Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Abstract

Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS.

• Authors: Livia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, Simonetta Rosato, Anita Wischmeijer, Chiara Gelmini, Enrico Albertini, Giuseppe Albertini, Francesca Forzano, Fabrizia Franchi, Massimo Carella, Leopoldo Zelante, Andrea Superti-Furga
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 11 Pg. 2894-901 (Nov 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 24124115 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• Fanconi Anemia Complementation Group C Protein
• PTCH1 protein, human
• Patched Receptors
• Patched-1 Receptor
• Receptors, Cell Surface

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adolescent
• Adult
• Basal Cell Nevus Syndrome (complications, diagnosis, genetics)
• Cause of Death
• Child
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 9
• DNA Mutational Analysis
• Facies
• Fanconi Anemia Complementation Group C Protein (genetics)
• Fatal Outcome
• Female
• Humans
• Infant
• Leiomyoma (diagnosis, etiology)
• Liver (pathology)
• Mutation
• Patched Receptors
• Patched-1 Receptor
• Phenotype
• Receptors, Cell Surface (genetics)
• Wilms Tumor (diagnosis, etiology)
• Young Adult