Possible Relationship Between <i>MYBL1</i> Alterations and Specific Primary Sites in Adenoid Cystic Carcinoma: A Clinicopathological and Molecular Study of 36 Cases

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  • Endo Yukari
    *Department of Pathology, Tottori University Hospital, Yonago 683-8504, Japan †Department of Pathobiological Science and Technology, School of Health Sciences, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
  • Kuwamoto Satoshi
    *Department of Pathology, Tottori University Hospital, Yonago 683-8504, Japan
  • Ohira Takahito
    ‡Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University, Yonago 683-8503, Japan
  • Matsushita Michiko
    †Department of Pathobiological Science and Technology, School of Health Sciences, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
  • Matsushige Takahiro
    *Department of Pathology, Tottori University Hospital, Yonago 683-8504, Japan
  • Fukuhara Takahiro
    §Division of Otolaryngology, Head and Neck Surgery, Department of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan
  • Nakamoto Shu
    ||Department of Pathology, Tottori Prefectural Central Hospital, Tottori 680-0901, Japan
  • Hayashi Kazuhiko
    ¶Division of Molecular Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
  • Kugoh Hiroyuki
    ‡Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University, Yonago 683-8503, Japan
  • Hirooka Yasuaki
    *Department of Pathology, Tottori University Hospital, Yonago 683-8504, Japan

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Abstract

<p>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.</p><p>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.</p><p>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.</p><p>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.</p>

Journal

  • Yonago Acta Medica

    Yonago Acta Medica 62 (1), 067-076, 2019

    Tottori University Medical Press

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