Eozinofilisi ve Spesifik Gen Yeniden Düzenlenmeleri Olan Miyeloid/Lenfoid Neoplazmalara Genetik Yaklaşım

Yıl 2025, Cilt: 35 Sayı: 1, 219 - 221, 28.02.2025

Ayşe Gül Bayrak Tokaç , Aynur Dağlar Aday

https://doi.org/10.54005/geneltip.1598254

Öz

Eozinofiller kemik iliğinde pluripotent bir kök hücreden köken alan granüler lökositlerdir. Eozinofillerin sayısında, kan ve/veya dokuda artış gözlemlenmesi, klinik açıdan çok yönlü bir yaklaşım gerektirir. Doğru tanı için bu artışın sebeplerini belirlemek önemlidir. Eozinofilisi olan ve spesifik gen füzyonlarının eşlik ettiği miyeloid/lenfoid neoplazmalar da, anormal tirozin kinaz veya sitokin reseptörü aktivitesi söz konusudur. Klinik bulguların benzerliğinden ve heterojenitesinden dolayı , bu grup hastalıklarda tanı karmaşası söz konusu olabilmektedir. Tanıyı doğrulamak genetik testler ile mümküdür. Bu yazıda, eozinofilisi ve tirozin kinaz gen füzyonları olan miyeloid/lenfoid neoplazmalar, hakkında genetik yaklaşım kısaca özetlenmiştir.

Anahtar Kelimeler

Miyeloid/Lenfoid Neoplazmalar, Eozinofili, Spesifik Gen Yeniden Düzenlenmeleri

Myeloid/lymphoid neoplasms with eosinophilia and specific gene rearrangements: a genetic approach

Öz

Eosinophils are granular leukocytes derived from a pluripotent stem cell in the bone marrow. An increase in the number of eosinophils in the blood and/or tissues requires a multifaceted clinical approach. It is important to determine the cause of the increase in order to make a correct diagnosis. Myeloid/lymphoid neoplasms with eosinophilia and specific gene fusions involve abnormal tyrosine kinase or cytokine receptor activity. Due to the similarity and heterogeneity of clinical findings, there may be diagnostic confusion in this group of diseases. Confirmation of the diagnosis is possible with genetic testing. This article briefly summarises the genetic approach to myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.

Anahtar Kelimeler

eosinophilia, hematological neoplasm, myeloid/lymphoid neoplasm with eosinophilia

Kaynakça

• 1. Morales-Camacho RM, Caballero-Velázquez T, Borrero JJ, Bernal R, Prats-Martín C. Hematological Neoplasms with Eosinophilia. Cancers (Basel). 2024;16(2):337. Published 2024 Jan 12. doi:10.3390/cancers16020337
• 2. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405. doi:10.1182/blood-2016-03-643544
• 3. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. doi:10.1182/blood.2022015850
• 4. Kim AS, Pozdnyakova O. SOHO State of the Art Updates and Next Questions | Myeloid/Lymphoid Neoplasms with Eosinophilia and Gene Rearrangements: Diagnostic Pearls and Pitfalls. Clin Lymphoma Myeloma Leuk. 2022;22(9):643-651. doi:10.1016/j.clml. 2022.03.008
• 5. Lierman E, Michaux L, Beullens E, et al. FIP1L1-PDGFRalpha D842V, a novel pan-resistant mutant, emerging after treatment of FIP1L1-PDGFRalpha T674I eosinophilic leukemia with single agent sorafenib. Leukemia. 2009;23(5):845-851. doi:10.1038/leu.2009.2
• 6. Di Giacomo D, Quintini M, Pierini V, et al. Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement. Ann Hematol. 2022;101(2):297-307. doi:10.1007/s00277-021-04712-8
• 7. Bayrak, A.G., Ucur, A., Daglar Aday, A., et al. A case mimicking chronic myeloid leukemia with t(8;22)(p11;q11)/BCR-FGFR1 and sequential transformation to B-acute lymphoblastic leukemia and acute myeloid leukemia. J Hematopathol 2021; 14:151–156. doi:10.1007/s12308-020-00429-1
• 8. Kaplan HG, Jin R, Bifulco CB, Scanlan JM, Corwin DR. PCM1-JAK2 Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature. Oncologist. 2022;27(8):e661-e670. doi:10.1093/oncolo/oyac072
• 9. Tang G, Tam W, Short NJ, et al. Myeloid/lymphoid neoplasms with FLT3 rearrangement. Mod Pathol. 2021;34(9):1673-1685. doi:10.1038/s41379-021-00817-7
• 10. Gotlib J. Available and emerging therapies for bona fide advanced systemic mastocytosis and primary eosinophilic neoplasms. Hematology Am Soc Hematol Educ Program. 2022;2022(1):34-46. doi:10.1182/hematology.2022000368