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Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q
Author(s) -
Park HyeSun,
Kim Chang Gon,
Hong Namki,
Lee Seok Joo,
Seo Da Hea,
Rhee Yumie
Publication year - 2017
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1002/jbmr.3043
Subject(s) - pseudohypoparathyroidism , osteosarcoma , medicine , malignancy , parathyroid hormone , osteodystrophy , endocrinology , pathology , calcium
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.