Case Report

Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: Clinical description and genetic analysis

  1. Andrés Coca–Pelaz MD, PhD1,*,
  2. Jose Luis Llorente–Pendás MD, PhD1,
  3. Jorge García–Martínez MSc1,
  4. Blanca Vivanco–Allende MD2,
  5. Milagros Balbín PhD3,
  6. Carlos Suárez MD, PhD1,
  7. Mario Hermsen PhD1

Article first published online: 9 FEB 2012

DOI: 10.1002/hed.22000

Additional Information

How to Cite

Coca–Pelaz, A., Llorente–Pendás, J. L., García–Martínez, J., Vivanco–Allende, B., Balbín, M., Suárez, C., Hermsen, M. (2012), Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: Clinical description and genetic analysis. Head Neck. doi: 10.1002/hed.22000

Author Information

  1. 1

    Department of Otolaryngology, Instituto Universitario de Oncología del Principado de Asturias, Hospital Universitario Central de Asturias, Spain

  2. 2

    Department of Pathology, Hospital Universitario Central de Asturias, Spain

  3. 3

    Department of Molecular Oncology, Instituto Universitario de Oncología del Principado de Asturias, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain

*Department of Otolaryngology, Instituto Universitario de Oncología del Principado de Asturias, Hospital Universitario Central de Asturias, Spain

Publication History

  1. Article first published online: 9 FEB 2012
  2. Manuscript Accepted: 22 SEP 2011

Funded by

  • EMER07-048 of Fondos de Investigación Sanitaria (FIS), RD06/0020/0034 of Red Temática de Investigación Cooperativa en Cáncer (RTICC), Spain, and the FEDER Funding Program from the European Union

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (1337K)

Keywords:

  • Gorlin–Goltz syndrome;
  • nevoid basal cell carcinoma syndrome;
  • medullary thyroid carcinoma;
  • genetic analysis;
  • 2q37 deletion

Abstract

Background

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, inheritable, multisystem disorder characterized by numerous basal cell carcinomas (BCCs), maxillary keratocyst, and musculoskeletal malformations. Occasionally, it is associated with malignancies like rhabdomyoma, melanoma, and sinonasal undifferentiated carcinoma, to name a few.

Methods

A patient presented with NBCCS with a medullary thyroid carcinoma. Clinical, surgical details, and germline genetic analysis are herein described.

Results

A 32-year-old woman was referred to our department with suspicion of medullary thyroid carcinoma, which was confirmed by histopathological examination. The patient was diagnosed as also having NBCCS. Germline mutation analysis indicated wild-type genes PTCH1 and RET. DNA copy number analysis by high resolution microarray comparative genomic hybridization (CGH) revealed a small interstitial loss at chromosomal band 2q37.3.

Conclusion

To our knowledge, this is the first described patient with NBCCS carrying a medullary thyroid carcinoma and a 2q37 deletion, which confirms that this syndrome can be associated with many different malignancies. © 2012 Wiley Periodicals, Inc. Head Neck, 2012

View Full Article (HTML) Get PDF (1337K)