HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
Karyotype, flow cytometry DNA index, FISH, and SNP arrays are all useful in establishing the diagnosis<ref name=":13" />. When using FISH or karyotype, approximately 16% to 30% of the ALL cases yield no or inadequate cytogenetic results due to inadequate specimens and absent or few mitotic cells. Among those with a cytogenetic result, 15% to 25% have a normal karyotype<ref>{{Cite journal|last=Moorman|first=Anthony V.|last2=Ensor|first2=Hannah M.|last3=Richards|first3=Sue M.|last4=Chilton|first4=Lucy|last5=Schwab|first5=Claire|last6=Kinsey|first6=Sally E.|last7=Vora|first7=Ajay|last8=Mitchell|first8=Chris D.|last9=Harrison|first9=Christine J.|date=2010-05|title=Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: results from the UK Medical Research Council ALL97/99 randomised trial|url=https://pubmed.ncbi.nlm.nih.gov/20409752|journal=The Lancet. Oncology|volume=11|issue=5|pages=429–438|doi=10.1016/S1470-2045(10)70066-8|issn=1474-5488|pmid=20409752}}</ref>. High-resolution SNP array can detect IKZF1 deletions and other cryptic copy number aberrations as well as CN-LOH that are not detectable by chromosome analysis | Karyotype, flow cytometry DNA index, FISH, and SNP arrays are all useful in establishing the diagnosis<ref name=":13" />. When using FISH or karyotype, approximately 16% to 30% of the ALL cases yield no or inadequate cytogenetic results due to inadequate specimens and absent or few mitotic cells. Among those with a cytogenetic result, 15% to 25% have a normal karyotype<ref>{{Cite journal|last=Moorman|first=Anthony V.|last2=Ensor|first2=Hannah M.|last3=Richards|first3=Sue M.|last4=Chilton|first4=Lucy|last5=Schwab|first5=Claire|last6=Kinsey|first6=Sally E.|last7=Vora|first7=Ajay|last8=Mitchell|first8=Chris D.|last9=Harrison|first9=Christine J.|date=2010-05|title=Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: results from the UK Medical Research Council ALL97/99 randomised trial|url=https://pubmed.ncbi.nlm.nih.gov/20409752|journal=The Lancet. Oncology|volume=11|issue=5|pages=429–438|doi=10.1016/S1470-2045(10)70066-8|issn=1474-5488|pmid=20409752}}</ref>. High-resolution SNP array can detect IKZF1 deletions and other cryptic copy number aberrations as well as CN-LOH that are not detectable by chromosome analysis<ref>{{Cite journal|last=Wang|first=Yunhong|last2=Miller|first2=Sue|last3=Roulston|first3=Diane|last4=Bixby|first4=Dale|last5=Shao|first5=Lina|date=2016-07|title=Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/27161658|journal=The Journal of molecular diagnostics: JMD|volume=18|issue=4|pages=595–603|doi=10.1016/j.jmoldx.2016.03.004|issn=1943-7811|pmid=27161658}}</ref>. | ||
==Familial Forms== | ==Familial Forms== | ||