HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1 fusion: Difference between revisions

The presenting features are generally similar to those seen in patients with other B-ALLs. Most children with B-ALL with ''BCR-ABL1'' are considered to have high risk on the basis of age and white blood cell count (WBC). Patients tend to have a high WBC count at presentation, and although they may have organ involvement, lymphomatous presentations are rare.  

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==Sites of Involvement==

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

The pediatric and adult Ph + B-ALL has been associated with the worst prognosis of the major cytogenetic subtypes of B- ALL. However, therapy with tyrosine kinase inhibitors (TKIs) has had a significantly favorable effect on outcome. A major molecular response is defined as a ≥3-log reduction in BCR-ABL1 transcript compared with the standardized baseline.  

The presence of IKZF1 deletion has been associated with poor outcome and high risk of re- lapse. <ref>{{Cite journal|last=van der Veer|first=Arian|last2=Zaliova|first2=Marketa|last3=Mottadelli|first3=Federica|last4=De Lorenzo|first4=Paola|last5=Te Kronnie|first5=Gertruuy|last6=Harrison|first6=Christine J.|last7=Cavé|first7=Hélène|last8=Trka|first8=Jan|last9=Saha|first9=Vaskar|date=2014-03-13|title=IKZF1 status as a prognostic feature in BCR-ABL1-positive childhood ALL|url=https://pubmed.ncbi.nlm.nih.gov/24366361|journal=Blood|volume=123|issue=11|pages=1691–1698|doi=10.1182/blood-2013-06-509794|issn=1528-0020|pmid=24366361}}</ref>

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==Individual Region Genomic Gain / Loss / LOH==

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The most common accompanying chromosomal abnormalities include monosomy 7 (including deletion of the IKZF1 gene) (18%), monosomy 9 or 9p deletion (9%), and gain of 1q (8%).  

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==Characteristic Chromosomal Patterns==

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The t(9;22) results in the production of a BCR-ABL1 fusion protein. The majority of pediatric and half of adult t(9;22) positive B-ALL involve the minor breakpoint cluster region (m-bcr) encoding a smaller p190 fusion protein in contrast to chronic myelogenous leukemia (CML), where it involves the major breakpoint cluster region (M-bcr). <ref>{{Cite journal|last=Woo|first=Jennifer S.|last2=Alberti|first2=Michael O.|last3=Tirado|first3=Carlos A.|date=2014|title=Childhood B-acute lymphoblastic leukemia: a genetic update|url=https://pubmed.ncbi.nlm.nih.gov/24949228|journal=Experimental Hematology & Oncology|volume=3|pages=16|doi=10.1186/2162-3619-3-16|issn=2162-3619|pmc=4063430|pmid=24949228}}</ref>

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==Gene Mutations (SNV / INDEL)==

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''BCR'' and ''ABL1''

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==Genetic Diagnostic Testing Methods==