title: 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.affiliation: Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Piemontese
authors.forename: Alberto
authors.initials: A
authors.lastname: Cavazza
authors.forename: Simonetta
authors.initials: S
authors.lastname: Rosato
authors.forename: Anita
authors.initials: A
authors.lastname: Wischmeijer
authors.forename: Chiara
authors.initials: C
authors.lastname: Gelmini
authors.forename: Enrico
authors.initials: E
authors.lastname: Albertini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Albertini
authors.forename: Francesca
authors.initials: F
authors.lastname: Forzano
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Franchi
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D019066:Facies; D052218:Fanconi Anemia Complementation Group C Protein / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007889:Leiomyoma / Q000175:diagnosis / Q000209:etiology*; D008099:Liver / Q000473:pathology; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D009396:Wilms Tumor / Q000175:diagnosis / Q000209:etiology*; D055815:Young Adult
chemical_list: D052218:Fanconi Anemia Complementation Group C Protein; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface
keywords: 9q22.3 microdeletion; FANC-C; PTCH1; Wilms tumor; gorlin syndrome; leiomyoma; nevoid basal cell carcinoma syndrome (NBCCS)