| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.27 | CDKN1B | Zornitza Stark Marked gene: CDKN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.27 | CDKN1B | Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.27 | CDKN1B | Zornitza Stark Classified gene: CDKN1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.27 | CDKN1B | Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.26 | CDKN1B |
Zornitza Stark gene: CDKN1B was added gene: CDKN1B was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Review for gene: CDKN1B was set to GREEN Added comment: MEN4 is a very rare hereditary cancer syndrome characterized by parathyroid adenoma/hyperplasia and pituitary adenomas (Cushing disease, prolactinoma, somatotroph, corticotroph, and nonfunctioning adenomas). Primary hyperparathyroidism (pHPT) as a uniglandular disease is the leading pathology. Less frequently, additional endocrine/neuroendocrine neoplasias have been reported, including gastroenteropancreatic neuroendocrine tumors (NETs) and Zollinger-Ellison syndrome, NETs of the cervix and lungs, papillary thyroid carcinoma, thymic tumors, and adrenal masses. Other reported rare manifestations include meningiomas, and cancers of the uterus, testes, breast, colon, and kidneys. Presymptomatic surveillance recommendations for MEN4 have been suggested and are as follows: •Annual blood tests recommended for pHPT (calcium) and biochemical surveillance for secretory pituitary somatotroph adenomas (annual IGF-1), beginning in adolescence. •Endocrine surveillance is primarily clinical and should concentrate on evidence of growth hormone excess (gigantism/acromegaly) and glucocorticoid excess (Cushing syndrome), with concern for either prompting endocrine consultation. Sources: Expert list |
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