NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate

Shuanzeng Wei; Jianming Pei; Akina Tamaki; Aldana Vistarop; Peter A McCue; Lu Chen; Douglas B Flieder

doi:10.1007/s00428-025-04107-4

NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate

Shuanzeng Wei
, Jianming Pei
, Akina Tamaki
, Aldana Vistarop
, Peter A McCue
, Lu Chen
, Douglas B Flieder

Fox Chase Cancer Center
Lewis Katz School of Medicine, Temple University

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	455-458
Number of pages	4
Journal	Virchows Archiv
Volume	488
Issue number	2
Early online date	Apr 21 2025
DOIs	https://doi.org/10.1007/s00428-025-04107-4
State	Published - Feb 2026

Keywords

Aged
Biomarkers, Tumor/genetics
Carcinoma, Adenoid Cystic/genetics
Gene Fusion
Humans
Male
NFI Transcription Factors/genetics
Oncogene Proteins, Fusion/genetics
Palatal Neoplasms/genetics
Proto-Oncogene Proteins
Salivary Gland Neoplasms/genetics
Trans-Activators

Access to Document

10.1007/s00428-025-04107-4

Cite this

@article{fea74adfe58248adae012804910551cf,

title = "NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate",

abstract = "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.",

keywords = "Aged, Biomarkers, Tumor/genetics, Carcinoma, Adenoid Cystic/genetics, Gene Fusion, Humans, Male, NFI Transcription Factors/genetics, Oncogene Proteins, Fusion/genetics, Palatal Neoplasms/genetics, Proto-Oncogene Proteins, Salivary Gland Neoplasms/genetics, Trans-Activators",

author = "Shuanzeng Wei and Jianming Pei and Akina Tamaki and Aldana Vistarop and McCue, \{Peter A\} and Lu Chen and Flieder, \{Douglas B\}",

note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2025.",

year = "2026",

month = feb,

doi = "10.1007/s00428-025-04107-4",

language = "English",

volume = "488",

pages = "455--458",

journal = "Virchows Archiv",

issn = "0945-6317",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "2",

}

TY - JOUR

T1 - NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate

AU - Wei, Shuanzeng

AU - Pei, Jianming

AU - Tamaki, Akina

AU - Vistarop, Aldana

AU - McCue, Peter A

AU - Chen, Lu

AU - Flieder, Douglas B

N1 - Publisher Copyright: © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2025.

PY - 2026/2

Y1 - 2026/2

N2 - 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.

AB - 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.

KW - Aged

KW - Biomarkers, Tumor/genetics

KW - Carcinoma, Adenoid Cystic/genetics

KW - Gene Fusion

KW - Humans

KW - Male

KW - NFI Transcription Factors/genetics

KW - Oncogene Proteins, Fusion/genetics

KW - Palatal Neoplasms/genetics

KW - Proto-Oncogene Proteins

KW - Salivary Gland Neoplasms/genetics

KW - Trans-Activators

UR - https://www.scopus.com/pages/publications/105003147181

U2 - 10.1007/s00428-025-04107-4

DO - 10.1007/s00428-025-04107-4

M3 - Article

C2 - 40257526

SN - 0945-6317

VL - 488

SP - 455

EP - 458

JO - Virchows Archiv

JF - Virchows Archiv

IS - 2

ER -

NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

HMN 2025: How Novel fusion gene results in prognosis of adenoid cystic carcinoma

Discovery of Novel Fusion Gene Enables Accurate Diagnosis of Adenoid Cystic Carcinoma

New Findings from Fox Chase Cancer Center in Adenoid Cystic Carcinoma Provides New Insights ( nfib::phactr2 , a Novel Atypical Fusion Gene Identified In Adenoid Cystic Carcinoma of the Palate)

Cite this

NFIB::PHACTR2, a novel atypical fusion gene identified in adenoid cystic carcinoma of the palate

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Press/Media

HMN 2025: How Novel fusion gene results in prognosis of adenoid cystic carcinoma

Discovery of Novel Fusion Gene Enables Accurate Diagnosis of Adenoid Cystic Carcinoma

New Findings from Fox Chase Cancer Center in Adenoid Cystic Carcinoma Provides New Insights ( nfib::phactr2 , a Novel Atypical Fusion Gene Identified In Adenoid Cystic Carcinoma of the Palate)

Cite this