NFIB::PHACTR2，一种在腭腺样囊性癌中鉴定出的新型非典型融合基因。
NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate.
作者信息
Wei Shuanzeng, Tamaki Akina, Pei Jianming, Vistarop Aldana, McCue Peter A, Chen Lu, Flieder Douglas B
机构信息
Department of Pathology, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
Department of Otolaryngology-Head and Neck Surgery, Lewis Katz School of Medicine at Temple University, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA.
出版信息
Virchows Arch. 2025 Apr 21. doi: 10.1007/s00428-025-04107-4.
Adenoid cystic carcinoma (ACC) is the second most common malignancy of salivary glands with a poor long-term prognosis. The presence of mutually exclusive t(6;9)/MYB::NFIB and t(8;9)/MYBL1::NFIB chromosomal translocations has been used as diagnostic markers for ACC. In this study, we report a non-MYB/MYBL1 fusion gene NFIB::PHACTR2 in a palate ACC of a 66-year-old male. The excised 1.7 cm partially encapsulated tumor featured focal invasion into the adjacent mucinous minor salivary glands. By light microscopy, the tumor showed cribriform and tubular patterns with obvious perineural and intraneural invasion. The findings remind us that salivary gland tumors without MYB/MYBL1 fusion genes could still be ACC if they have a rearrangement involving genes adjacent to MYB/MYBL1 genes.
腺样囊性癌（ACC）是唾液腺第二常见的恶性肿瘤，长期预后较差。相互排斥的t(6;9)/MYB::NFIB和t(8;9)/MYBL1::NFIB染色体易位的存在已被用作ACC的诊断标志物。在本研究中，我们报告了一名66岁男性腭部ACC中一个非MYB/MYBL1融合基因NFIB::PHACTR2。切除的1.7厘米部分包膜肿瘤的特征是局灶性侵犯相邻的黏液性小唾液腺。光镜下，肿瘤呈筛状和管状结构，有明显的神经周围和神经内侵犯。这些发现提醒我们，没有MYB/MYBL1融合基因的唾液腺肿瘤，如果其涉及与MYB/MYBL1基因相邻基因的重排，仍可能是ACC。
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