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PubMed2003

Molecular genetic alterations in adrenal and extra-adrenal pheochromocytomas and paragangliomas.

Pheochromocytomas and paragangliomas are neuroendocrine neoplasias of neural crest origin. Genetic mutations that are characterized in other human neoplasms are rarely seen in these tumors. About 10% of the patients with pheochromocytomas and paragangliomas present with a family history of von Hippel-Lindau disease (VHL), Multiple endocrine neoplasia type 2 (MEN2), one of the three familial paraganglioma syndromes (PGL; PGL1, PGL3, PGL4), or neurofibromatosis type 1 (NF1). In an even higher percentage, a genetic predisposition is involved in the development of these tumors. The genes of hereditary tumor syndromes such as the aforementioned ones are also ideal to study the molecular pathogenesis in the sporadic counterparts. Many studies have been undertaken to identify important secondary genetic events that contribute to the tumorigenesis of pheochromocytoma or paraganglioma, but a comprehensive review of these data is lacking. Recent findings of CGH and LOH studies provided new starting points to unravel the pathogenesis and progression of these tumors. This review presents an overview of our current understanding of the molecular pathogenesis of pheochromocytoma and paraganglioma.

Adrenal Gland Neoplasms↗
PubMed1987

[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

An enzyme-linked immunosorbent assay (ELISA) for Cortisol in dried blood collected on filter paper has been developed. The ELISA method is very simple and rapid and has sensitivity, accuracy and precision. The detection limit of the ELISA is 10 ng/ml blood. The intra- and interassay coefficients of variation are 11.5-13.5% and 15.7-16.7, respectively. Using the ELISA for Cortisol and 17-hydroxyprogesterone (17-OHP) previously reported, dried blood from normal newborns including premature infants (n = 1583) and 21-hydroxylase deficiency (21-OHD) patient (n = 9) were analyzed. 17-OHP, Cortisol and 17-OHP/Cortisol ratio of normal newborns are 12.5 +/- 7.5 ng/ml (1.0-140 ng/ml), 89.0 +/- 64.3 ng/ml (10-1580 ng/ml) and 0.16 +/- 0.08 (0.01-0.86), respectively. In 21-OHD patients, 17-OHP is 109-1361 ng/ml, Cortisol is 35.1-146.7 ng/ml and 17-OHP/cortisol ratio is 1.84-12.2. It made recall rate less to measure Cortisol in addition to 17-OHP and to take 17-OHP/Cortisol ratio. Therefore, additional measurement of Cortisol to the primary 17-OHP screening test is advantaged in differentiating the normal newborns from the 21-OHD patients.

Adrenal Hyperplasia, Congenital↗