Three shades of an unusual mediastinal tumour.
SWI-SNF complex
endobronchial ultrasound-guided transbronchial needle aspiration (EBUS TBNA)
endobronchial ultrasound-guided transbronchial needle biopsy (EBUS TBNB)
mediastinum
thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT)
Journal
Diagnostic cytopathology
ISSN: 1097-0339
Titre abrégé: Diagn Cytopathol
Pays: United States
ID NLM: 8506895
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
revised:
27
07
2023
received:
19
03
2023
accepted:
31
07
2023
medline:
3
10
2023
pubmed:
17
8
2023
entrez:
17
8
2023
Statut:
ppublish
Résumé
Thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) is an unusual and aggressive tumour. While there are approximately 100 cases of this tumour reported in the literature, there are very few detailed descriptions of its cytomorphologic characteristics, and only rare cases in which primary diagnosis was made on cytologic material. Herein we present a case with a detailed description of the appearance on three specimen types: transbronchial needle aspiration (TBNA) cytology, transbronchial needle biopsy (TBNB) and effusion cytology. Thoracic SMARCA4-UT is an important diagnosis to clinch in modern pathology because of its prognostic and therapeutic implications. We discuss an integrated approach to clinching the diagnosis with reference to clinical, radiographic, morphologic and immunohistochemical features. We also discuss possible differential diagnoses, and how they can be excluded. Cytologic and/or small biopsy diagnosis is valuable in these cases as these tumours are typically not amenable to surgical resection. With the correct diagnosis, the patient may instead be a candidate for immune checkpoint inhibitors or experimental therapy targeting SWI/SNF deficiency.
Substances chimiques
SMARCA4 protein, human
EC 3.6.1.-
DNA Helicases
EC 3.6.4.-
Nuclear Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
716-723Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Marshall M, Khader S, Beasley S, Lajara S. Thoracic SMARCA4-deficient undifferentiated tumor with associated granulomatous reaction and response to pembrolizumab. Diagn Cytopathol. 2023. Epub ahead of print.
Roy-Chowdhuri S, Dacic S, Ghofrani M, et al. Collection and handling of thoracic small biopsy and cytology specimens for ancillary studies: guideline from the College of American Pathologists in collaboration with the American College of Chest Physicians, Association for Molecular Pathology, American Society of Cytopathology, American Thoracic Society, pulmonary pathology society, Papanicolaou Society of Cytopathology, Society of Interventional Radiology, and Society of Thoracic Radiology. Arch Pathol Lab Med. 2020;144(8):933-958.
Zhao X, Boothe P, Naqvi SM, et al. Assessing ROSE for adequacy of EBUS-TBNA compared with a direct-to-cell block approach as a response to the COVID-19 pandemic. J Am Soc Cytopathol. 2022;11(6):368-374.
Gopakumar A, Kakkar A, Kaur K, et al. Fine needle aspiration cytology of metastatic SMARCA4-deficient sinonasal teratocarcinosarcoma: first report in literature. Diagn Cytopathol. 2023;51(4):E129-E136.
Kilic AI, Mirza K, Mehrotra S, Pambuccian SE. A BAFfling liver aspirate: metastatic high grade SMARCA4 deficient undifferentiated gastroesophageal junction carcinoma masquerading as a hematolymphoid malignancy. Diagn Cytopathol. 2019;47(7):725-732.
Le Loarer F, Watson S, Pierron G, et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet. 2015;47(10):1200-1205.
Rekhtman N, Montecalvo J, Chang JC, et al. SMARCA4-deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas. J Thorac Oncol. 2020;15(2):231-247.
WHO Classification of Tumours Editorial Board. Thoracic Tumours. Vol 5. 5th ed. International Agency for Research on Cancer; 2021. (WHO classification of tumours series https://publications.iarc.fr/595
Sesboue C, Le Loarer F. SWI/SNF-deficient thoraco-pulmonary neoplasms. Semin Diagn Pathol. 2021;38(3):183-194. WB Saunders., 38, 183, 194.
Nambirajan A, Jain D. Recent updates in thoracic SMARCA4-deficient undifferentiated tumor. Semin Diagn Pathol. 2021;38(5):83-89. WB Saunders, 38, 83, 89.
Nambirajan A, Dutta R, Malik PS, Bubendorf L, Jain D. Cytology of SMARCA4-deficient thoracic neoplasms: comparative analysis of SMARCA4-deficient non-small cell lung carcinomas and SMARCA4-deficient thoracic sarcomas. Acta Cytol. 2021;65(1):67-74.
Matsushita M, Kuwamoto S. Cytologic features of SMARCA4-deficient thoracic sarcoma: a case report and comparison with other SWI/SNF complex-deficient tumors. Acta Cytol. 2018;62(5-6):456-462.
Minoshima A, Sugita S, Segawa K, et al. Usefulness of cell block examination for the cytological diagnosis of thoracic SMARCA4-deficient undifferentiated tumor: a case report. Diagn Cytopathol. 2023;51(5):E149-E154.
Iwakoshi A, Sasaki E, Sato M, et al. Thoracic SMARCA2-deficient but SMARCA4-preserved tumors with undifferentiated morphology combined with claudin-4 negativity. Am J Surg Pathol. 2022;46(7):1000-1006.
Early CA, Wangsiricharoen S, Jones RM, VandenBussche CJ. Review of SMARCA4 (BRG1)-deficient carcinomas following a malignant pleural effusion specimen confounded by reduced claudin-4 expression. J Am Soc Cytopathol. 2021;10(2):197-207.
Kezlarian B, Montecalvo J, Bodd FM, et al. Diagnosis of thoracic SMARCA4-deficient undifferentiated tumor in cytology. Cancer Cytopathol. 2023;131:526-534.
Takeda M, Tani Y, Saijo N, et al. Cytopathological features of SMARCA4-deficient thoracic sarcoma: report of 2 cases and review of the literature. Int J Surg Pathol. 2020 Feb;28(1):109-114.