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Case Report| Volume 274, P26-29, June 2023

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Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement

      Highlights

      • 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.

      Abstract

      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.

      Keywords

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