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Molecular monitoring of 8p11 myeloproliferative syndrome in an infant
Wenyong W Zhang1, Sultan Habeebu, Andrea M Sheehan
1Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
Abstract:
The 8p11 myeloproliferative syndrome is a rare hematologic malignancy derived from a pluripotent hematopoietic stem cell associated with rearrangements involving the fibroblast growth factor receptor 1 (FGFR1) gene located on chromosome 8p11. The most common translocation, t(8;13) (p11;q13), results in a ZNF198-FGFR1 fusion gene and constitutively active FGFR1 tyrosine kinase activity. Typical pathologic findings include myeloid hyperplasia, lymphadenopathy, precursor T-lymphoblastic lymphoma, and eosinophilia. The disease is usually associated with an aggressive course and progression to acute myeloid leukemia is frequent. We report here the first case of 8p11 myeloproliferative syndrome in an infant and demonstrate the value of molecular testing in the diagnosis and minimal disease monitoring of this rare disease.
Insights
The 8p11 myeloproliferative syndrome, a rare cancer, was diagnosed in an infant. Molecular testing proved vital for diagnosis and monitoring this aggressive hematologic malignancy.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- 8p11 myeloproliferative syndrome (EMS) is a rare hematologic malignancy.
- It originates from pluripotent hematopoietic stem cells.
- Rearrangements involving the fibroblast growth factor receptor 1 (FGFR1) gene at 8p11 are characteristic.
Observation:
- The most frequent genetic alteration is the t(8;13) translocation, creating the ZNF198-FGFR1 fusion gene.
- This fusion results in constitutive fibroblast growth factor receptor 1 (FGFR1) tyrosine kinase activity.
- Pathological findings include myeloid hyperplasia, lymphadenopathy, precursor T-lymphoblastic lymphoma, and eosinophilia.
Findings:
- This case represents the first documented instance of 8p11 myeloproliferative syndrome in an infant.
- Molecular testing was crucial for accurate diagnosis.
- Molecular techniques were valuable for monitoring minimal residual disease.
Implications:
- This case highlights the importance of molecular diagnostics in rare pediatric hematologic malignancies.
- Early diagnosis and monitoring of minimal disease are critical for managing aggressive conditions like EMS.
- Understanding FGFR1-driven leukemogenesis is key to developing targeted therapies.
