Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children

Berking, Ann-Cathrine; Flaadt, Tim; Behrens, Yvonne Lisa; Yoshimi, Ayami; Leipold, Alfred; Holzer, Ursula; Lang, Peter; Quintanilla-Martı́nez, Leticia; Schlegelberger, Brigitte; Reiter, Andreas; Niemeyer, Charlotte M.; Strahm, Brigitte; Göhring, Gudrun

doi:10.1016/j.cancergen.2023.01.002

Cited by 3 publications

(8 citation statements)

References 13 publications

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“…Cutaneous involvement at initial presentation has also been reported by others. 7,8 All PDGFRB-rearranged M/LNeo had an excellent response to imatinib treatment.…”

Section: / L N W I T H E O S I N O P H I L Imentioning

confidence: 99%

“…4 However, the clinical course of FGFR1-rearranged M/LN-eo was often aggressive, with frequent relapses and/or lymphoblastic transformation. 7,77 Very recently, two paediatric cases with FLT3 rearrangement were reported. Spitzer et al described an ETV::FLT3 fusion-driven M/LN-eo with T-lymphoid and myeloid differentiation in a 8-month-old male infant who presented with features mimicking JMML.…”

Section: / L N W I T H E O S I N O P H I L Imentioning

confidence: 99%

“…Approximately 30 paediatric cases of M/LN‐eo with various TK gene fusions have been identified in the literature, including several reports in infants (Table 3). 4,5,7,9,71–73 The majority were PDGFRB ‐rearranged M/LN‐eo with similar clinical presentations as in adults, such as leucocytosis, hepatosplenomegaly and MPN‐like BM morphology, mimicking CEL 71,72,74 . Abraham et al .…”

Section: Introductionmentioning

confidence: 99%

“…The estimated incidence of M/LN-eo-TK is < 1/ 100 000 people, 3 and is even more rare in children, with only few reported cases. [4][5][6][7][8][9] The category of M/LNeo-TK contains several specific disease groups (PDGFRA, PDGFRB and FGFR1) and was recently expanded with JAK2-rearrangement (formerly a provional entity), FLT3-rearrangements and ETV6::ABL1 in the 5th edition of the WHO classification (WHO-HAEM5) 10 and the International Consensus Classification (ICC). 11 Other less common genetic alterations involving TK genes have been described in the literature and may be considered in the group of M/LN-eo with other tyrosine kinase gene fusions (WHO-HAEM5).…”

Section: Introductionmentioning

confidence: 99%

“…Extramedullary disease manifestation is common. The estimated incidence of M/LN‐eo‐TK is < 1/100 000 people, 3 and is even more rare in children, with only few reported cases 4–9 . The category of M/LN‐eo‐TK contains several specific disease groups ( PDGFRA , PDGFRB and FGFR1 ) and was recently expanded with JAK2 ‐rearrangement (formerly a provional entity), FLT3‐ rearrangements and ETV6::ABL1 in the 5th edition of the WHO classification (WHO‐HAEM5) 10 and the International Consensus Classification (ICC) 11 .…”

Section: Introductionmentioning

confidence: 99%

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Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

et al. 2023

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Myeloid/lymphoid neoplasms with eosinophilia (M/LN‐eo) and tyrosine kinase (TK) gene fusions are a rare group of haematopoietic neoplasms with a broad range of clinical and morphological presentations. Paediatric cases have increasingly been recognised. Importantly, not all appear as a chronic myeloid neoplasm and eosinophilia is not always present. In addition, standard cytogenetic and molecular methods may not be sufficient to diagnose M/LN‐eo due to cytogenetically cryptic aberrations. Therefore, additional evaluation with fluorescence in‐situ hybridisation and other molecular genetic techniques (array‐based comparative genomic hybridisation, RNA sequencing) are recommended for the identification of specific TK gene fusions. M/LN‐eo with JAK2 and FLT3‐rearrangements and ETV6::ABL1 fusion were recently added as a formal member to this category in the International Consensus Classification (ICC) and the 5th edition of the WHO classification (WHO‐HAEM5). In addition, other less common defined genetic alterations involving TK genes have been described. This study is an update on M/LN‐eo with TK gene fusions with focus on novel entities, as illustrated by cases submitted to the Bone Marrow Workshop, organised by the European Bone Marrow Working Group (EBMWG) within the frame of the 21st European Association for Haematopathology congress (EAHP‐SH) in Florence 2022. A literature review was performed including paediatric cases of M/LN‐eo with TK gene fusions.

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“…Cutaneous involvement at initial presentation has also been reported by others. 7,8 All PDGFRB-rearranged M/LNeo had an excellent response to imatinib treatment.…”

Section: / L N W I T H E O S I N O P H I L Imentioning

confidence: 99%

Section: / L N W I T H E O S I N O P H I L Imentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

et al. 2023

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Cytogenetics and genomics in CML and other myeloproliferative neoplasms

Kreipe,

Schlegelberger

2024

Best Practice & Research Clinical Haematology

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Hematological Neoplasms with Eosinophilia

Morales-Camacho,

Caballero-Velázquez,

Borrero

et al. 2024

Cancers

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Eosinophils in peripheral blood account for 0.3–5% of leukocytes, which is equivalent to 0.05–0.5 × 109/L. A count above 0.5 × 109/L is considered to indicate eosinophilia, while a count equal to or above 1.5 × 109/L is defined as hypereosinophilia. In bone marrow aspirate, eosinophilia is considered when eosinophils make up more than 6% of the total nuclear cells. In daily clinical practice, the most common causes of reactive eosinophilia are non-hematologic, whether they are non-neoplastic (allergic diseases, drugs, infections, or immunological diseases) or neoplastic (solid tumors). Eosinophilia that is associated with a hematological malignancy may be reactive or secondary to the production of eosinophilopoietic cytokines, and this is mainly seen in lymphoid neoplasms (Hodgkin lymphoma, mature T-cell neoplasms, lymphocytic variant of hypereosinophilic syndrome, and B-acute lymphoblastic leukemia/lymphoma). Eosinophilia that is associated with a hematological malignancy may also be neoplastic or primary, derived from the malignant clone, usually in myeloid neoplasms or with its origin in stem cells (myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, acute myeloid leukemia with core binding factor translocations, mastocytosis, myeloproliferative neoplasms, myelodysplastic/myeloproliferative neoplasms, and myelodysplastic neoplasms). There are no concrete data in standardized cytological and cytometric procedures that could predict whether eosinophilia is reactive or clonal. The verification is usually indirect, based on the categorization of the accompanying hematologic malignancy. This review focuses on the broad differential diagnosis of hematological malignancies with eosinophilia.

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Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children

Cited by 3 publications

References 13 publications

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

Cytogenetics and genomics in CML and other myeloproliferative neoplasms

Hematological Neoplasms with Eosinophilia

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