yam62(1)_67.pdf 2.03 MB
Endo, Yukari Department of Pathology, Tottori University Hospital/Department of Pathobiological Science and Technology, School of Health Sciences, Tottori University Faculty of Medicine
Ohira, Takahito Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University Researchers DB KAKEN
Matsushita, Michiko Department of Pathobiological Science and Technology, School of Health Sciences, Tottori University Faculty of Medicine Researchers DB KAKEN
Matsushige, Takahiro Department of Pathology, Tottori University Hospital
Fukuhara, Takahiro Division of Otolaryngology, Head and Neck Surgery, Department of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine Researchers DB KAKEN
Nakamoto, Shu Department of Pathology, Tottori Prefectural Central Hospital
Hayashi, Kazuhiko Division of Molecular Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine Researchers DB KAKEN
Kugoh, Hiroyuki Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University Researchers DB KAKEN
Hirooka, Yasuaki Department of Pathobiological Science and Technology, School of Health Sciences, Tottori University Faculty of Medicine
adenoid cystic carcinoma
fluorescence in-situ hybridization
Background Adenoid cystic carcinoma (ACC) is a relatively rare malignant neoplasm that occurs in salivary glands and various other organs. Recent studies have revealed that a significant proportion of ACCs harbor gene alterations involving MYB or MYBL1 (mostly fusions with NFIB) in a mutually-exclusive manner. However, its clinical significance remains to be well-established.
Methods We investigated clinicopathological and molecular features of 36 ACCs with special emphasis on the significance of MYBL1 alterations. Reverse-transcription polymerase-chain reaction (RT-PCR) and fluorescence in-situ hybridization (FISH) were performed to detect MYB/MYBL1–NFIB fusions and MYBL1 alterations, respectively. Immunohistochemistry was performed to evaluate MYB expression in the tumors. The results were correlated with clinicopathological profiles of the patients.
Results RT-PCR revealed MYB–NFIB and MYBL1–NFIB fusions in 10 (27.8%) and 7 (19.4%) ACCs, respectively, in a mutually-exclusive manner. FISH for MYBL1 rearrangements was successfully performed in 11 cases, and the results were concordant with those of RT-PCR. Immunohistochemically, strong MYB expression was observed in 23 (63.9%) tumors, none of which showed MYBL1 alterations. Clinicopathologically, a trend of a better disease-specific survival was noted in patients with MYBL1 alterations than in those with MYB–NFIB fusions and/or strong MYB expression; however, the difference was not significant. Interestingly, we found tumors with MYBL1 alterations significantly frequently occurred in the mandibular regions (P = 0.012). Moreover, literature review revealed a similar tendency in a previous study.
Conclusion Our results suggest that there are some biological or etiological differences between ACCs with MYB and MYBL1 alterations. Moreover, the frequent occurrence of MYBL1-associated ACC in the mandibular regions suggests that MYB immunohistochemistry is less useful in diagnosing ACCs arising in these regions. Further studies are warranted to verify our findings.
Tottori University Medical Press
Yonago Acta Medica
|Current Journal Title||
Yonago Acta Medica
注があるものを除き、この著作物は日本国著作権法により保護されています。 / This work is protected under Japanese Copyright Law unless otherwise noted.
Yonago Acta Medica. 2019, 62(1), 67-76
Faculty of Medicine/Graduate School of Medical Sciences/University Hospital