- •t(8;22)/BCR-FGFR1 rearrangement is a rare genetic abnormality identified in a case of myeloid/lymphoid neoplasms with FGFR1 rearrangement.
- •Sorafenib in combination with Azacytidine could be effective in patients with sole t(8;22)/BCR-FGFR1 rearrangement as complete haematological response was observed in our case.
- •Combination of Sorafenib and Azacytidine treatment can help in management of patients with sole t(8;22)/BCR-FGFR1 rearrangement where targeted therapy or HSCT transplantation is not possible.
The sole t(8;22)(p11.2;q11.2)/BCR- FGFR1 chromosomal abnormality formerly known as aCML is an extremely rare disease entity with a history of rapid progression. Though patients resemble phenotypically chronic myeloid leukemia, the treatment of patients with sole BCR-FGFR1 rearrangement are still challenging for clinicians due to rapid progressive nature and unavailability of uniform treatment guidelines. In present case study, we describe a case of myeloid neoplasm with sole chromosomal abnormality of t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement which is successfully managed by Sorafenib with Azacitidine. Hence our case report suggests that combination of Sorafenib and Azacitidine treatment is effective in sole BCR-FGFR1 rearrangement, however this combination therapy should be studied in large clinical trials.
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Published online: March 17, 2023
Accepted: March 16, 2023
Received in revised form: January 23, 2023
Received: May 25, 2022
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