Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol

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Abstract

The follow-up protocol, which we describe in this study can serve as a practical proposal for clinicians, and as a basis for future studies. We strongly urge the clinician to start an early surveillance of the gastrointestinal tract including regular endoscopy. The main management goals in PHTS patients are to detect colon cancer early, and to prevent polyp-related complications (bowel obstruction from intussusception). The presence of multiple nonmalignant polyps in patients with PTEN mutations may complicate noninvasive methods of colon evaluation [Tan et al., 2012]. In addition, there is a high variability in severity of polyps progression, and the malignant potential of these lesions is not well characterized. More frequent colonoscopy should be considered for patients with a heavy polyp burden [Tan et al., 2012]. Some patients may require more frequent endoscopy if they show an accelerated rate of polyps development [Septer et al., 2013]. It is clear that an appropriate surveillance plan is influenced by the patient's endoscopic and histologic findings, as well as the personal medical and family history features, and physical manifestations. Nevertheless, further prospective studies are needed to assess the timing and the appropriateness of colorectal cancer screening in these patients.
Original languageEnglish
Pages (from-to)1871-1871
Number of pages1
JournalAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume164
Publication statusPublished - 2014

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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