Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous low-grade adenocarcinoma of the head and neck.
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Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous low-grade adenocarcinoma of the head and neck. / Persson, Fredrik; Fehr, André; Sundelin, Kaarina; Schulte, Bernd; Löning, Thomas; Stenman, Göran.
In: INT J ONCOL, Vol. 40, No. 1, 1, 2012, p. 80-84.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous low-grade adenocarcinoma of the head and neck.
AU - Persson, Fredrik
AU - Fehr, André
AU - Sundelin, Kaarina
AU - Schulte, Bernd
AU - Löning, Thomas
AU - Stenman, Göran
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Adult
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Aged, 80 and over
KW - Adolescent
KW - Chromosome Aberrations
KW - Comparative Genomic Hybridization
KW - Gene Dosage
KW - Polymerase Chain Reaction
KW - RNA, Messenger/biosynthesis/genetics
KW - Neoplasm Grading
KW - Adenocarcinoma/genetics/metabolism/pathology
KW - Head and Neck Neoplasms/genetics/metabolism/pathology
KW - Oncogene Proteins, Fusion/biosynthesis/genetics
KW - Adult
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Aged, 80 and over
KW - Adolescent
KW - Chromosome Aberrations
KW - Comparative Genomic Hybridization
KW - Gene Dosage
KW - Polymerase Chain Reaction
KW - RNA, Messenger/biosynthesis/genetics
KW - Neoplasm Grading
KW - Adenocarcinoma/genetics/metabolism/pathology
KW - Head and Neck Neoplasms/genetics/metabolism/pathology
KW - Oncogene Proteins, Fusion/biosynthesis/genetics
M3 - SCORING: Journal article
VL - 40
SP - 80
EP - 84
JO - INT J ONCOL
JF - INT J ONCOL
SN - 1019-6439
IS - 1
M1 - 1
ER -
