MEN1 gene mutation with parathyroid carcinoma: First report of a familial case

Luigia Cinque, Angelo Sparaneo, Antonio S. Salcuni, Danilo De Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N. Hendy, David E.C. Cole, Alfredo Scillitani, Vito Guarnieri

Research output: Contribution to journalArticlepeer-review


Background: The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a family. Methods: We report on a 61-year-old male, operated for a 7.3 cm parathyroid carcinoma infiltrating the esophagus. In his brother, a 4.6 cm parathyroid carcinoma was diagnosed histologically, while in the daughter, neck ultrasonography revealed 2 extrathyroidal nodules, yet to be excised. Results: Screening of the MEN1 gene identified a known germline heterozygous missense mutation (c.1252G>A; p.D418N) in exon 9, in all affected subjects. Conclusions: The occurrence of parathyroid carcinoma in more than one affected member of a single MEN1 family represents the first reported familial case. This suggests that additional constitutional genetic mutations may contribute to the variation in malignant potential and clinical behavior of parathyroid tumors in MEN1.

Original languageEnglish
Pages (from-to)886-891
Number of pages6
JournalEndocrine Connections
Issue number8
Publication statusPublished - Nov 1 2017


  • Familial
  • MEN1
  • Multiple endocrine neoplasia
  • Parathyroid carcinoma

ASJC Scopus subject areas

  • Endocrinology
  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism


Dive into the research topics of 'MEN1 gene mutation with parathyroid carcinoma: First report of a familial case'. Together they form a unique fingerprint.

Cite this