Fine‐needle aspiration of renal and extrarenal rhabdoid tumors

Abstract

BACKGROUND:Rhabdoid tumors (RT) are rare, renal or extrarenal, high‐grade malignancies. The cytologic diagnosis may be confirmed if combined with genomic results. In the current study, the authors present the cytologic and ancillary techniques used to diagnose RT in their series of 20 tumors in 13 patients.METHODS:Clinical charts as well as cytologic, histologic, karyotypic, and molecular biology results were reviewed.RESULTS:Twelve fine‐needle aspirations (FNAs) were performed for primary diagnosis, 7 were to confirm a metastasis, and 1 was to confirm local recurrence. Primary tumors were in the kidney in 7 cases and 13 were extrarenal. Patient age ranged from 5 months to 26 years. There were 7 females and 6 males. FNAs were cell‐rich in 16 cases and cell‐poor in 4 cases and revealed a mix of atypical spindle‐shaped, round, rhabdoid, or epithelioid cells, singly or in clusters. Mitosis and necrosis occasionally were present. The original cytologic diagnosis was malignant in all cases. There were no unsatisfactory or false‐negative samples. In the 12 primary tumors, the preliminary FNA diagnosis was RT in 7 cases (58%), rhabdomyosarcoma in 4 cases (33%), and malignant peripheral nerve sheath tumor in 1 case (8%). Karyotypes were available in 6 cases, 3 of which demonstrated chromosome 22 changes. Fluorescence in situ hybridization revealed loss of probe signals for the SMARCB1 gene locus in 5 cases; DNA sequence analysis performed in 9 cases revealed deletions in codons of the SMARCB1 gene in 7 cases and a mutation in 2 cases.CONCLUSIONS:The primary diagnosis of RT is possible on FNA. In the current study, 12 of 13 cases were diagnosed by FNA with a combination of clinical information, immunocytochemistry, and molecular analysis. Cancer (Cancer Cytopathol) 2010;. © 2010 American Cancer Society

Cytologic Features of SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Comparison with Other SWI/SNF Complex-Deficient Tumors

“…This revealed that SMARCA4-DTS shares many cytomorphologic features with proximal-type epithelioid sarcomas [8-11], MRT [12-15], and SCCOHT [16-20]. In the latter tumors, smears are generally highly cellular and composed of numerous round-to-polygonal cells that appear as single cells or in loose clusters without structures.…”

“…Moreover, rhabdoid cells or cells with perinuclear hyaline inclusions have been frequently noted in these 3 neoplasms [8, 9, 11, 12, 14-16, 18, 20]. Perinuclear cytoplasmic densities (denser in the inner area than in the periphery) have also been noted [9, 15]. Consequently, it can be concluded that SWI/SNF complex deficiency results in the common cytomorphologic changes into undifferentiated epithelioid cells with decreased cohesiveness, with occasional cells showing rhabdoid features.…”

Mesenchymal tumours of the mediastinum—part II

“…The SMARCB1 (INI1) gene, located on chromosome 22q11, is mutated or deleted in ERRT. Despite its rarity in somatic soft tissue, several cases, mainly included in series, have been reported in the mediastinum [ 73 , 155 , 158 , 198 ]. All five patients with sufficient clinical details died of disease.…”

Fine‐needle aspiration in desmoplastic small round cell tumor: A report of 10 new tumors in 8 patients with clinicopathological and molecular correlations with review of the literature

“…Densities were dark, well‐delineated, and similar to apoptotic bodies. They stained positively for keratin (AE1/AE3 or KL1) and desmin (immunocytochemistry was performed on smears in case #2 according to a previously reported technique). Cytonuclear atypia, mitotic figures, and apoptotic bodies were frequently seen, as well as numerous crushed nuclei.…”

“…Tubes were immediately transported to the genetics laboratory for a cell count. If the sample contained fewer than 5 million cells, the cell suspension was used for RT‐PCR analysis, as previously described …”