Diagnosis of thoracic SMARCA4-deficient undifferentiated tumor in cytology Journal Article
| Authors: | Kezlarian, B.; Montecalvo, J.; Bodd, F. M.; Chang, J. C.; Riedel, E.; White, C.; Rekhtman, N.; Sauter, J. L. |
| Article Title: | Diagnosis of thoracic SMARCA4-deficient undifferentiated tumor in cytology |
| 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. © 2023 The Authors. Cancer Cytopathology published by Wiley Periodicals LLC on behalf of American Cancer Society. |
| Keywords: | survival; adult; clinical article; controlled study; aged; middle aged; human cell; case control study; clinical feature; cytology; cell structure; nuclear protein; carcinoma, non-small-cell lung; lung neoplasms; aspiration; cohort analysis; genetic association; transcription factor; pathology; retrospective study; necrosis; tumor marker; transcription factors; nuclear proteins; thoracic neoplasms; lung tumor; immunophenotyping; tumor classification; cytopathology; dna helicases; tumor diagnosis; dna helicase; cytological techniques; rhabdoid tumor; small cell lung cancer; small cell lung carcinoma; non small cell lung cancer; tumor necrosis; single cell analysis; demographics; brg1 protein; smarca4 gene; clinical significance; humans; human; male; female; article; biomarkers, tumor; smarca4 protein, human; thoracic smarca4 deficient undifferentiated tumor; thoracic tumor; non–small cell lung carcinoma (nsclc); smarca4-deficient thoracic sarcomatoid tumor (sd-tst); thoracic smarca4-deficient undifferentiated tumor (tsdut); thoracic tumors |
| Journal Title: | Cancer Cytopathology |
| Volume: | 131 |
| Issue: | 8 |
| ISSN: | 1934-662X |
| Publisher: | John Wiley & Sons |
| Date Published: | 2023-08-01 |
| Start Page: | 526 |
| End Page: | 534 |
| Language: | English |
| DOI: | 10.1002/cncy.22709 |
| PUBMED: | 37278102 |
| PROVIDER: | scopus |
| PMCID: | PMC11037264 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PDF -- Corresponding author is MSK author: Jennifer L. Sauter -- Source: Scopus |
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