Article ; Online: Diagnosis of thoracic SMARCA4-deficient undifferentiated tumor in cytology.
2023 Volume 131, Issue 8, Page(s) 526–534
Abstract: Introduction: Although alterations in SMARCA4-deficient occur in non-small cell lung carcinoma (SD-NSCLC), thoracic SMARCA4-deficient undifferentiated tumor (TSDUT) is recognized as a distinct entity in the 2021 World Health Organization Classification ... ...
Abstract | Introduction: Although alterations in SMARCA4-deficient occur in non-small cell lung carcinoma (SD-NSCLC), thoracic SMARCA4-deficient undifferentiated tumor (TSDUT) is recognized as a distinct entity in the 2021 World Health Organization Classification of Thoracic Tumors because of unique morphologic, immunophenotypic and molecular features, and worse survival compared with SD-NSCLC. Cytologic diagnosis of TSDUT is clinically important because of its aggressive behavior and because it is often diagnosed by fine-needle aspiration because TSDUTs are usually unresectable at presentation. Here, we identify cytologic features that can be used for recognition of TSDUT and distinction from SD-NSCLC. Materials and methods: Cytomorphologic features were investigated in cytology specimens from patients with TSDUT (n = 11) and compared with a control group of patients with SD-NSCLC (n = 20). Results: The presence of classic rhabdoid morphology, at least focally, was entirely specific for TSDUT (n = 6, 55%) compared with SD-NSCLC (n = 0) in this study. TSDUT more frequently showed tumor necrosis (n = 11, 100% vs. n = 8, 40%; p = .001), dominant single-cell pattern on aspirate smears or touch preparation slides (n = 8 [of 9], 80% vs. n = 3, 15%; p = .010), nuclear molding (n = 5, 45% vs. n = 1, 5%; p = .013), and indistinct cell borders (n = 11, 100% vs. n = 5, 25%; P < .001) compared with SD-NSCLC, respectively. Conclusions: Cytomorphologic features occurring more frequently in TSDUT include tumor necrosis, dominant single-cell pattern, nuclear molding indistinct cell borders, and focal rhabdoid cells. Presence of these features in a cytology specimen of an undifferentiated tumor, particularly in a patient with a thoracic mass, should raise suspicion for TSDUT and prompt appropriate ancillary workup. |
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MeSH term(s) | Humans ; Carcinoma, Non-Small-Cell Lung/diagnosis ; Thoracic Neoplasms/diagnosis ; Thoracic Neoplasms/pathology ; Cytological Techniques ; Small Cell Lung Carcinoma ; Lung Neoplasms/diagnosis ; Necrosis ; Biomarkers, Tumor ; DNA Helicases ; Nuclear Proteins ; Transcription Factors |
Chemical Substances | Biomarkers, Tumor ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; Nuclear Proteins ; Transcription Factors |
Language | English |
Publishing date | 2023-06-06 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 2594979-2 |
ISSN | 1934-6638 ; 1934-662X |
ISSN (online) | 1934-6638 |
ISSN | 1934-662X |
DOI | 10.1002/cncy.22709 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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