PDGFRA rearrangement

P1/2, N=40, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2024 --> Jan 2025 | Trial primary completion date: Jan 2024 --> Jan 2025

No abstract available

HE requires a wide diagnostic evaluation with a multidisciplinary approach and the development of working groups in order to avoid these inconclusive diagnosis (12% in our series) and the missing diagnostic tests. Our study suggests the association between elevated LDH, cobalamins and tryptase and clonal cause of HE, as well as a higher rate of fibrosis, medullary dysplasia and altered karyotypes in these patients, indicating the need to include these evaluations in the diagnostic process. The group of PDGFRα patients had good prognosis with imatinib, but one patient presented clonal evolution and blastic transformation, showing the clinical challenge of these entities.

No abstract available

Among eosinophilic disorders, the subtype identified as myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions has aroused particular interest due to its excellent response to tyrosine kinase inhibitors, including imatinib. Here, we described the case of two 33-year-old men presenting with LyP and myeloid neoplasm with eosinophilia and FIP1L1::PDGFRA rearrangement who achieved complete clinical and molecular remission of both conditions a few months after starting imatinib.

No abstract available

Due to recurrence of erythematous papules followed by necrotic evolution, methotrexate 10 mg once weekly was started with symptoms resolution. In some cases, it may be linked to the release of eosinophilopoietic cytokines, such as IL-5 and IL-3, by abnormal LyP T lymphocytes. In addition, FIP1L1-PDGFRA rearrangement has been identified in both eosinophils and clonal T cells in some patients, thus suggesting a common pathogenetic mechanism and the reason why imatinib is capable of inducing a clinical-molecular remission of both conditions.Consequently, search for FIP1L1-PDGFRA rearrangement should always be performed in LyP patients who present with HE at diagnosis or develop it during follow-up.

No abstract available

Targeted TKI therapies in the upfront setting are associated with excellent outcomes in patients with MLN-Eos. The elucidation of potential mechanisms needs further exploration.

P1/2, N=51, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting

No abstract available

The overall outcome of these neoplasms is favorable with imatinib therapy. Herein, we describe an adult female patient with a myeloid neoplasm accompanied by eosinophilia and a novel USP25::PDGFRA gene fusion.

Upfront TKI can potentially suppress, even in some cases eradicate the malignant clone. The study is limited due to small sample size and retrospective nature, and larger study is needed to validate our observation.

In all cases, the final diagnosis was ultimately made through morphologic, molecular, and cytogenetic testing, independently of FCI findings. Deferring FCI from the initial diagnostic workup of MPNs would save the institutions involved $91,885, $29,325, $17,595, and $11,730 annually, in addition to costs associated with further workup of incidental findings.

This review focuses on morphological, immunophenotypical and molecular features of BCR-ABL1-negative MPN and their differential diagnoses. Furthermore, areas of difficulties and open questions in their classification are addressed, and the persistent role of morphology in the area of molecular medicine is discussed.