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Concomitant t(8;21) And Trisomy 4 in a Patient with Acute Myeloid Leukemia (AML)

Case report

Abstrak

Aberasi t(8;21)(q22;q22) kerap berlaku pada leukemia myeloid akut (18-20%) dan se­lalunya dikaitkan dengan sub-jenis ‘French-America-British (FAB) M2’. Aberasi trisomi 4 jarang berlaku dan ia adalah keabnormalan spesifik yang berlaku pada AML M2 atau M4. Kami melaporkan satu kajian kes daripada seorang wanita berumur 33 tahun di mana diagnosa klinikal dan laporan hematologi menunjukkan leukemia pro­myelosit akut (APL). Ujian sitogenetik pesakit me­nunjukkan keabnormalan kromosom melibat­kan aberasi t(8;21) dan trisomi kromosom 4. Kehadiran trisomi 4 dengan t(8;21) dalam kes AML jarang berlaku. Kehadiran trisomi 4 dengan t(8;21) tidak mempunyai signifi­kan yang jelas tetapi ia berkait dengan prognosis yang kurang baik.

Abstract

The t(8;21)(q22;q22) is a frequently occurring aberration in acute myeloid leukemia (AML) (18-20%) and usually correlate with French-America-British (FAB) M2 subtype.  Several studies showed that patients carrying this abnormality demonstrated good response to standard chemotherapy but also have a high incidence of disease relapse. Trisomy 4 is a rare and specific chromosomal abnormality occurring in AML M2 or M4 of the FAB subtypes. We report a case of a 33-year-old female with an apparently clinical and hematologic diagnosis of acute promyelocytic leukemia (APL) in whom cytogenetic analysis revealed an abnormal karyotype with trisomy 4, in addition to t(8;21). Trisomy 4 and t(8;21) in a patient with AML is rare. The significance of t(8;21) with trisomy 4 in AML are unclear but patients bearing this abnormality are associated with a poor prognosis.