# Identification and visualization of fusion gene subtypes in APL using spatial attention mechanisms in vision models

**Authors:** Peirou Yan, Guo Pu, Ping Wu, Lijun Wen, Suning Chen, Song Xue

PMC · DOI: 10.3389/fonc.2025.1619296 · 2025-07-30

## TL;DR

This paper introduces a deep learning model with spatial attention to accurately identify and visualize APL fusion gene subtypes from bone marrow images.

## Contribution

A novel CNN with spatial attention mechanism for high-precision APL subtype identification and visualization.

## Key findings

- The model achieved 98.04% overall accuracy in classifying five APL fusion gene subtypes.
- Attention maps improved model interpretability by highlighting key image regions.
- The approach offers a rapid and accurate diagnostic alternative to traditional genetic testing.

## Abstract

Acute promyelocytic leukemia (APL) features leukemic cell differentiation arrest at the promyelocytic stage, mainly due to the t (15;17), (q24; q21) translocation that forms the PML-RARA fusion protein. Variant RARα translocations, with distinct biological traits and all-trans retinoic acid (ATRA) responses, often cause misdiagnosis and lengthy genetic testing.

To solve these problems, we propose a spatial attention mechanism-enhanced convolutional neural network integrating ResNet Blocks and a spatial attention module (CNN with spatial attention), which can achieve high-precision identification of APL fusion gene subtypes and pixel-level visualization of key areas. Data collected from two hospitals and Kaggle, including bone marrow smear images of PML-RARA, TTMV-RARA, NPM1-RARA, STAT5B-RARA, and NUP98-RARG subtypes, were preprocessed to form a five-class dataset.

The model achieves an overall accuracy of 98.04% in five - class classification, with good performance in each category. The attention maps also enhance the model’s interpretability.

Such a novel and rapid diagnostic approach for APL subtypes, which achieves high - precision identification and pixel - level visualization, holds significant clinical value.

## Linked entities

- **Chemicals:** all-trans retinoic acid (PubChem CID 444795), ATRA (PubChem CID 444795)
- **Diseases:** Acute promyelocytic leukemia (MONDO:0012883), APL (MONDO:0008847)

## Full-text entities

- **Genes:** GTF2I (general transcription factor IIi) [NCBI Gene 2969] {aka BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN}, FIP1L1 (factor interacting with PAPOLA and CPSF1) [NCBI Gene 81608] {aka FIP1, Rhe, hFip1}, ZBTB16 (zinc finger and BTB domain containing 16) [NCBI Gene 7704] {aka PLZF, ZNF145}, RARG (retinoic acid receptor gamma) [NCBI Gene 5916] {aka NR1B3, RARC, RARgamma}, HNRNPC (heterogeneous nuclear ribonucleoprotein C) [NCBI Gene 3183] {aka HNRNP, HNRPC, MRD74, SNRPC}, RARA (retinoic acid receptor alpha) [NCBI Gene 5914] {aka NR1B1, RAR, RARalpha}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, NUP98 (nucleoporin 98 and 96 precursor) [NCBI Gene 4928] {aka ADIR2, NUP196, NUP96, Nup98-96}, IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417] {aka HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC}, STK11 (serine/threonine kinase 11) [NCBI Gene 6794] {aka LKB1, PJS, hLKB1}, STAT3 (signal transducer and activator of transcription 3) [NCBI Gene 6774] {aka ADMIO, ADMIO1, APRF, HIES}, IRF2BP2 (interferon regulatory factor 2 binding protein 2) [NCBI Gene 359948] {aka CVID14, LRIR2}, PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) [NCBI Gene 5573] {aka ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1}, TBL1XR1 (TBL1X/Y related 1) [NCBI Gene 79718] {aka C21, DC42, IRA1, MRD41, TBLR1}, TFG (trafficking from ER to golgi regulator) [NCBI Gene 10342] {aka HMSNP, SPG57, TF6, TRKT3}, NABP1 (nucleic acid binding protein 1) [NCBI Gene 64859] {aka NABP1-OT1, OBFC2A, SOSS-B2, SSB2}, CPSF6 (cleavage and polyadenylation specific factor 6) [NCBI Gene 11052] {aka CFIM, CFIM68, CFIM72, HPBRII-4, HPBRII-7}, NUMA1 (nuclear mitotic apparatus protein 1) [NCBI Gene 4926] {aka NMP-22, NUMA}, THRAP3 (thyroid hormone receptor associated protein 3) [NCBI Gene 9967] {aka BCLAF2, TRAP150}, STAT5B (signal transducer and activator of transcription 5B) [NCBI Gene 6777] {aka GHISID2, STAT5}, PML (PML nuclear body scaffold) [NCBI Gene 5371] {aka MYL, PP8675, RNF71, TRIM19}, NPM1 (nucleophosmin 1) [NCBI Gene 4869] {aka B23, NPM}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, FNDC3B (fibronectin type III domain containing 3B) [NCBI Gene 64778] {aka FAD104, PRO4979, YVTM2421}, ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17) [NCBI Gene 170691] {aka WMS4}, EGFR (epidermal growth factor receptor) [NCBI Gene 1956] {aka ERBB, ERBB1, ERRP, HER1, NISBD2, NNCIS}, FAT1 (FAT atypical cadherin 1) [NCBI Gene 2195] {aka CDHF7, CDHR8, FAT, ME5, hFat1}, BCOR (BCL6 corepressor) [NCBI Gene 54880] {aka ANOP2, MAA2, MCOPS2}, SETBP1 (SET binding protein 1) [NCBI Gene 26040] {aka MRD29, SEB}
- **Diseases:** acute myeloid leukemias (MESH:D015470), leukemia (MESH:D007938), malignancy (MESH:D009369), AML-M3 (MESH:D015473), lung cancer (MESH:D008175), LUAD (MESH:D000077192), glioma (MESH:D005910)
- **Chemicals:** TTMV (-), ATO (MESH:D000077237), ATRA (MESH:D014212)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12343275/full.md

---
Source: https://tomesphere.com/paper/PMC12343275