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<p><b>Background&#xa0;</b>Myeloid/lymphoid neoplasm with eosinophilia and rearrangement of <i>FGFR1</i>(MLN-<i>FGFR1</i>), also referred to as 8p11 myeloproliferative syndrome (EMS), arises from aberrant <i>FGFR1</i> gene rearrangement in bone marrow hematopoietic stem cells, resulting in the transformation of myeloid/lymphoid cells into neoplastic growths. The clinical and laboratory features of affected individuals are influenced by the specific partner genes. <b>Purpose&#xa0;</b>This article aims to report a case of MLN-<i>FGFR1</i> involving a novel <i>CNTRL</i>::<i>FGFR1</i> splicing variant and to discuss its clinicopathological characteristics and treatment challenges.&#xa0;<b>Methods/</b><b>Results&#xa0;</b>We report a case of MLN-<i>FGFR1</i> in a 35-year-old male patient presenting with leukocytosis, lymphadenopathy, hepatosplenomegaly, and a mixed population of B lymphoblasts, T lymphoblasts, and monoblasts in the bone marrow and lymph nodes. Comprehensive molecular profiling, including chromosomal karyotyping, fluorescence in situ hybridization (FISH), targeted transcriptome sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing, identified a novel splicing variant of the <i>CNTRL</i>::<i>FGFR1</i> fusion, resulting from a t(8;9)(p11;q33) translocation. This novel splicing variant involves an in-frame fusion between exon 38 of <i>CNTRL</i> and exon 11 of <i>FGFR1</i>, retaining the kinase domain of <i>FGFR1</i> and leading to its constitutive activation. Despite multiple treatment regimens, the patient failed to achieve complete remission (CR).&#xa0;<b>Conclusion</b> The findings highlight the urgent need for targeted therapies, such as <i>FGFR</i> inhibitors, to improve outcomes in patients with <i>FGFR1</i>-rearranged malignancies.</p>

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A novel splicing variant of CNTRL::FGFR1 in myeloid/lymphoid neoplasm with eosinophilia and rearrangement of FGFR1

  • 期刊论文

  • 发表日期：

    2025年11月20日

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  • Xianqi Feng,
  • Xueting Bai,
  • Hong Zhang,
  • Yani Lin,
  • Long Chen,
  • Huilan Li,
  • Enbin Liu,
  • Xin Tian,
  • Xiaoju Hou,
  • Shaobin Yang

摘要

Background Myeloid/lymphoid neoplasm with eosinophilia and rearrangement of FGFR1(MLN-FGFR1), also referred to as 8p11 myeloproliferative syndrome (EMS), arises from aberrant FGFR1 gene rearrangement in bone marrow hematopoietic stem cells, resulting in the transformation of myeloid/lymphoid cells into neoplastic growths. The clinical and laboratory features of affected individuals are influenced by the specific partner genes. Purpose This article aims to report a case of MLN-FGFR1 involving a novel CNTRL::FGFR1 splicing variant and to discuss its clinicopathological characteristics and treatment challenges. Methods/Results We report a case of MLN-FGFR1 in a 35-year-old male patient presenting with leukocytosis, lymphadenopathy, hepatosplenomegaly, and a mixed population of B lymphoblasts, T lymphoblasts, and monoblasts in the bone marrow and lymph nodes. Comprehensive molecular profiling, including chromosomal karyotyping, fluorescence in situ hybridization (FISH), targeted transcriptome sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing, identified a novel splicing variant of the CNTRL::FGFR1 fusion, resulting from a t(8;9)(p11;q33) translocation. This novel splicing variant involves an in-frame fusion between exon 38 of CNTRL and exon 11 of FGFR1, retaining the kinase domain of FGFR1 and leading to its constitutive activation. Despite multiple treatment regimens, the patient failed to achieve complete remission (CR). Conclusion The findings highlight the urgent need for targeted therapies, such as FGFR inhibitors, to improve outcomes in patients with FGFR1-rearranged malignancies.