title: Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.
abstract: We describe a patient with a severe juvenile polyposis phenotype, due to a de novo deletion of chromosome 10q22.3-q24.1. He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps. He then re-presented at 23 years with recurrent hematochezia from juvenile polyps in his ileoanal pouch. He is one of the earliest reported cases of JPS associated with a large deletion of chromosome 10. Since his initial diagnosis of JPS further studies have confirmed an association between JPS and mutations in BMPR1A in chromosome band 10q23.2, which is in close proximity to PTEN. Mutations in PTEN cause Cowden syndrome (CS) and other PTEN hamartoma tumor syndromes. Due to the chromosome 10 deletion involving contiguous portions of BMPR1A and PTEN in our patient, he may be at risk for CS associated cancers and features, in addition to the polyps associated with JPS. This case presents new challenges in developing appropriate surveillance algorithms to account for the risks associated with each syndrome and highlights the importance of longitudinal follow-up and transitional care between pediatric and adult gastroenterology for patients with hereditary polyposis syndromes.
authors.affiliation: Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Adebisi
authors.initials: A
authors.lastname: Alimi
authors.affiliation: Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Lauren A
authors.initials: LA
authors.lastname: Weeth-Feinstein
authors.affiliation: Department of Oncology Genetics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Amy
authors.initials: A
authors.lastname: Stettner
authors.affiliation: Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.|Division of Gastroenterology and Hepatology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Freddy
authors.initials: F
authors.lastname: Caldera
authors.affiliation: Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.|Division of Gastroenterology and Hepatology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.|University of Wisconsin Carbone Cancer Center, Madison, Wisconsin.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Weiss
mesh_terms: D052005:Bone Morphogenetic Protein Receptors, Type I / Q000172:deficiency / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D006471:Gastrointestinal Hemorrhage / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D015870:Gene Expression; D005838:Genotype; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D008297:Male; D008991:Monitoring, Physiologic; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D051059:PTEN Phosphohydrolase / Q000172:deficiency / Q000235:genetics*; D010641:Phenotype; D055815:Young Adult
chemical_list: C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: gastroenterology; hamartoma syndrome; intestinal polyposis; multiple; pediatrics
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