22 October 2022: Articles
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 pathology
Michał Popow A , Monika Kaszczewska A , Magdalena Góralska B , Piotr Kaszczewski B* , Agata Skwarek-Szewczyk B , Witold Chudziński B , Krystian Jażdżewski B , Monika Kolanowska B , Magdalena Bogdańska B , Aleksandra Starzyńska-Kubicka B , Zbigniew Gałązka EDOI: 10.12659/AJCR.936135
Am J Case Rep 2022; 23:e936135
Table 1. Clinical features in group of patients with brown and jaw tumors.
| ID | Brown tumor | Jaw tumor | CDC73/HRPT2 mutation | Staining for parafibromin in nucleus | PTH [pg/mL] 15–65 | Ca [mmol/L] 2.15–2.6 | Pi [mmol/L] 0.81–1.45 | Duration of hyperpara-thyroidism | MEN1, CDKN1B, RET mutations | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Long bones, shoulders | Not present | Germinal (pathogenic) | Negative | NID | NID | NID | >10 years | – | Nephrolithiasis. Kidney cysts |
| 2 | Ribs | Not present | Germinal (pathogenic) | Very weak | 768.7 | 3.18 | 0.64 | 2 years | (not pathogenic) | Kidney cysts. Nephrolithiasis. Coexistence of RET mutation of unknown pathogenicity |
| 3 | Iliac, ribs, long bones | Present | Absent | Negative | 1678 | 3.27 | 0.92 | Unknown but >1 year | RET (not pathogenic) | Pathological fractures, uterus, ovary and spleen cysts. Nephrolithiasis. Coexistence of RET mutation of unknown pathogenicity |
| 4 | Long bones | Not present | Absent | Positive | 2226 | 3.09 | 0.79 | 2 years | (pathogenic) | Nephrolitiasis, microadenoma of pituitary gland, NET of pancreas |
| NID – no initial data. | ||||||||||