CORRESPONDENCE
Correspondence Regarding: PTEN Hamartoma Tumor Syndromes in Childhood: Description of Two Cases and a Proposal for Follow-Up Protocol Peter P. Stanich,1* Marty M. Meyer,1 and Robert Pilarski2 1
Division of Gastroenterology, Hepatology and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio
2
Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, Ohio
Manuscript Received: 4 November 2013; Manuscript Accepted: 14 February 2014
How to Cite this Article:
TO THE EDITOR: We read with great interest the recent case series and clinical management recommendations for PTEN hamartoma tumor syndrome (PHTS) by Piccione et al. [2013]. In their suggested followup protocol, they recommend biannual (twice yearly) colonoscopy beginning at age 40 years or earlier depending on family history. This is carried forward from a recent study by Tan et al. [2012], which reported an age-adjusted standardized incidence ratio (SIR) of 10.3 (95% confidence interval [CI] 5.6–17.4) for colorectal cancer in PHTS. Although we agree that colon cancer surveillance in indicated in this patient population, we question the need for twice yearly colonoscopy. For comparison, the current recommendations are yearly or biennial (every other year) colonoscopy in patients with Lynch syndrome, which has a reported colorectal cancer SIR of 68 (95% CI 56–81) [Aarnio et al., 1999]. Colonoscopy is an invasive procedure with accompanying intrinsic risks and serious complications, such as bleeding requiring hospitalization or perforation, can occur in up to 7 per 1,000 patients when biopsy or polypectomy is performed [Levin et al., 2006]. Perhaps most importantly, it is unlikely patients would comply with recommendations to complete adequate bowel preparation and undergo sedation and the procedure every 6 months indefinitely. Colonoscopy is a beneficial tool for colorectal cancer surveillance and should be performed in patients with PHTS, but the benefit gained by frequently repeating the procedure needs to be balanced with the known risks. We agree with initiating colonoscopy at 35–40 years of age, but would hesitate to broadly recommend surveillance more frequently than every 1–2 years. Given the complexity of PHTS, colorectal cancer surveillance protocols need to be individ-
Stanich PP, Meyer MM, Pilarski R. 2014. Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol. Am J Med Genet Part A 9999:1–1.
ualized to the patient’s clinical scenario after an informed discussion between the patient and a multi-disciplinary team of physicians, including gastroenterologists, and genetic counselors.
REFERENCES Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ. 1999. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218. Levin TR, Zhao W, Conell C, Seeff LC, Manninen DL, Shapiro JA, Schulman J. 2006. Complications of colonoscopy in an integrated health care delivery system. Ann Intern Med 145:880–886. Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G. 2013. PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol. Am J Med Genet Part A 161:2902–2908. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. 2012. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18:400–407.
Conflict of interest: none. Correspondence to: Peter P. Stanich, M.D., The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Second Floor, Columbus, OH 43210. E-mail: [email protected] Article first published online in Wiley Online Library (wileyonlinelibrary.com): 00 Month 2014 DOI 10.1002/ajmg.a.36528
Ó 2014 Wiley Periodicals, Inc.
1
Correspondence Regarding: PTEN Hamartoma Tumor Syndromes in Childhood: Description of Two Cases and a Proposal for Follow-Up Protocol Peter P. Stanich,1* Marty M. Meyer,1 and Robert Pilarski2 1
Division of Gastroenterology, Hepatology and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio
2
Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, Ohio
Manuscript Received: 4 November 2013; Manuscript Accepted: 14 February 2014
How to Cite this Article:
TO THE EDITOR: We read with great interest the recent case series and clinical management recommendations for PTEN hamartoma tumor syndrome (PHTS) by Piccione et al. [2013]. In their suggested followup protocol, they recommend biannual (twice yearly) colonoscopy beginning at age 40 years or earlier depending on family history. This is carried forward from a recent study by Tan et al. [2012], which reported an age-adjusted standardized incidence ratio (SIR) of 10.3 (95% confidence interval [CI] 5.6–17.4) for colorectal cancer in PHTS. Although we agree that colon cancer surveillance in indicated in this patient population, we question the need for twice yearly colonoscopy. For comparison, the current recommendations are yearly or biennial (every other year) colonoscopy in patients with Lynch syndrome, which has a reported colorectal cancer SIR of 68 (95% CI 56–81) [Aarnio et al., 1999]. Colonoscopy is an invasive procedure with accompanying intrinsic risks and serious complications, such as bleeding requiring hospitalization or perforation, can occur in up to 7 per 1,000 patients when biopsy or polypectomy is performed [Levin et al., 2006]. Perhaps most importantly, it is unlikely patients would comply with recommendations to complete adequate bowel preparation and undergo sedation and the procedure every 6 months indefinitely. Colonoscopy is a beneficial tool for colorectal cancer surveillance and should be performed in patients with PHTS, but the benefit gained by frequently repeating the procedure needs to be balanced with the known risks. We agree with initiating colonoscopy at 35–40 years of age, but would hesitate to broadly recommend surveillance more frequently than every 1–2 years. Given the complexity of PHTS, colorectal cancer surveillance protocols need to be individ-
Stanich PP, Meyer MM, Pilarski R. 2014. Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol. Am J Med Genet Part A 9999:1–1.
ualized to the patient’s clinical scenario after an informed discussion between the patient and a multi-disciplinary team of physicians, including gastroenterologists, and genetic counselors.
REFERENCES Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ. 1999. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218. Levin TR, Zhao W, Conell C, Seeff LC, Manninen DL, Shapiro JA, Schulman J. 2006. Complications of colonoscopy in an integrated health care delivery system. Ann Intern Med 145:880–886. Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G. 2013. PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol. Am J Med Genet Part A 161:2902–2908. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. 2012. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18:400–407.
Conflict of interest: none. Correspondence to: Peter P. Stanich, M.D., The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Second Floor, Columbus, OH 43210. E-mail: [email protected] Article first published online in Wiley Online Library (wileyonlinelibrary.com): 00 Month 2014 DOI 10.1002/ajmg.a.36528
Ó 2014 Wiley Periodicals, Inc.
1
