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Published on: May 10, 2024
Molecular characterization of paediatric idiopathic hypereosinophilia
Maria Cristina Rapanotti1, Roberta Caruso, Emanuele Ammatuna
1Department of Laboratory Medicine, Policlinico Tor Vergata, Rome, Italy. cristinarapanotti@yahoo.it
Insights
Paediatric hypereosinophilic syndromes (pHES) can evolve into blood cancers. Immunoglobulin heavy chain (IGH) clonality is a frequent feature in pHES and may indicate future B-cell malignancies.
Area of Science:
- Hematology
- Pediatric Oncology
- Molecular Biology
Background:
- Hypereosinophilic syndromes (HES) are a group of diseases marked by elevated eosinophils.
- Paediatric hypereosinophilia (pHES) is rare, and early identification is crucial due to potential evolution into lymphomyeloproliferative disorders.
- Understanding the molecular underpinnings of pHES is vital for prognostic and therapeutic insights.
Purpose of the Study:
- To investigate the molecular characteristics of paediatric hypereosinophilic syndromes (pHES).
- To identify potential molecular markers associated with disease progression in pHES patients.
- To correlate molecular findings with clinical outcomes in children with pHES.
Main Methods:
- Analysis of BCR-ABL1 and FIP1L1/PDGFRA fusion genes.
- Quantification of WT1 gene copy number.
- Assessment of T-cell receptor (TCR) and immunoglobulin heavy chain (IGH) clonality in 10 pHES patients.
Main Results:
- All patients presented with a normal karyotype and germline TCR configuration.
- Five children exhibited IGH clonality at diagnosis; two later developed B-cell malignancies (B non-Hodgkin lymphoma, B-lineage acute lymphocytic leukaemia).
- One patient with FIP1L1/PDGFRA fusion achieved remission with imatinib; IGH rearrangement was frequent and potentially predictive of B-cell evolution.
Conclusions:
- Immunoglobulin heavy chain (IGH) rearrangement is a common molecular finding in paediatric hypereosinophilic syndromes (pHES).
- IGH clonality may serve as an early indicator for the potential development of B-cell malignancies in children with pHES.
- Further research into molecular markers can improve prognostication and guide therapeutic strategies for pHES.
Abstract:
The hypereosinophilic syndromes (HES) include a group of heterogeneous diseases characterized by the persistent increase of the number of eosinophils in blood and bone marrow. Few cases of paediatric hypereosinophilia (pHES) have been described in the literature. Early identification of pHES that may evolve towards a lymphomyeloproliferative disease is relevant in light of prognostic and therapeutic implications. Molecular features of 10 pHES patients were analysed at presentation and during their clinical course, including analysis of BCR-ABL1 and FIP1L1/PDGFRA fusion genes, quantitation of WT1 gene copy number and clonality of T-cell receptor (TCR) and immunoglobulin heavy chain (IGH). All patients had normal karyotype and germline TCR configuration. Five children showed IGH clonality at presentation: of these, two developed a B non-Hodgkin lymphoma and a B-lineage acute lymphocytic leukaemia at six and 12 months respectively, two spontaneously reverted to a polyclonal IGH profile during the follow-up, and the last one persisted with pHES without B-clonal evolution after 19 months. One patient had a PDGFRA/FIP1L1 fusion and achieved hematologic and molecular remission after imatinib therapy. IGH rearrangement was observed to be a frequent molecular feature of pHES and may precede B-cell clonal expansion and evolution into B-cell malignancies in children.
