Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: Clinical description and genetic analysis. Issue 5 (9th February 2012)

• Record Type: Journal Article
• Authors: Coca–Pelaz, Andrés; Llorente–Pendás, Jose Luis; García–Martínez, Jorge; Vivanco–Allende, Blanca; Balbín, Milagros; Suárez, Carlos; Hermsen, Mario; Irish, Jonathan
• Is Part Of: Head & neck. Volume 35:Issue 5(2013:May)
• Page Start: E147
• Page End: E152
• Publication Date: 2012-02-09
• Subjects: Head -- Diseases -- Periodicals; Neck -- Diseases -- Periodicals; Head -- Periodicals; Neck -- Periodicals; Face -- Periodicals; 617.51059
• DOI: 10.1002/hed.22000
• Languages: English
• ISSNs: 1043-3074

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="abs1-1" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="abs1-2" sec-type="section"> <title>Methods</title> <p>A patient presented with NBCCS with a medullary thyroid carcinoma. Clinical, surgical details, and germline genetic analysis are herein described.</p> </sec> <sec id="abs1-3" sec-type="section"> <title>Results</title> <p>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 <italic>PTCH1</italic> and <italic>RET</italic>. DNA copy number analysis by high resolution microarray comparative genomic hybridization (CGH) revealed a small interstitial loss at chromosomal band 2q37.3.</p> </sec> <sec id="abs1-4" sec-type="section"> <title>Conclusion</title> <p>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</p> </sec> </abstract>