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Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: Clinical description and genetic analysis
Author(s) -
Coca–Pelaz Andrés,
Llorente–Pendás Jose Luis,
García–Martínez Jorge,
Vivanco–Allende Blanca,
Balbín Milagros,
Suárez Carlos,
Hermsen Mario
Publication year - 2013
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.22000
Subject(s) - thyroid carcinoma , nevoid basal cell carcinoma syndrome , pathology , comparative genomic hybridization , medullary cavity , thyroid , medicine , carcinoma , basal cell carcinoma , germline mutation , medullary carcinoma , biology , mutation , genetics , basal cell , gene , chromosome
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, 2013