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Can a patient with MDS have ring sideroblasts in the absence of mutation such as SF3B1?

2 Answers
Mednet Member
Mednet Member
Hematology · UMass Chan Medical School

Yes, < 50% of MDS RS have SF3B1 mutation by NGS. Malcovati et al., PMID 32347921

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Mednet Member
Mednet Member
Medical Oncology · Taussig Cancer Institute

Absolutely! While MDS with ringed sideroblasts and SF3B1 denote a special subset of MDS with ringed sideroblasts, they can also be seen with other spliceosome mutations (SRSF2, U2AF1 or ZRSR2). In one analysis, only 1.5% of patients with MDS with low blasts and ringed sideroblasts lacked a spliceoso...

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