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

Michał Popow; Monika Kaszczewska; Magdalena Góralska; Piotr Kaszczewski; Agata Skwarek-Szewczyk; Witold Chudziński; Krystian Jażdżewski; Monika Kolanowska; Magdalena Bogdańska; Aleksandra Starzyńska-Kubicka; Zbigniew Gałązka

doi:10.12659/AJCR.936135

22 October 2022 : Case report Poland

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^1ABCDEF, Monika Kaszczewska^12ABCDEF, Magdalena Góralska^1BCD, Piotr Kaszczewski^2BCDEF*, Agata Skwarek-Szewczyk

^1BCD, Witold Chudziński

^2BD, Krystian Jażdżewski^34BCD, Monika Kolanowska^3BCD, Magdalena Bogdańska^5BCD, Aleksandra Starzyńska-Kubicka

^5BCD, Zbigniew Gałązka^2EF

DOI: 10.12659/AJCR.936135

Am J Case Rep 2022; 23:e936135

Authors information Article notes Copyright and License information

Background Case Reports Discussion Conclusions References:

Related articles Order reprints Share article Share by email

View HTML version

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.

Back to the Article

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

Your Privacy