Somatic HRPT2 Mutation (Arg234X) of Parathyroid Carcinoma Associated with Slipped Capital Femoral Epiphysis: A First Case Report.
A 14-year-old boy was admitted to the orthopedic clinic of Rajavithi Hospital complaining of pain in the left hip. A year earlier, pain had developed in his left joint and had gradually increased in intensity in both hips. A month before he was referred, radiographs obtained at another hospital showed bilateral slipped capital femoral epiphysis (SCFE). The patient's biochemical laboratory data showed hypercalcemia, hypophosphatemia, and a high level of intact parathyroid hormone (iPTH) compatible with primary hyperparathyroidism. HRPT2 gene analysis found heterozygosity for c. 700 C > T mutation (Arg234X) of HRPT2 gene at exon 7. This is the first report in the literature about somatic mutation of the HRPT2 gene of parathyroid carcinoma associated with slipped capital femoral epiphysis.
Sathit
S
Niramitmahapanya
Chaicharn
C
Deerochanawong
Veerasak
V
Sarinnapakorn
Thongkum
T
Sunthornthepvarakul
Sarinee
S
Pingsuthiwong
Pornake
P
Athipan
Yuthana
Y
Sangsuda
D000293:Adolescent; D006801:Humans; D008297:Male; D009154:Mutation; D010282:Parathyroid Neoplasms / Q000235:genetics*; D060048:Slipped Capital Femoral Epiphyses / Q000209:etiology*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C454900:CDC73 protein, human; D025521:Tumor Suppressor Proteins