Chronic eosinophilic leukemia with recurrent STAT5B N642H mutation—An entity with features of myelodysplastic syndrome/ myeloproliferative neoplasm overlap

Sreedharanunni, Sreejesh; Jamwal, Manu; Balakrishnan, Anand; Aravindan, Arun Vijayalakshmi; Sharma, Ritika; Singh, Namrata; Rajpal, Sweta; Singla, Suhas; Khadwal, Alka; Ahluwalia, Jasmina; Malhotra, Pankaj; Das, Reena

doi:10.1016/j.leukres.2021.106753

Cited by 5 publications

(4 citation statements)

References 21 publications

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“…STAT5B N642H has also been noted in eosinophils from pediatric hypereosinophilias, with or without a presence in the T-cell population. The prognostic value of this mutation and its potential role as a targeted therapy are yet to be determined [25,[27][28][29][30][31]. In practice, clonality is not directly determined based on purified eosinophils.…”

Section: Eosinophiliamentioning

confidence: 99%

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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Section: Eosinophiliamentioning

confidence: 99%

Hematological Neoplasms with Eosinophilia

Morales-Camacho,

Caballero-Velázquez,

Borrero

et al. 2024

Cancers

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“…1,[6][7][8][9][10] Recent emerging evidence has indicated the occurrences of STAT5B N642H in myeloid neoplasms, both with or without eosinophilia. 6,11,12 In lymphoid neoplasms, concomitant mutations are infrequent. In contrast, myeloid neoplasms with STAT5B mutations show more intricate genetic profiles, marked by a higher diversity and number of concurrent mutations.…”

Section: Unveiling Myeloid Transformation: T-lgll With Eosinophilia M...mentioning

confidence: 99%

Unveiling myeloid transformation: T‐LGLL with eosinophilia masking myeloid‐associated STAT5B mutation culminating in AML

Dong,

Wang,

Xiu

et al. 2024

Br J Haematol

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“…KIT p.D816V, JAK2 p.V617F, JAK2 exon 13 indels, STAT5B p.N642H , 43 DNMT3A , ASXL1 , TET2 , EZH2 , SRSF2 , SETBP1, CBL a…”

Section: Diagnostic Approach To Eosinophilic Disorders 7 22 2...mentioning

confidence: 99%

“…While considering clonal markers, the possibility of agerelated clonal hematopoiesis of indeterminate potential should always be considered. 31,43 When to Diagnose Idiopathic HE/HES?…”

Section: How To Diagnose Chronic Eosinophilic Leukemiamentioning

confidence: 99%

Laboratory Workup of Hypereosinophilia

Sundaresan

Sreedharanunni

2023

Indian J Med Paediatr Oncol

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Hypereosinophilia (HE) can be caused by a wide variety of non-hematologic (secondary or reactive) and hematologic (primary, clonal) disorders. Diagnosing hypereosinophilia/hypereosinophilic syndrome (HE/HES) is challenging due to the complex nature of disease manifestations and numerous underlying etiologies. Knowing that only rare cases are clonal, it is wise to rule out reactive conditions and proceed with molecular and other advanced tools. The exclusion of secondary causes needs a detailed clinical evaluation followed by a wide range of serological and imaging investigations. Once reactive eosinophilia has been ruled out, the diagnosis of primary HE/HES is made using a combination of morphologic examination of the blood and bone marrow, conventional cytogenetics, fluorescent in situ hybridization, flow-cytometry, and T-cell clonality evaluation to look for histopathologic or clonal evidence of an underlying hematological disorder. The accurate diagnosis of clonal eosinophilia-causing myeloid and lymphoid neoplasms and the identification of numerous gene rearrangements significantly enhance patient outcomes, because a proportion of these patients (such as PDGFRA and PDGFRB rearrangements) responds well to tyrosine kinase inhibitors. Considering the complex etiopathologies, the cost of testing, and the time involved, the workup needs to be tailored according to the urgency of the situation and the resources available. In urgent situations with organ damage, it is crucial to initiate appropriate management without waiting for the results of investigations. In contrast, in a resource-limited situation, it is acceptable to employ step-by-step rather than comprehensive testing to rule out the most common causes first. Here, we discuss various laboratory investigations employed in diagnosing HE/HES, highlighting their importance in different situations.

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Chronic eosinophilic leukemia with recurrent STAT5B N642H mutation—An entity with features of myelodysplastic syndrome/ myeloproliferative neoplasm overlap

Cited by 5 publications

References 21 publications

Hematological Neoplasms with Eosinophilia

Hematological Neoplasms with Eosinophilia

Unveiling myeloid transformation: T‐LGLL with eosinophilia masking myeloid‐associated STAT5B mutation culminating in AML

Laboratory Workup of Hypereosinophilia

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