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Four Cases of Chronic Myelogenous Leukemia in Mixed Phenotype Blast Phase at Initial Presentation Mimicking Mixed Phenotype Acute Leukemia with t(9;22)

한경자|이재욱|임지향|김용구|김명신|이석|정낙균|최우진
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2014.01|Annals of Laboratory Medicine|제34권 제1호|pp. 60-63

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참고문헌

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초록

The t(9;22)(q34;q11.2) translocation results in a BCR-ABL1 fusion gene located on the Philadelphia chromosome (Ph), causing a constitutively active BCR-ABL1 tyrosine kinase. This fusion gene is found in virtually all cases of CML, 5% of pediatric and 15-30% of adult cases of ALL, and 1-2% of cases of de novo AML [1-3]. While mixed phenotype acute leukemia (MPAL) with t(9;22)(q34;q11.2) is rare, this translocation is the most common recurrent genetic abnormality seen in MPAL [4].

Abstract

The t(9;22)(q34;q11.2) translocation results in a BCR-ABL1 fusion gene located on the Philadelphia chromosome (Ph), causing a constitutively active BCR-ABL1 tyrosine kinase. This fusion gene is found in virtually all cases of CML, 5% of pediatric and 15-30% of adult cases of ALL, and 1-2% of cases of de novo AML [1-3]. While mixed phenotype acute leukemia (MPAL) with t(9;22)(q34;q11.2) is rare, this translocation is the most common recurrent genetic abnormality seen in MPAL [4].

참고문헌 (13)

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  3. Specchia G, "Ph positive acute lymphoblastic leukemia in adults: molecular and clinical studies", Leuk Lymphoma, 18(1), pp.37~42 (1995)
  4. Borowitz MJ, "WHO classification of tumours of haematopoietic and lymphoid tissues", pp.150~155 (2008), IARC
  5. Vardiman JW, "WHO classification of tumours of haematopoietic and lymphoid tissues", pp.32~37 (2008), IARC
  6. Larson RS, "Wintrobe’s clinical hematology, 10th ed", pp.2342~2373 (1999), Williams & Wilkin’s
  7. Yen CC, "Immunophenotypic and genotypic characteristics of chronic myelogenous leukemia in blast crisis", Zhonghua Yi Xue Za Zhi, 63, pp.785~791 (2000)
  8. Döhner H, "Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet", Blood, 115, pp.453~474 (2010)
  9. Kim DW, "Chronic myeloid leukemia in the Asia-Pacific region: current practice, challenges and opportunities in the targeted therapy era", Leuk Res, 34, pp.1459~1471 (2010)
  10. Kobayashi S, "BCR-ABL promotes neutrophil differentiation in the chronic phase of chronic myeloid leukemia by downregulating c-Jun expression", Leukemia, 23, pp.1622~1627 (2009)
  11. Lee W, "Eosinophils and basophils carry the fused BCR", ABL gene in chronic myelogenous leukemia: direct fluorescence in situ hybridization analysis on blood smears, 1998, pp.100, 106~109
  12. Anastasi J, "Lineage involvement by BCR", ABL in Ph+ lymphoblastic leukemias: chronic myelogenous leukemia presenting in lymphoid blast vs. Ph+ acute lymphoblastic leukemia, 1996, pp.10, 795~802
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