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Fritz, A. ; Walch, A.K. ; Piotrowska, K. ; Rosemann, M. ; Schäffer, E.H. ; Weber, K.* ; Timper, A. ; Wildner, G.* ; Graw, J. ; Höfler, H. ; Atkinson, M.J.

Recessive Transmission of a Multiple Endocrine Neoplasia Syndrome in the Rat.

Cancer Res. 62, 3048-3051 (2002)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
We describe a novel hereditary cancer syndrome in the rat that is transmitted by a recessive gene mutation. Animals exhibiting the mutant phenotype develop multiple neuroendocrine malignancies within the first year of life. The endocrine neoplasia is characterized by bilateral adrenal pheochromocytoma, multiple extra-adrenal pheochromocytoma, bilateral medullary thyroid cell neoplasia, bilateral parathyroid hyperplasia, and pituitary adenoma. The appearance of neoplastic disease is preceded by the development of bilateral juvenile cataracts. Although the spectrum of affected tissues is reminiscent of human forms of multiple endocrine neoplasia (MEN), no germ-line mutations were detected in the Ret or Menin genes that are responsible for the dominantly inherited MEN syndromes in humans. Segregation studies in F1 and F2 crosses yielded frequencies of affected animals entirely consistent with a recessive autosomal mode of inheritance. The lack of the phenotype in F1 animals effectively excludes a germ-line tumor suppressor gene mutation as the causal event. The absence of mutation of known MEN genes and the unique constellation of affected tissues, plus the recessive mode of inheritance, lead us to conclude that the mutation of an as yet unknown gene is responsible for this syndrome of inherited neuroendocrine cancer.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords HIPPEL-LINDAU-DISEASE; RET PROTOONCOGENE; MUTATIONS; TUMORS; MICE; TYPE-2A; MODEL; GENE; 2A
ISSN (print) / ISBN 0008-5472
e-ISSN 1538-7445
Journal Cancer Research
Quellenangaben Volume: 62, Issue: 11, Pages: 3048-3051 Article Number: , Supplement: ,
Publisher American Association for Cancer Research (AACR)
Publishing Place Philadelphia, Pa.
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Pathology (PATH)