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

Year 2025, Volume: 35 Issue: 1, 219 - 221, 28.02.2025
https://doi.org/10.54005/geneltip.1598254

Abstract

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.

References

  • 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

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

Year 2025, Volume: 35 Issue: 1, 219 - 221, 28.02.2025
https://doi.org/10.54005/geneltip.1598254

Abstract

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.

References

  • 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
There are 10 citations in total.

Details

Primary Language English
Subjects ​Internal Diseases, Clinical Sciences (Other)
Journal Section Letter to the Editor
Authors

Ayşe Gül Bayrak Tokaç 0000-0003-2228-0632

Aynur Dağlar Aday 0000-0001-8072-0646

Publication Date February 28, 2025
Submission Date December 8, 2024
Acceptance Date February 3, 2025
Published in Issue Year 2025 Volume: 35 Issue: 1

Cite

Vancouver Bayrak Tokaç AG, Dağlar Aday A. Myeloid/lymphoid neoplasms with eosinophilia and specific gene rearrangements: a genetic approach. Genel Tıp Derg. 2025;35(1):219-21.

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