ClinVar Miner

Submissions for variant NM_001987.5(ETV6):c.33+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wasik Lab, Fox Chase Cancer Center RCV003318466 SCV004020302 likely pathogenic Malignant lymphoma, large B-cell, diffuse 2023-07-25 no assertion criteria provided clinical testing This variant was observed in a patient with DLBCL that presented in leukemic form, best classified as MCD/C5 DLBCL, an ABC subtype. Despite an initial good clinical response to BTK inhibitor ibrutinib, anti-CD20 antibody rituxan, alkylating agent bendamustine, and hematopoietic stem-cell transplant, the lymphoma relapsed, accompanied by morphologic and molecular evidence of disease progression. ETV6 is a transcription factor with a critical role in hematopoiesis and embryonic development, frequently mutated in hematologic malignancies. ETV6 c.33+1G>A was present at initial presentation, but was not detected in relapsed tumor. This variant changes a consensus splice donor site and is expected to affect protein structure. Although alterations in ETV6 are one of the hallmark features of the MCD/C5 group, its oncogenic role in DLBCL remains undefined (Marino et al. 2022).

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