title: Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
abstract: It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. PHP1b is the result of resistance to PTH in certain end-organ tissues, especially the kidney; the response in bone is unaffected because it normally expresses stimulatory G protein equally from both parental alleles. A 21-year-old male, presenting with gum swelling at the right mandible, was referred to a dental clinic. A curative surgical resection by segmental mandibulectomy was performed and the pathologic findings of the mass were consistent with osteoblastic osteosarcoma. His laboratory results showed a low calcium level despite high PTH, and he did not have any features of Albright hereditary osteodystrophy; therefore, PHP1b was suspected. Multiplex ligation-dependent probe amplification and microsatellite marker analyses of chromosome 20 confirmed the diagnosis and identified paternal uniparental disomy of chromosome 20q (patUPD20). To the best of our knowledge, this is the first report of osteosarcoma in a patient with PHP1b due to patUPD20. © 2017 American Society for Bone and Mineral Research.
authors.affiliation: Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Hye-Sun
authors.initials: HS
authors.lastname: Park
authors.affiliation: Yonsei Cancer Center, Division of Medical Oncology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Chang Gon
authors.initials: CG
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Namki
authors.initials: N
authors.lastname: Hong
authors.affiliation: Department of Pathology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Seok Joo
authors.initials: SJ
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Da Hea
authors.initials: DH
authors.lastname: Seo
authors.affiliation: Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Yumie
authors.initials: Y
authors.lastname: Rhee
mesh_terms: D000328:Adult; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D000089703:Fibroblast Growth Factor-23; D006801:Humans; D008297:Male; D008339:Mandibular Neoplasms / Q000235:genetics / Q000601:surgery; D009030:Mosaicism; D012516:Osteosarcoma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D011546:Pseudohypoaldosteronism / Q000235:genetics / Q000473:pathology / Q000601:surgery; D014314:Trisomy / Q000235:genetics / Q000473:pathology
keywords: PARATHYROID-RELATED DISORDERS; PRIMARY TUMORS OF BONE AND CARTILAGE; PTH/VIT D/FGF23