Related Experiment Video
Updated: Aug 9, 2026
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
SMARCA4-altered malignancies: Cytologic diagnostic challenges and clinicopathologic correlation
Behtash G Nezami1, Qiuying Shi2, Xiaoqi Lin1
1Department of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Human Pathology
|August 4, 2026
Summary
SMARCA4-altered malignancies present diverse features and poor prognosis. While SMARCA4 alterations are linked to adverse outcomes, they are not the sole cause of undifferentiated tumors.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- SMARCA4-deficient undifferentiated tumors (SMARCA4-dUT) are newly classified by the WHO.
- This study investigates the cytomorphology, management, molecular characteristics, and prognosis of cancers with SMARCA4 alterations.
Purpose of the Study:
- To characterize SMARCA4-altered malignancies.
- To correlate cytomorphology, molecular features, and clinical outcomes.
Main Methods:
- Review of cytologic slides from 34 cases with SMARCA4 alterations.
- Analysis of next-generation sequencing (NGS) and clinical data.
Main Results:
- Most tumors originated in the lung (61%) and were adenocarcinomas (70%).
- Common co-mutations included TP53 (62%), KRAS (35%), and STK11 (15%).
- High-grade tumors (93%) showed a 2-year overall survival of 49.1%, with 68% of patients being smokers.
Conclusions:
- SMARCA4-altered malignancies exhibit varied differentiation and lack specific cytomorphologic markers.
- SMARCA4 alterations correlate with poor prognosis but do not exclusively drive undifferentiated tumor formation.
