: Case report
[In Press] Association Between Parafibromin Expression and Presence of Brown Tumors and Jaw Tumors in Patients with Primary Hyperparathyroidism: Series of Cases with Review of the Literature
Challenging differential diagnosis, Unusual setting of medical care, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathologyMichał Popow1ABCDEF, Monika Kaszczewska21ABCDEF, Magdalena Góralska1BCD, Piotr Kaszczewski2BCDEF, Agata Skwarek-Szewczyk 1BCD, Witold Chudziński 2BD, Krystian Jażdżewski34BCD, Monika Kolanowska4BCD, Magdalena Bogdańska5BCD, Aleksandra Starzyńska-Kubicka 5BCD, Zbigniew Gałązka2EF
Am J Case Rep In Press; DOI: :: ID: 936135
Available online: , In Press, Corrected Proof
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Brown and jaw tumors are rare entities of poorly understood etiology that are regarded as end-stage of bone remodeling in patients with long-lasting and chronic hyperparathyroidism. Jaw tumors are mainly diagnosed in jaw tumors syndrome (HPT-JT syndrome) and are caused by mutation in the CDC73 gene, encoding parafibromin, a tumor suppressing protein. The aim of this work is to present 4 cases of patients in whom the genetic mutation of the CDC73 gene and clinical presentation coexist in an unusual setting that has not yet been described.
We present cases of 4 patients with primary hyperparathyroidism. Three were diagnosed with brown tumors (located in long bones, ribs, iliac, shoulders) and 1 with brown and jaw tumors. Expression of parafibromin in affected parathyroid tissues were analyzed. In patients without positive parafibromin staining, we searched for CDC73 mutation using next-generation sequencing. Parafibromin staining was positive in 1 patient with brown tumors and was negative in 2 individuals with brown tumors and 1 with brown and jaw tumors. CDC73 mutation was detected in two-thirds of patients (60%) with negative staining for parafibromin and brown tumors. MEN1 mutation was found in the patient with brown tumor and positive staining for parafibromin.
Patients with hyperparathyroidism and coexistence of brown tumors or jaw tumors might have decreased expression of parafibromin in parathyroid adenoma tissue, which might be caused by CDC73 mutation and suggest a genetic predisposition. Further research on much larger study groups is needed.
Keywords: Hedgehogs; Hyperparathyroidism; CDC73 Protein, Human
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