Allelic loss of the retinoblastoma tumor suppressor gene : A marker for aggressive parathyroid tumors ?

Allelic loss of the retinoblastoma tumor suppressor gene has recently been shown to be highly specific for parathyroid carcinoma. It has been proposed that this genetic abnormality may have diagnostic and prognostic implications for parathyroid carcinoma, but to date no further studies are available...

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Published in:The journal of clinical endocrinology and metabolism 1996-09, Vol.81 (9), p.3194-3196
Main Authors: DOTZENRATH, C, BIN TEAN TEH, FARNEBO, F, CUPISTI, K, SVENSSON, A, TOELL, A, GORETZKI, P, LARSSON, C
Format: Article
Language:English
Subjects:
Adenoma - genetics
Adult
Alleles
Biological and medical sciences
Child
Chromosomes, Human, Pair 13
Endocrinopathies
Female
Genes, Retinoblastoma
Heterozygote
Humans
Hyperparathyroidism - etiology
Malignant tumors
Medical sciences
Middle Aged
Mutation
Parathyroid Neoplasms - complications
Parathyroid Neoplasms - genetics
Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)
Prognosis
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Summary:Allelic loss of the retinoblastoma tumor suppressor gene has recently been shown to be highly specific for parathyroid carcinoma. It has been proposed that this genetic abnormality may have diagnostic and prognostic implications for parathyroid carcinoma, but to date no further studies are available to substantiate these findings. In the present study, three cases of atypical recurrent hyperparathyroidism were examined: a patient with parathyroid carcinoma and an autotransplanted adenoma that progressed into carcinoma, a patient with recurrent juvenile hyperparathyroidism, and a patient with severe recurrent secondary hyperparathyroid disease due to rapidly growing autotransplant. Six pairs each of sporadic parathyroid adenoma and secondary parathyroid disease were also studied for comparison. Allelic losses of RB and D13S71 at 13q14 was found in the parathyroid carcinoma and the corresponding autotransplant that had previously been considered benign tissue and in the case of recurrent juvenile hyperparathyroidism, but not in any of the other tumors. Our findings support the findings of the previous study that RB or 13q loss is specific for parathyroid tumors with increased aggressiveness and might be of clinical significance.
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.81.9.3194