Novel association of MEN1 gene mutations with parathyroid carcinoma

Luigia Cinque, Angelo Sparaneo, Filomena Cetani, Michelina Coco, Celeste Clemente, Massimiliano Chetta, Teresa Balsamo, Claudia Battista, Eliana Sanpaolo, Elena Pardi, Leonardo D'agruma, Claudio Marcocci, Evaristo Maiello, Geoffrey N. Hendy, David E.C. Cole, Alfredo Scillitani, Vito Guarnieri

Research output: Contribution to journalArticlepeer-review


Inactivating mutations of the multiple endocrine neoplasia 1 (MEN1) gene cause MEN1 syndrome, characterized by primary hyperparathyroidism (pHPT), and parathyroid and gastro-entero-pancreatic pituitary tumors. At present, only 14 cases of malignant parathyroid tumor have been associated with the syndrome, with 6 cases carrying an inactivating mutation of the MEN1 gene. The present study presents the case of a 48-year-old female who presented with multigland pHPT and multiple pancreatic lesions. The patient underwent surgery several times for the excision of parathyroid hyperplasia, carcinoma and adenoma. The MEN1 gene was screened, revealing three variants (in cis) at the intron/exon 3 boundary (IVS2-3G>C, c.497A>T and c.499G>T) detected on the DNA of the proband, not shared by her relatives. RNA sequencing revealed that the IVS2-3C>G variant caused the skipping of the exon 3. Therefore, the present study reports on a novel rare association of MEN1 syndrome and parathyroid carcinoma. The reported splicing mutation was previously identified in subjects who always developed malignant lesions; thus, a possible genotype-phenotype association may be considered.

Original languageEnglish
Pages (from-to)23-30
Number of pages8
JournalOncology Letters
Issue number1
Publication statusPublished - Jan 1 2017


  • MEN1
  • Multiple endocrine neoplasia
  • Parathyroid carcinoma

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


Dive into the research topics of 'Novel association of MEN1 gene mutations with parathyroid carcinoma'. Together they form a unique fingerprint.

Cite this