A Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms

Palsgrove, Doreen N.; Manucha, Varsha; Park, Jason; Bishop, Justin A.

doi:10.1007/s12105-023-01527-z

Cited by 5 publications

(1 citation statement)

References 22 publications

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“…Other reported cancers with EWSR1::BEND2 include rare pancreatic neuroendocrine tumors, one case of a pancreas islet cell tumor, salivary carcinomas, and one case of an atypical carcinoid tumor of the lung [23,[45][46][47] (Table S1). Regarding sarcoma, only one case with this fusion has been documented, a sinonasal spindle cell tumor, which exhibited histomorphological characteristics very similar to the case we have reported here [48] (Table S1). Additionally, a reported case of a soft-tissue tumor in the abdominal wall with the MN1::BEND2 fusion presented a similar morphology as well [49].…”

Section: Discussionsupporting

confidence: 69%

Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms

Salguero-Aranda,

Di Blasi,

Galán

et al. 2024

IJMS

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Recurrent gene fusions (GFs) in translocated sarcomas are recognized as major oncogenic drivers of the disease, as well as diagnostic markers whose identification is necessary for differential diagnosis. EWSR1 is a ‘promiscuous’ gene that can fuse with many different partner genes, defining different entities among a broad range of mesenchymal neoplasms. Molecular testing of EWSR1 translocation traditionally relies on FISH assays with break-apart probes, which are unable to identify the fusion partner. Therefore, other ancillary molecular diagnostic modalities are being increasingly adopted for accurate classification of these neoplasms. Herein, we report three cases with rare GFs involving EWSR1 in undifferentiated mesenchymal neoplasms with uncertain differential diagnoses, using targeted RNA-seq and confirming with RT-PCR and Sanger sequencing. Two GFs involved hormone nuclear receptors as 3′ partners, NR4A2 and RORB, which have not been previously reported. NR4A2 may functionally replace NR4A3, the usual 3′ partner in extraskeletal myxoid chondrosarcoma. The third GF, EWSR1::BEND2, has previously been reported in a subtype of astroblastoma and other rare entities, including a single case of a soft-tissue tumor that we discuss in this work. In conclusion, our findings indicate that the catalogue of mesenchymal neoplasm-bearing EWSR1 fusions continues to grow, underscoring the value of using molecular ancillary techniques with higher diagnostic abilities in the routine clinical setting.

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Section: Discussionsupporting

confidence: 69%

Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms

Salguero-Aranda,

Di Blasi,

Galán

et al. 2024

IJMS

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Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion

Dashti,

Matcuk,

Agaimy

et al. 2024

Genes Chromosomes & Cancer

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Conventional high‐grade osteosarcomas are characterized by aggressive radiologic features, cytologic pleomorphism, and complex genomics. However, rare examples of osteosarcomas remain challenging due to unusual histology, such as sclerosing or osteoblastoma‐like features, which may require molecular confirmation of their complex genetic alterations. We have encountered such a case in a 17‐year‐old man, who presented with a third metatarsal sclerotic bone lesion, found incidentally in the work‐up of a foot trauma. The initial imaging revealed a lesion with sclerotic/blastic features proximally and lucent/lytic portion distally, findings interpreted consistent with osteoblastoma. The lesion was managed intra‐lesionally with curettings and cryoablation; however, the microscopic findings were non‐specific, showing a bland osteoblastic proliferation embedded in a densely sclerotic matrix. Subsequently, the patient developed two rapid recurrences; the first recurrence was treated similarly despite its associated soft tissue extension radiographically, and the histologic findings remained non‐specific. The 2nd recurrence showed a large mass, with bone destruction and soft tissue extension and an open biopsy revealed features of osteosarcoma with lace‐like osteoid deposition, albeit with uniform cytomorphology. The subsequent below knee amputation showed features compatible with high‐grade osteosarcoma, including solid growth of uniform epithelioid cells, with vesicular nuclei and scant cytoplasm, set in a lace‐like meshwork of osteoid matrix. There was significant mitotic activity and tumor necrosis. Tumor cells were positive for SATB2. Further molecular work‐up was performed showing an unexpected NIPBL::BEND2 fusion, which has been previously reported in two cases of phosphaturic mesenchymal tumor (PMT). FGF23 (ISH) was performed and was negative. By DNA methylation profiling, unsupervised clustering and UMAP dimensionality reduction revealed grouping with high‐grade osteosarcomas and not with the PMT group. The patient received chemotherapy post‐amputation and is alive without evidence of disease, with 10‐month follow‐up. We report an aggressive, overtly malignant acral bone‐forming tumor, harboring a NIPBL::BEND2 fusion. Further studies are needed to evaluate the recurrent potential of this fusion in osteosarcomas and its relationship with PMT.

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Malignant Salivary Gland Neoplasm of the Tongue Base with EWSR1::BEND2 Fusion: An Unusual Case with Literature Review

Zhang,

Sun,

et al. 2024

Head and Neck Pathol

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A Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms

Cited by 5 publications

References 22 publications

Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms

Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms

Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion

Malignant Salivary Gland Neoplasm of the Tongue Base with EWSR1::BEND2 Fusion: An Unusual Case with Literature Review

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