Fine‐needle aspiration biopsy of alveolar rhabdomyosarcoma of stensen's duct: A case report and review of the literature

Nunez, Amberly L.; Elgin, J.N.; Fatima, Huma

doi:10.1002/dc.23084

Cited by 2 publications

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“…Notwithstanding the various carcinomas and lymphomas having basaloid and/ or small cell morphology, several mesenchymal neoplasms need to be considered. Although rare, FNAs of desmoplastic small round cell tumor, 64,65 rhabdomyosarcoma, 17,57,66,67 and Ewing sarcoma 68 have all been reported in the PG.…”

Section: Discussionmentioning

confidence: 99%

Mesenchymal neoplasms of the parotid gland and parapharyngeal space: an FNA cytologic study of 22 nonlipomatous tumors

Wakely

2022

Cancer Cytopathology

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BACKGROUND Mesenchymal neoplasms of the parotid gland (PG) and para‐pharyngeal (PP) space are distinctly uncommon. Fine‐needle aspiration (FNA) biopsy experience with nonlipomatous neoplasms from this site is reviewed. METHODS Cytopathology and surgical pathology files were examined for mesenchymal PG and PP space neoplasms. FNA biopsy was performed using standard technique. RESULTS Twenty‐two PG and/or PP aspirates from 20 adults (male:female = 1.1:1; age range, 19‐84 years, mean age, 50 years) and a 10‐week‐old infant met inclusion criteria. Biopsy sites included PG (17, 77%) or PP space (5, 23%). Five of 6 malignant neoplasms (83%) were called malignant cytologically. Only 7 of 11 (63%) benign neoplasms were recognized as a benign neoplasm. None of 5 solitary fibrous tumor (SFT) cases were correctly recognized. Conversion to the Milan classification showed 8 (36%) FNA cases diagnosed as benign neoplasm, 6 (27%) malignant neoplasm, 4 (18%) neoplasm of uncertain malignant potential, 2 (9%) nondiagnostic, and single cases of suspicious for malignancy and nonneoplastic. There was 1 false‐positive and no false‐negative FNA diagnoses. Ancillary testing in 10 (45%) aspirates helped substantiate a correct specific diagnosis in 3 malignant and 3 benign cases. CONCLUSIONS FNA biopsy of nonlipomatous mesenchymal SG neoplasms is particularly challenging. Less than half (9 of 11, 41%) had specific FNA diagnoses that correctly matched the tissue diagnoses or clinical outcome. Accurate Milan categorization was superior for malignant neoplasms (5 of 6, 83%) in contrast to benign neoplasms (7 of 11, 63%), or neoplasms of uncertain malignant potential (SFT) (2 of 5, 40%).;

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Section: Discussionmentioning

confidence: 99%

Mesenchymal neoplasms of the parotid gland and parapharyngeal space: an FNA cytologic study of 22 nonlipomatous tumors

Wakely

2022

Cancer Cytopathology

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Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

et al. 2017

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BackgroundThe organisation of vertebrate genomes into topologically associating domains (TADs) is believed to facilitate the regulation of the genes located within them. A remaining question is whether TAD organisation is achieved through the interactions of the regulatory elements within them or if these interactions are favoured by the pre-existence of TADs. If the latter is true, the fusion of two independent TADs should result in the rewiring of the transcriptional landscape and the generation of ectopic contacts.ResultsWe show that interactions within the PAX3 and FOXO1 domains are restricted to their respective TADs in normal conditions, while in a patient-derived alveolar rhabdomyosarcoma cell line, harbouring the diagnostic t(2;13)(q35;q14) translocation that brings together the PAX3 and FOXO1 genes, the PAX3 promoter interacts ectopically with FOXO1 sequences. Using a combination of 4C-seq datasets, we have modelled the three-dimensional organisation of the fused landscape in alveolar rhabdomyosarcoma.ConclusionsThe chromosomal translocation that leads to alveolar rhabdomyosarcoma development generates a novel TAD that is likely to favour ectopic PAX3:FOXO1 oncogene activation in non-PAX3 territories. Rhabdomyosarcomas may therefore arise from cells which do not normally express PAX3. The borders of this novel TAD correspond to the original 5'- and 3'- borders of the PAX3 and FOXO1 TADs, respectively, suggesting that TAD organisation precedes the formation of regulatory long-range interactions. Our results demonstrate that, upon translocation, novel regulatory landscapes are formed allowing new intra-TAD interactions between the original loci involved.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-017-1225-z) contains supplementary material, which is available to authorized users.

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Fine‐needle aspiration biopsy of alveolar rhabdomyosarcoma of stensen's duct: A case report and review of the literature

Cited by 2 publications

References 20 publications

Mesenchymal neoplasms of the parotid gland and parapharyngeal space: an FNA cytologic study of 22 nonlipomatous tumors

Mesenchymal neoplasms of the parotid gland and parapharyngeal space: an FNA cytologic study of 22 nonlipomatous tumors

Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

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