Case Report: BCR-ABL Negative in Patient with Chronic Myeloid Leukemia (CML)

ABSTRACT

Introduction. Chronic myeloid leukemia (CML) is the classic chronic myeloproliferative disorder. It is a clonal stem cell disorder characterized by the acquisition of an oncogenic BCR/ABL fusion protein and by proliferation of granulocytic elements at all stages of differentiation (Reichard et al., 2009).  CML was the first malignant disease found to be consistently associated with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), resulting in the formation of the BCR-ABL fusion oncogene

Case. A man, Mr. S (65 YO), came to clinic RSSA with chef complain easy to get tired. Physical examination get splenomegaly schuffner III/IV. Peripheral blood get Hb 14,,4 d/dl, RBC 5,26 x 1012/L, Hct 45,5%, MCV 86,5 Fl, MCH 27,4Pg, RDW-CV 16,9%, WBC 89,31 x 109/L, Platelet 65 x 109/L, Diff count 14//1/8/54/7/6 myeloblast 3%, promyelocyte 2%, myelocyte 2%, metamyelocyte 3%, peripheral blood smear show, erythrocyte : Normochromic anisocytosis, leukocyte : impression increase of the amount, thrombocyte : : impression decrease of the amount. On bone marrow examination only get “dray tap”. From peripheral blood and bone marrow examination show a chronic myeloid leukemia (CML). BCR-ABL, with RT-PCR technique get ABL 2140 copy/ml, and no BCR-ABL detected.

Conclusion. No BCR-ABL at this patient may caused by AccuPower® BCR-ABL Quantitative PCR Kit only detect BCR-ABL (b3a2) fusion gene or this patient have BCR/ABL fusion transcript. we suggested cytogenetic analysis with DNA sequencing or FISH method.

Key words: CML, BCR-ABL, PCR

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