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Subjects/Pathology/Chromosomal Abnormalities
Chromosomal Abnormalities
medium
microscope Pathology

A 55-year-old patient is diagnosed with Chronic Myeloid Leukemia (CML). Which of the following chromosomal abnormalities is pathognomonic for this condition?

A. A. t(9;22)(q34;q11)
B. B. t(8;14)(q24;q32)
C. C. Deletion of 13q
D. D. Trisomy 8

Explanation

Chronic Myeloid Leukemia (CML) is characterized by a specific reciprocal translocation between chromosome 9 and chromosome 22, denoted as t(9;22)(q34;q11). This translocation results in the formation of the Philadelphia chromosome and the BCR-ABL fusion gene, which produces a constitutively active tyrosine kinase driving the proliferation of myeloid cells. Option B, t(8;14)(q24;q32), is associated with Burkitt lymphoma. Deletion of 13q is seen in some B-cell chronic lymphocytic leukemias and retinoblastoma. Trisomy 8 can be seen in some myelodysplastic syndromes and acute myeloid leukemias but is not pathognomonic for CML.

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