ID: 19-0149 8 6 Q Pang et al. PHO patients with soft tissue 8:6 736–744 giant tumor caused by HPGD mutation RESEARCH The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation Qianqian Pang1,2, Yuping Xu1,3, Xuan Qi1, Yan Jiang1, Ou Wang1, Mei Li1, Xiaoping Xing1, Ling Qin2 and Weibo Xia1 1Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China 2Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, Hong Kong SAR, Hong Kong 3Department of Endocrinology, The First Affiliated Hospital of Shanxi Medicalniversity, U Taiyuan, Shanxi, China Correspondence should be addressed to L Qin or W Xia:
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[email protected] Abstract Background: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic Key Words disease characterized by digital clubbing, periostosis and pachydermia. Two genes, f primary hypertrophic HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) osteoarthropathy and prostaglandin transporter (PGT), respectively, have been reported to be related to f PHO PHO. Deficiency of aforementioned two genes leads to failure of prostaglandin E2 (PGE2) f HPGD mutation degradation and thereby elevated levels of PGE2. PGE2 plays an important role in f soft tumor tumorigenesis. Studies revealed a tumor suppressor activity of 15-PGDH in tumors, such f COX2 selective inhibitor treatment as lung, bladder and breast cancers. However, to date, no HPGD-mutated PHO patients presenting concomitant tumor has been documented.