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. 2007 Aug;92(8):3321-5.
doi: 10.1210/jc.2006-2843. Epub 2007 May 22.

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

Marianthi Georgitsi  1 , Anniina Raitila, Auli Karhu, Rob B van der Luijt, Cora M Aalfs, Timo Sane, Outi Vierimaa, Markus J Mäkinen, Karoliina Tuppurainen, Ralph Paschke, Oliver Gimm, Christian A Koch, Sadi Gündogdu, Anneke Lucassen, Marc Tischkowitz, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Ernesto De Menis, Virpi Launonen, Pia Vahteristo, Lauri A Aaltonen
Affiliations

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

Marianthi Georgitsi et al. J Clin Endocrinol Metab. 2007 Aug.

Abstract

Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.

Objective: Our objective was to evaluate the role of CDKN1B/p27(Kip1) in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients.

Design: Genomic DNA was analyzed for germline mutations in the CDKN1B/p27(Kip1) gene by PCR amplification and direct sequencing.

Setting: The study was conducted at nonprofit academic research and medical centers.

Patients: Thirty-six Dutch and one German suspected MEN1 patient, who previously tested negative for germline MEN1 gene mutations, were analyzed. In addition, 19 familial and 50 sporadic acromegaly/pituitary adenoma patients from Europe and the United States were included in the study.

Main outcome measures: We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features.

Results: A heterozygous 19-bp duplication (c.59_77dup19) leading to a truncated protein product was identified in one Dutch patient with suspected MEN1 phenotype, pituitary adenoma, carcinoid tumor, and hyperparathyroidism (one of 36, 2.8%). No mutations were detected in either familial or sporadic acromegaly/pituitary adenoma patients.

Conclusions: Our results support the previous finding that germline CDKN1B/p27(Kip1) mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.

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