IllnessParathyroid cancer, differential diagnosis

NGS +

{Sanger]

n about 90% of cases, an early sign of parathyroid cancer is hyperparathyroidism with hypercalcemic crisis. Neurologic and psychiatric problems may develop, as well as renal and bone complications. Mutations in the CDC73 gene are found in up to 70% of parathyroid cancer cases. In about one-third of affected individuals with changes in this gene, the mutation is inherited. Parathyroid cancer occurs in 15% of individuals with hyperparathyroidism-pineal tumor syndrome and in 1% of patients with familial isolated hyperparathyroidism. Both conditions are also caused by mutations in the CDC73 gene. In rare cases, parathyroid cancer has also been found in patients with multiple endocrine neoplasia (MEN1). Mutations in other genes may also contribute to the development of parathyroid cancer. A negative DNA result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK3789/

• Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Adrenocortical tumor, somatic (PRKAR1A)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Hypocalcemia, AD (CASR)
• Allelic: Hypocalcemia, AD 2 (GNA11)
• Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
• Allelic: Hypoparathyroidism, familial isolated 2 (GCM2)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Myxoma, intracardiac (PRKAR1A)
• Allelic: Osteosarcoma (TP53)
• Allelic: Pheochromocytoma (RET)
• Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Allelic: Pituitary adenoma 1, multiple types (AIP)
• Allelic: Pituitary adenoma predisposition (AIP)
• Carney complex, type 1 (PRKAR1A)
• Endocrine cancer [panelapp] (TP53)
• Hyperparathyroidism 4 (GCM2)
• Hyperparathyroidism, neonatal (CASR)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Hypocalciuric hypercalcemia, type I (CASR)
• Hypocalciuric hypercalcemia, type II (GNA11)
• Hypocalciuric hypercalcemia, type III (AP2S1)
• Multiple endocrine neoplasia I (MEN1)
• Multiple endocrine neoplasia IIA + IIB (RET)
• Multiple endocrine neoplasia IV (CDKN1B)
• Parathyroid adenoma with cystic changes (CDC73)
• Parathyroid carcinoma (CDC73)
• Retinoblastoma (RB1)
• Retinoblastoma, trilateral (RB1)