A Case of Familial Isolated Hyperparathyroidism with Ectopic Parathyroid Cancer.

Abstract

Abstract.We report the kindred with familial isolated hyperparathyroidism with parathyroid cancer. The proband was diagnosed as having primary hyperparathyroidism at age 43. The same disorder was also found in his daughter who had low bone mass.His son was found to have primary hyperparathyroidism by family screening. The pathological diagnosis of the resected parathyroid in both father and daughter was parathyroid cancer, and that in son was parathyroid adenoma. The right lower gland of the proband and the left lower gland of the son were present in thymus. No mutations were found in the sequences of MENI gene, hence gene(s) other than MEND gene may have contributed to the malignant potency in our cases.

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism–jaw tumour syndrome

“…In family C, the proband (I‐1) was diagnosed with PHPT, which was also found in his daughter (II‐1) and son (II‐2). The diagnosis of parathyroid tumours in I‐1 was carcinoma 20 . I‐1 underwent repeated resection of metastatic tumours in the mediastinum; however, serum levels of calcium and PTH were elevated.…”

“…The diagnosis of parathyroid tumours in I-1 was carcinoma. 20 I-1 underwent repeated resection of metastatic tumours in the mediastinum; however, serum levels of calcium and PTH were elevated. In family D, a resected rightinferior parathyroid tumour of the proband (I-1) showed slight atypia and several capsular invasions, but no vascular invasion.…”

Parathyroid Cancer - Occurrence, Diagnosis, Treatment

“…This condition is found four times more often in women (12,19,28,(32)(33)(34). Primary PC is far more frequently found in groups with familial type of hyperparathyroidism (1,(35)(36)(37)(38)(39)(40)(41).…”

“…Risk factors connected with thyroid cancer occurrence include also some hereditary diseases like family idiopathic hyperparathyroidism (FIHP), polyendocrine adenomatosis syndromes (MEN1, MEN2A), hereditary syndrome consisting of hyperparathyroidism and maxillary or mandibular tumors (HPT-JT) (6,16,36,37,38,61).…”

“…Diagnosis of a recurrence is based on redevelopment of hypercalcemia (59). Patients with polyadenomatosis syndromes (MEN1, MEN2A or FIHP) are at highest risk of developing hyperparathyroidism recurrence (6,16,36,38,60). The recurrence is local in most cases (21,36,61) and rather difficult to localize because of its possibly very small size or multifocal character (13).…”