A case of intracranial myxoid mesenchymal tumor with EWSR1:CREM fusion in an adult female: Extensive immunohistochemical evaluation

Abstract

Further studies are needed to elucidate the histopathological concept, long-term prognosis, optimal treatment strategy, and factors associated with the prognosis and therapeutic options of this condition.

Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: A unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors

“…The cells also showed features of senescence indicating that the chimeric protein plays an important role in the tumorigenesis 37 . The gene fusion has been detected in many phenotypically diverse epithelial and mesenchymal tumors including hyalinizing clear cell tumors of oropharynx, buccal clear cell carcinoma, abdominal epithelioid neoplasms, pulmonary mesenchymal neoplasm, clear cell odontogenic neoplasm, angiomatoid fibrous histiocytoma, myxoid mesenchymal tumors, and others 12–27 . Table 1 summarizes reported cases with the EWSR1::CREM gene rearrangement.…”

“… 37 The gene fusion has been detected in many phenotypically diverse epithelial and mesenchymal tumors including hyalinizing clear cell tumors of oropharynx, buccal clear cell carcinoma, abdominal epithelioid neoplasms, pulmonary mesenchymal neoplasm, clear cell odontogenic neoplasm, angiomatoid fibrous histiocytoma, myxoid mesenchymal tumors, and others. 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 Table 1 summarizes reported cases with the EWSR1::CREM gene rearrangement. The prognostic significance of the fusion product is not known in all tumors.…”

“…10 On the other hand, CREM gene rearrangements are relatively novel and infrequent, compared to other members of the CREB transcription factors (inclusive of ATF1 and CREB1), and occur commonly in partnership with EWSR1. 9,11 They have been reported in a variety of unrelated phenotypical diverse epithelial and mesenchymal tumors with differing prognosis including: hyalinizing clear cell tumors of oral cavity and oropharynx, myxoid mesenchymal tumors, angiomatoid fibrous histiocytoma, abdominal epithelioid neoplasm, spindle/small cell carcinoma, clear cell odontogenic neoplasm, and pulmonary mesenchymal neoplasm [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] Herein, we report for the first time, a unique case of a metastatic sporadic paraganglioma harboring a unique EWSR1::CREM gene fusion, in a 36 year old male. To the best of our knowledge, this is the first case of metastatic paraganglioma harboring the EWSR1::CREM gene fusion.…”

“… 10 On the other hand, CREM gene rearrangements are relatively novel and infrequent, compared to other members of the CREB transcription factors (inclusive of ATF1 and CREB1 ), and occur commonly in partnership with EWSR1 . 9 , 11 They have been reported in a variety of unrelated phenotypical diverse epithelial and mesenchymal tumors with differing prognosis including: hyalinizing clear cell tumors of oral cavity and oropharynx, myxoid mesenchymal tumors, angiomatoid fibrous histiocytoma, abdominal epithelioid neoplasm, spindle/small cell carcinoma, clear cell odontogenic neoplasm, and pulmonary mesenchymal neoplasm 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 …”

Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL‐6/STAT3 signaling

“…Sixteen cases of IMT or AFH with EWSR1:: CREM gene fusions have been reported (seven in males and eight in females; age range: 5 to 65 years) (Table 2). [12][13][14][15][16][17][18][19][20][21][22] The tumors were located in the meninges, frontal lobe, and posterior fossa. Tumor size ranged from 15 Â 19 Â 17 mm (the present case) to 60 Â 20 mm (diameter).…”