PMID- 28693130
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220331
IS  - 1792-1074 (Print)
IS  - 1792-1082 (Electronic)
IS  - 1792-1074 (Linking)
VI  - 14
IP  - 1
DP  - 2017 Jul
TI  - Novel association of MEN1 gene mutations with parathyroid carcinoma.
PG  - 23-30
LID - 10.3892/ol.2017.6162 [doi]
AB  - 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.
FAU - Cinque, Luigia
AU  - Cinque L
AD  - Department of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
FAU - Sparaneo, Angelo
AU  - Sparaneo A
AD  - Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, I-71013 
      San Giovanni Rotondo, Italy.
FAU - Cetani, Filomena
AU  - Cetani F
AD  - Department of Clinical and Experimental Medicine, Endocrine Unit 2, University 
      Hospital of Pisa, I-56124 Pisa, Italy.
FAU - Coco, Michelina
AU  - Coco M
AD  - Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, I-71013 
      San Giovanni Rotondo, Italy.
FAU - Clemente, Celeste
AU  - Clemente C
AD  - Department of Pathology, IRCCS Casa Sollievo della Sofferenza Hospital, I-71013 
      San Giovanni Rotondo, Italy.
FAU - Chetta, Massimiliano
AU  - Chetta M
AD  - Laboratory of Molecular Medicine and Genomics, University of Salerno, I-84081 
      Baronissi, Italy.
FAU - Balsamo, Teresa
AU  - Balsamo T
AD  - Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, I-71013 
      San Giovanni Rotondo, Italy.
FAU - Battista, Claudia
AU  - Battista C
AD  - Department of Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
FAU - Sanpaolo, Eliana
AU  - Sanpaolo E
AD  - Department of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
FAU - Pardi, Elena
AU  - Pardi E
AD  - Department of Clinical and Experimental Medicine, Endocrine Unit 2, University 
      Hospital of Pisa, I-56124 Pisa, Italy.
FAU - D'Agruma, Leonardo
AU  - D'Agruma L
AD  - Department of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
FAU - Marcocci, Claudio
AU  - Marcocci C
AD  - Department of Clinical and Experimental Medicine, Endocrine Unit 2, University 
      Hospital of Pisa, I-56124 Pisa, Italy.
FAU - Maiello, Evaristo
AU  - Maiello E
AD  - Department of Oncohematology, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
FAU - Hendy, Geoffrey N
AU  - Hendy GN
AD  - Departments of Medicine, Physiology and Human Genetics, McGill University, 
      Montreal, QC H4A 3J1, Canada.
AD  - Experimental Therapeutics and Metabolism, McGill University Health Centre 
      Research Institute, Montreal, QC H4A 3J1, Canada.
FAU - Cole, David E C
AU  - Cole DEC
AD  - Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, 
      University of Toronto, Toronto, ON M4N 3M5, Canada.
FAU - Scillitani, Alfredo
AU  - Scillitani A
AD  - Department of Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
FAU - Guarnieri, Vito
AU  - Guarnieri V
AD  - Department of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, 
      I-71013 San Giovanni Rotondo, Italy.
LA  - eng
PT  - Journal Article
DEP - 20170512
PL  - Greece
TA  - Oncol Lett
JT  - Oncology letters
JID - 101531236
PMC - PMC5494910
OTO - NOTNLM
OT  - MEN1
OT  - multiple endocrine neoplasia
OT  - parathyroid carcinoma
EDAT- 2017/07/12 06:00
MHDA- 2017/07/12 06:01
PMCR- 2017/05/12
CRDT- 2017/07/12 06:00
PHST- 2016/09/22 00:00 [received]
PHST- 2016/12/23 00:00 [accepted]
PHST- 2017/07/12 06:00 [entrez]
PHST- 2017/07/12 06:00 [pubmed]
PHST- 2017/07/12 06:01 [medline]
PHST- 2017/05/12 00:00 [pmc-release]
AID - OL-0-0-6162 [pii]
AID - 10.3892/ol.2017.6162 [doi]
PST - ppublish
SO  - Oncol Lett. 2017 Jul;14(1):23-30. doi: 10.3892/ol.2017.6162. Epub 2017 May 12.