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8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report

Jing Jing Liu1, Li Meng1

  • 1Department of Hematology, Tongji Hospital of Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.

Experimental and Therapeutic Medicine
|August 18, 2018
PubMed

Insights

8p11 myeloproliferative syndrome (EMS) involves FGFR1 gene translocations. A rare case with a BCR/FGFR1 fusion gene presented with slow progression, mimicking chronic myeloid leukemia (CML).

Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • 8p11 myeloproliferative syndrome (EMS) is a rare, aggressive hematologic disorder.
  • It is characterized by chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) gene at chromosome 8p11.
  • The clinical presentation of EMS is influenced by the specific partner gene fused with FGFR1.

Purpose of the Study:

  • To present a unique case of 8p11 myeloproliferative syndrome (EMS).
  • To highlight the diagnostic and clinical features of a specific BCR/FGFR1 fusion gene.
  • To discuss the atypical slow progression observed in this EMS case.

Main Methods:

  • Karyotype analysis to determine chromosomal abnormalities.
  • Identification of the specific translocation t(8;22)(p11;q11).
  • Molecular analysis to confirm the BCR/FGFR1 fusion gene.

Main Results:

  • A case of EMS with the karyotype 46,XY,t(8;22)(p11;q11) was identified.
  • The translocation resulted in the formation of a BCR/FGFR1 fusion gene.
  • The patient exhibited a slow disease progression, clinically resembling chronic myeloid leukemia (CML).

Conclusions:

  • The diagnosis of EMS relies heavily on chromosome karyotype determination.
  • Allogeneic hematopoietic stem cell transplantation remains the optimal treatment for EMS.
  • This case underscores the variability in EMS clinical presentation and progression.
Keywords:
8p11 myeloidproliferative syndromechronic myeloid leukemiafibroblast growth factor receptor 1

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