TY - JOUR
T1 - Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation
AU - Cooiman, Mellody I.
AU - Kleinendorst, Lotte
AU - van der Zwaag, Bert
AU - Janssen, Ignace M. C.
AU - Berends, Frits J.
AU - van Haelst, Mieke M.
PY - 2019/6/1
Y1 - 2019/6/1
N2 - Background: Pathogenic PTEN gene mutations are known to cause PTEN tumor hamartoma syndrome. Recent studies also suggest a role for PTEN mutations in the pathogenesis of obesity. No PTEN mutations have been reported among bariatric surgery patients and obesity treatment results are unknown. Since preventive screening for associated tumors is offered to patients with molecular proven PTEN hamartoma tumor syndrome, recognition of this condition in the bariatric surgery clinic is important. Method: We present a patient with morbid obesity who carries a known pathogenic PTEN mutation, identified at the bariatric surgery clinic using an obesity gene panel consisting of 52 obesity–associated genes. We analyzed the weight loss response during the first 3 years after Sleeve Gastrectomy. Results: At 1, 2 and 3 years after surgery, the patient achieved a Total Body Weight Loss of 39.4%, 48.8% and 44.9%, respectively. This corresponds to the results of a control group of 18 female patients with normal genetic test results. Conclusion: Our patient illustrates the importance of recognizing this serious genetic condition for which preventive cancer screening options are available. The positive weight loss results after Sleeve Gastrectomy suggest that this could be a successful treatment option for obesity patients with PTEN mutations.
AB - Background: Pathogenic PTEN gene mutations are known to cause PTEN tumor hamartoma syndrome. Recent studies also suggest a role for PTEN mutations in the pathogenesis of obesity. No PTEN mutations have been reported among bariatric surgery patients and obesity treatment results are unknown. Since preventive screening for associated tumors is offered to patients with molecular proven PTEN hamartoma tumor syndrome, recognition of this condition in the bariatric surgery clinic is important. Method: We present a patient with morbid obesity who carries a known pathogenic PTEN mutation, identified at the bariatric surgery clinic using an obesity gene panel consisting of 52 obesity–associated genes. We analyzed the weight loss response during the first 3 years after Sleeve Gastrectomy. Results: At 1, 2 and 3 years after surgery, the patient achieved a Total Body Weight Loss of 39.4%, 48.8% and 44.9%, respectively. This corresponds to the results of a control group of 18 female patients with normal genetic test results. Conclusion: Our patient illustrates the importance of recognizing this serious genetic condition for which preventive cancer screening options are available. The positive weight loss results after Sleeve Gastrectomy suggest that this could be a successful treatment option for obesity patients with PTEN mutations.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85067311285&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31055886
U2 - https://doi.org/10.1002/mgg3.632
DO - https://doi.org/10.1002/mgg3.632
M3 - Article
C2 - 31055886
SN - 2324-9269
VL - 7
JO - Molecular genetics and genomic medicine
JF - Molecular genetics and genomic medicine
IS - 6
M1 - e00632
ER -