Central nervous system relapsed B-Lymphoblastic Leukemia with t(9;22)(q34;q11) BCR/ABL1 mimicking acute myeloid leukemia
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چکیده
The presence of the Philadelphia (Ph) chromosome is one of the worst prognostic factors in B-cell acute lymphoblastic leukemia (B-ALL). Cerebrospinal fluid (CSF) involvement is a high-risk factor and serious complication in patients with B-ALL. Here we report a 21-year-old female diagnosed with Ph positive B-ALL and subsequently developed CSF relapse and rapid demise. Her CSF contained numerous blasts resembling myeloblasts. The relevant clinicopathologic distinctive scenarios and differential diagnoses are discussed.
منابع مشابه
Philadelphia-Positive Acute Myeloblastic Leukemia: A Rare Entity
The Philadelphia chromosome was first discovered in Philadelphia in 1960. It corresponds to shortened chromosome 22 resulting from reciprocal translocation between long arm of chromosome 9 and short arm of chromosome 22, which is designated as t(9;22)(q34;q11). This gives rise to a BCR/ABL fusion gene, that juxtaposes the ABL1 gene on chromosome 9 (region q34) to a part of the BCR ("Breakpoint ...
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The BCR/ABL1 fusion gene, usually carried by the Philadelphia chromosome (Ph) resulting from t(9;22)(q34;q11) or variants, is pathognomonic for chronic myeloid leukaemia (CML). It is also occasionally found in acute lymphoblastic leukaemia (ALL) mostly in adults and rarely in de novo acute myeloid leukaemia (AML). Array Comparative Genomic Hybridization (aCGH) was used to study six Ph(+)AML, th...
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The Philadelphia (Ph) translocation t(9;22)(q34;q11) occurs frequently in chronic myeloid leukemia (CML) but is less common in acute lymphoblastic leukemia (ALL) and rare in acute myeloid leukemia (AML). In most cases of CML and some cases of Ph+ ALL the protooncogene ABL from 9q34 is translocated to the breakpoint cluster region (bcr) of the BCR gene at 22q11 to form a chimeric gene encoding a...
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The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Philadelphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability. This aberrant fusion gene encodes the breakpoint cluster region-proto-oncogene tyrosine-protei...
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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,...
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تاریخ انتشار 2016