Thoracic SMARCA4-deficient undifferentiated tumour
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Thoracic SMARCA4-deficient undifferentiated tumour is poorly differentiated malignancy of the thorax.[1]
General
- It was debated whether it is a poorly differentiated carcinoma or a sarcoma.[2]
- WHO recognized entity as of 2021.[3]
- Strong association with smoking.[4]
Gross
- Central location.
- Classically, SMARCA4-deficient non-small cell lung carcinoma is peripheral.[5]
Microscopic
Features:
- Poorly differentiated malignancy.
- +/-Rhabdoid morphology.
DDx:
- SMARCA4-deficient non-small cell lung carcinoma.
- Large cell Lymphomas.
- Small cell carcinoma of the lung.
- Basaloid squamous cell carcinoma.
- Other small round blue cell tumours.
IHC
- SMARCA4 (BRG1) loss (~75% of cases) or strongly reduced (~25% of cases) - definitional.
- AE1/AE3 -ve or focal.
- Synaptophysin +ve.
- Chromogranin -ve.
- SALL4 +ve.[6]
- SOX2 +ve.[6]
See also
References
- ↑ Shinno Y, Ohe Y (March 2024). "Thoracic SMARCA4-deficient undifferentiated tumor: current knowledge and future perspectives". Jpn J Clin Oncol 54 (3): 265–270. doi:10.1093/jjco/hyad175. PMID 38117955.
- ↑ Rekhtman N, Montecalvo J, Chang JC, Alex D, Ptashkin RN, Ai N, Sauter JL, Kezlarian B, Jungbluth A, Desmeules P, Beras A, Bishop JA, Plodkowski AJ, Gounder MM, Schoenfeld AJ, Namakydoust A, Li BT, Rudin CM, Riely GJ, Jones DR, Ladanyi M, Travis WD (February 2020). "SMARCA4-Deficient Thoracic Sarcomatoid Tumors Represent Primarily Smoking-Related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas". J Thorac Oncol 15 (2): 231–247. doi:10.1016/j.jtho.2019.10.023. PMC 7556987. PMID 31751681. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556987/.
- ↑ "Thoracic SMARCA4-deficient undifferentiated tumor: A clinicopathological and prognostic analysis of 35 cases and immunotherapy efficacy". Lung Cancer 189: 107471. March 2024. doi:10.1016/j.lungcan.2024.107471. PMID 38306886.
- ↑ Kim JH, Woo JH, Lim CY, An T, Han J, Chung MJ, Cha YK (March 2024). "SMARCA4-deficient non-small cell lung carcinoma: clinicodemographic, computed tomography, and positron emission tomography-computed tomography features". J Thorac Dis 16 (3): 1753–1764. doi:10.21037/jtd-23-1606. PMC 11009581. PMID 38617754. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11009581/.
- ↑ Kim JH, Woo JH, Lim CY, An T, Han J, Chung MJ, Cha YK (March 2024). "SMARCA4-deficient non-small cell lung carcinoma: clinicodemographic, computed tomography, and positron emission tomography-computed tomography features". J Thorac Dis 16 (3): 1753–1764. doi:10.21037/jtd-23-1606. PMC 11009581. PMID 38617754. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11009581/.
- ↑ 6.0 6.1 Das S, Mishra P, Ahlawat S (December 2025). "Clinicopathological and molecular perspectives on thoracic SMARCA4-deficient undifferentiated tumors and SMARCA4-deficient non-small cell lung carcinomas". Pathologica 117 (5): 455–467. doi:10.32074/1591-951X-1272. PMC 12743361. PMID 41454764. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12743361/.