title: Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous             low-grade adenocarcinoma of the head and neck.
abstract: Polymorphous low-grade adenocarcinoma (PLGA) is a malignancy predominantly             originating from the minor salivary glands. The molecular events underlying the             pathogenesis of PLGA is poorly understood and no recurrent genetic aberrations             have so far been identified. We used genome-wide, high-resolution aCGH analysis             to explore genomic imbalances in 9 cases of PLGA. Because of the well-known morphologic             similarities between PLGA and adenoid cystic carcinoma (ACC) we also analyzed             all tumors for expression of the recently identified ACC-associated MYB-NFIB gene             fusion. aCGH analysis revealed that the PLGA genome contains comparatively few             copy number alterations (CNAs). Gains/losses of whole chromosomes or chromosome             arms were more than twice as common as partial CNAs. Two cases showed gain of             chromosome 8 and one case each gain of chromosome 9, loss of chromosome 22 and             loss of the Y chromosome. One case showed loss of the entire 6q arm and one case             an interstitial deletion of a 33-Mb segment within 6q22.1-q24.3. This region contains             the MYB oncogene and the candidate tumor suppressor gene PLAGL1. RT-PCR analysis             revealed that one of the 9 PLGAs expressed the ACC-associated MYB-NFIB gene fusion,             illustrating the diagnostic difficulties associated with the diagnosis of these             morphologically partly overlapping entities. Taken together, our findings indicate             that the PLGA genome is genetically stable and contains comparatively few CNAs             which is in line with the clinical observation that PLGA is a slow-growing, low-grade             carcinoma with low metastatic potential.
authors: Sahlgrenska Cancer Center, Department of Pathology, The Sahlgrenska                     Academy at University of Gothenburg, Gothenburg, Sweden.
authors: Fredrik
authors: F
authors: Persson
authors: André
authors: A
authors: Fehr
authors: Kaarina
authors: K
authors: Sundelin
authors: Bernd
authors: B
authors: Schulte
authors: Thomas
authors: T
authors: Löning
authors: Göran
authors: G
authors: Stenman
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D005260:Female; D018628:Gene Dosage; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D060787:Neoplasm Grading; D015514:Oncogene Proteins, Fusion / Q000096:biosynthesis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics
chemical_list: C545202:MYB-NFIB fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger