Fine‐needle aspiration as a diagnostic technique in 50 cases of primary Ewing sarcoma/peripheral neuroectodermal tumor. Institut Curie's experience

Abstract

Fine-needle aspiration (FNA) followed by a core-needle biopsy during general anesthesia is a method for diagnosing pediatric tumors in our Institute. To complete the diagnosis in the case of round cell sarcomas, cytology material is also used for genomic analyses, that is, karyotyping and molecular biology-derived techniques. Fifty primary Ewing sarcomas/peripheral neuroectodermal tumors (ES/PNET) in 50 patients were sampled. Cytological diagnoses were "malignant" in all cases and accurate (ES/PNET) in 46 (92%). Two (4%) cases were misdiagnosed as neuroblastoma, and two others (4%) as rhabdomyosarcoma and nephroblastoma. No suspicious or false-negative results were rendered. Karyotyping was performed in 20 (40%) cases and was interpretable in 17 cases but not in three cases. Molecular search for ES/PNET fusion transcripts were performed in all cases and were detected in 44 (88%) cases, but not in six (12%) cases. In conclusion, FNA assisted by genomic techniques is powerful methods to accurate diagnose ES/PNET.

Critical Evaluation of Fine Needle Aspiration Cytology as a Diagnostic Technique in Bone Tumors and Tumor-like Lesions

“…Klijanienko et al 2012 from Institut Curie, Paris, has reported a correct cytological diagnosis of "malignant" in all cases and accurate classification in 92% cases of primary Ewing sarcomas/ peripheral neuroectodermal tumors. The precision of results offered by FNAC in Ewing sarcoma makes a highly reliable procedure in the diagnosis of such tumor (Akhtar et al, 1985).…”

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics

“…The median tumor percentages in the smears and cell blocks were 80% (range, 30-100) and 65% (range, 40-90), respectively. The median number of slides used to extract DNA was 1 for smears (range, 1-4) and 3.5 for cell blocks (range, [1][2][3][4][5][6][7][8]. The median DNA concentration for the smear and cell block samples were 0.276 ng/ml (range, 0.001-0.673) and 0.001 ng/ml (range, 0.00-0.613), respectively.…”

“…FNA procedures are included in the recommended guidelines for the diagnosis of thyroid carcinomas, 4,5 lung carcinomas 6,7 and sarcomas, such as Ewing Sarcoma/primitive neuroectodermal tumor. 8 Although the DNA yield obtained by FNA is adequate for morphological diagnosis, FNA material is not routinely processed for molecular analysis. 9 This is because mutational assessment of multiple genes by traditional sequencing platforms require a large quantity of DNA, which is often difficult to obtain by FNA.…”

The marriage of Cytology and Cytogenetics

“…In addition, conventional karyotyping is often successful and diagnostically meaningful. The detection of cytogenetic alterations by karyotype/FISH analysis can aid in providing not only a specific diagnosis for tumors like Ewing sarcoma and desmoplastic small round cell tumor, but also prognostic information for tumors like alveolar rhabdomyosarcoma 17,18 (Table 2, Fig. 3).…”