePublished - 2013

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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