Evidence map›Paper›PMID 41266899›Full record

ArticleJournal of hematopathology2025

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

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

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Article in Journal of hematopathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Xianqi Feng *Department of Hematology, Affiliated Hospital of Qingdao University, Qingdao, 266011, China.
Xueting Bai *Department of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Hong ZhangDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Yani LinDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Long ChenDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Huilan LiDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Enbin LiuDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Xin TianDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Xiaoju HouDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China.
Shaobin YangDepartment of Cytogenetics, Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-Aided Hematopathology Diagnosis, 5 Xinghua No. 3 Branch Road, Tianjin, China. hbyangshaobin@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

EosinophiliaGene RearrangementMyeloproliferative DisordersOncogene Proteins, FusionReceptor, Fibroblast Growth Factor, Type 1RNA SplicingAdultHumansMaleTranslocation, GeneticFGFR1 protein, humanOncogene Proteins, FusionReceptor, Fibroblast Growth Factor, Type 1CNTRL::FGFR1EosinophiliaMLN-FGFR1t(8;9)

Identifiers

PMID41266899

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