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Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features.

Abstract：

OBJECTIVE:Familial isolated primary hyperparathyroidism (FIHP) is a rare hereditary disorder. We present four patients from a single family with FIHP, and genetic analysis of their parathyroid adenomas and parathyroid carcinoma. DESIGN:DNA was extracted from tumours resected at surgery. Tumours were examined for loss of heterozygosity (LOH) with microsatellite polymorphic markers. PATIENTS:The 27-year-old proband (Patient 1) died of parathyroid carcinoma with metastases to the lungs and chest wall. Sixteen years later, his 34-year-old sister (Patient 2) presented with a neck tumour and primary hyperparathyroidism. Family screening revealed parathyroid tumours in his 36-year-old sister (Patient 3) and 29-year-old cousin (Patient 4). Histological examination of resected tumours showed parathyroid carcinoma and adenoma in Patient 2, a parathyroid adenoma in Patient 3, and an atypical parathyroid adenoma in Patient 4. Autopsy of the proband ruled out multiple endocrine neoplasia (MEN) type 1, and the three patients who underwent parathyroidectomy did not exhibit any abnormalities in the pancreas or the pituitary gland. RESULTS:Analysis of tumour DNA from one parathyroid carcinoma (Patient 2), the atypical parathyroid adenoma (Patient 4), and two parathyroid adenomas (Patients 2 and 3) showed limited LOH on chromosomes 13q12.3-q32 in an adenoma of Patient 2 and 9p21-p22 and 13q12.3-q32 in an adenoma of Patient 3. CONCLUSION:These results suggest the possible contribution of tumour suppressor genes including the retinoblastoma gene and the hereditary breast cancer susceptibility gene (BRCA2) on 13q to parathyroid tumours in this family.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Yoshimoto K,Endo H,Tsuyuguchi M,Tanaka C,Kimura T,Iwahana H,Kato G,Sano T,Itakura M

doi

10.1046/j.1365-2265.1998.00354.x

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

67-72

issue

1

eissn

0300-0664

issn

1365-2265

journal_volume

48

pub_type

杂志文章

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