Changes

*Approximately 80% of CLL patients have a cytogenetic abnormality detectable by fluorescence ''in situ'' hybridization (FISH)

*Approximately 80% of CLL patients have a cytogenetic abnormality detectable by fluorescence ''in situ'' hybridization (FISH)

*Deletion of chromosome 13q14 detected by FISH is the most common cytogenetic abnormality in CLL. The deleted region includes two microRNAs, miR15A and miR16-1<ref name=":4">{{Cite journal|last=Liew|first=Danny|last2=Krum|first2=Henry|date=2002-10|title=The role of aldosterone receptor blockade in the management of cardiovascular disease|url=https://pubmed.ncbi.nlm.nih.gov/12431020|journal=Current Opinion in Investigational Drugs (London, England: 2000)|volume=3|issue=10|pages=1468–1473|issn=1472-4472|pmid=12431020}}</ref>. These microRNAs inhibit the expression of genes involved in apoptosis and cell cycle regulation. Deletion of miR15A and miR16-1 leads to upregulation of BCL2<ref>{{Cite journal|last=Cimmino|first=Amelia|last2=Calin|first2=George Adrian|last3=Fabbri|first3=Muller|last4=Iorio|first4=Marilena V.|last5=Ferracin|first5=Manuela|last6=Shimizu|first6=Masayoshi|last7=Wojcik|first7=Sylwia E.|last8=Aqeilan|first8=Rami I.|last9=Zupo|first9=Simona|date=2005-09-27|title=miR-15 and miR-16 induce apoptosis by targeting BCL2|url=https://pubmed.ncbi.nlm.nih.gov/16166262|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=102|issue=39|pages=13944–13949|doi=10.1073/pnas.0506654102|issn=0027-8424|pmc=1236577|pmid=16166262}}</ref>. Deletion of 13q14 as the sole cytogenetic abnormality is associated with a favorable prognosis. Deletions may be heterozygous or homozygous with a similar prognosis. Individuals with a high percentage of nuclei with 13q deletion (>65%) may have a less favorable prognosis<ref>{{Cite journal|last=Van Dyke|first=Daniel L.|last2=Shanafelt|first2=Tait D.|last3=Call|first3=Timothy G.|last4=Zent|first4=Clive S.|last5=Smoley|first5=Stephanie A.|last6=Rabe|first6=Kari G.|last7=Schwager|first7=Susan M.|last8=Sonbert|first8=Jessica C.|last9=Slager|first9=Susan L.|date=2010-02|title=A comprehensive evaluation of the prognostic significance of 13q deletions in patients with B-chronic lymphocytic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/19895615|journal=British Journal of Haematology|volume=148|issue=4|pages=544–550|doi=10.1111/j.1365-2141.2009.07982.x|issn=1365-2141|pmc=2866061|pmid=19895615}}</ref>

*Deletion of chromosome 13q14 detected by FISH is the most common cytogenetic abnormality in CLL. The deleted region includes two microRNAs, ''miR15A'' and ''miR16-1''<ref name=":4">{{Cite journal|last=Liew|first=Danny|last2=Krum|first2=Henry|date=2002-10|title=The role of aldosterone receptor blockade in the management of cardiovascular disease|url=https://pubmed.ncbi.nlm.nih.gov/12431020|journal=Current Opinion in Investigational Drugs (London, England: 2000)|volume=3|issue=10|pages=1468–1473|issn=1472-4472|pmid=12431020}}</ref>. These microRNAs inhibit the expression of genes involved in apoptosis and cell cycle regulation. Deletion of miR15A and miR16-1 leads to upregulation of BCL2<ref>{{Cite journal|last=Cimmino|first=Amelia|last2=Calin|first2=George Adrian|last3=Fabbri|first3=Muller|last4=Iorio|first4=Marilena V.|last5=Ferracin|first5=Manuela|last6=Shimizu|first6=Masayoshi|last7=Wojcik|first7=Sylwia E.|last8=Aqeilan|first8=Rami I.|last9=Zupo|first9=Simona|date=2005-09-27|title=miR-15 and miR-16 induce apoptosis by targeting BCL2|url=https://pubmed.ncbi.nlm.nih.gov/16166262|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=102|issue=39|pages=13944–13949|doi=10.1073/pnas.0506654102|issn=0027-8424|pmc=1236577|pmid=16166262}}</ref>. Deletion of 13q14 as the sole cytogenetic abnormality is associated with a favorable prognosis. Deletions may be heterozygous or homozygous with a similar prognosis. Individuals with a high percentage of nuclei with 13q deletion (>65%) may have a less favorable prognosis<ref>{{Cite journal|last=Van Dyke|first=Daniel L.|last2=Shanafelt|first2=Tait D.|last3=Call|first3=Timothy G.|last4=Zent|first4=Clive S.|last5=Smoley|first5=Stephanie A.|last6=Rabe|first6=Kari G.|last7=Schwager|first7=Susan M.|last8=Sonbert|first8=Jessica C.|last9=Slager|first9=Susan L.|date=2010-02|title=A comprehensive evaluation of the prognostic significance of 13q deletions in patients with B-chronic lymphocytic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/19895615|journal=British Journal of Haematology|volume=148|issue=4|pages=544–550|doi=10.1111/j.1365-2141.2009.07982.x|issn=1365-2141|pmc=2866061|pmid=19895615}}</ref>

*Deletion of 17p, which includes ''TP53'', is associated with poor prognosis and resistance to standard chemotherapy regimens<ref name=":5">{{Cite journal|last=Döhner|first=H.|last2=Stilgenbauer|first2=S.|last3=Benner|first3=A.|last4=Leupolt|first4=E.|last5=Kröber|first5=A.|last6=Bullinger|first6=L.|last7=Döhner|first7=K.|last8=Bentz|first8=M.|last9=Lichter|first9=P.|date=2000-12-28|title=Genomic aberrations and survival in chronic lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11136261|journal=The New England Journal of Medicine|volume=343|issue=26|pages=1910–1916|doi=10.1056/NEJM200012283432602|issn=0028-4793|pmid=11136261}}</ref>.

*Deletion of 17p, which includes ''TP53'', is associated with poor prognosis and resistance to standard chemotherapy regimens<ref name=":5">{{Cite journal|last=Döhner|first=H.|last2=Stilgenbauer|first2=S.|last3=Benner|first3=A.|last4=Leupolt|first4=E.|last5=Kröber|first5=A.|last6=Bullinger|first6=L.|last7=Döhner|first7=K.|last8=Bentz|first8=M.|last9=Lichter|first9=P.|date=2000-12-28|title=Genomic aberrations and survival in chronic lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11136261|journal=The New England Journal of Medicine|volume=343|issue=26|pages=1910–1916|doi=10.1056/NEJM200012283432602|issn=0028-4793|pmid=11136261}}</ref>.

|Yes

|Yes

|No

|No

|Can also be detected in the homozygous state. Biallelic deletions are often cryptic and not cytogenetically visible<ref>{{Cite journal|last=Migliazza|first=A.|last2=Bosch|first2=F.|last3=Komatsu|first3=H.|last4=Cayanis|first4=E.|last5=Martinotti|first5=S.|last6=Toniato|first6=E.|last7=Guccione|first7=E.|last8=Qu|first8=X.|last9=Chien|first9=M.|date=2001-04-01|title=Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11264177|journal=Blood|volume=97|issue=7|pages=2098–2104|doi=10.1182/blood.v97.7.2098|issn=0006-4971|pmid=11264177}}</ref>. 13q deletion as the sole abnormality is typically associated with a good prognosis, however, CLL with a high percentage of nuclei with 13q deletion may have a more aggressive clinical course<ref>{{Cite journal|last=Dal Bo|first=Michele|last2=Rossi|first2=Francesca Maria|last3=Rossi|first3=Davide|last4=Deambrogi|first4=Clara|last5=Bertoni|first5=Francesco|last6=Del Giudice|first6=Ilaria|last7=Palumbo|first7=Giuseppe|last8=Nanni|first8=Mauro|last9=Rinaldi|first9=Andrea|date=2011-08|title=13q14 deletion size and number of deleted cells both influence prognosis in chronic lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21563234|journal=Genes, Chromosomes & Cancer|volume=50|issue=8|pages=633–643|doi=10.1002/gcc.20885|issn=1098-2264|pmid=21563234}}</ref>

|Can also be detected in the homozygous state. Biallelic deletions are often cryptic and not cytogenetically visible<ref>{{Cite journal|last=Migliazza|first=A.|last2=Bosch|first2=F.|last3=Komatsu|first3=H.|last4=Cayanis|first4=E.|last5=Martinotti|first5=S.|last6=Toniato|first6=E.|last7=Guccione|first7=E.|last8=Qu|first8=X.|last9=Chien|first9=M.|date=2001-04-01|title=Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11264177|journal=Blood|volume=97|issue=7|pages=2098–2104|doi=10.1182/blood.v97.7.2098|issn=0006-4971|pmid=11264177}}</ref>. 13q deletion as the sole abnormality is typically associated with a good prognosis, however, CLL with a high percentage of nuclei with 13q deletion may have a more aggressive clinical course<ref>{{Cite journal|last=Dal Bo|first=Michele|last2=Rossi|first2=Francesca Maria|last3=Rossi|first3=Davide|last4=Deambrogi|first4=Clara|last5=Bertoni|first5=Francesco|last6=Del Giudice|first6=Ilaria|last7=Palumbo|first7=Giuseppe|last8=Nanni|first8=Mauro|last9=Rinaldi|first9=Andrea|date=2011-08|title=13q14 deletion size and number of deleted cells both influence prognosis in chronic lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21563234|journal=Genes, Chromosomes & Cancer|volume=50|issue=8|pages=633–643|doi=10.1002/gcc.20885|issn=1098-2264|pmid=21563234}}</ref>

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|11q22.3 deletion

|11q22.3 deletion

|Unknown

|Unknown

|No

|No

|Conflicting evidence on prognostic significance. As a sole abnormality may be associated with low risk. Associated with intermediate risk if NOTCH1 mutation is present<ref name=":8" />

|Conflicting evidence on prognostic significance. As a sole abnormality may be associated with low risk. Associated with intermediate risk if ''NOTCH1'' mutation is present<ref name=":8" />

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|6q21 deletion

|6q21 deletion

*IGHV genes are mutated in 50-70% of cases and unmutated in 30-50%.

*IGHV genes are mutated in 50-70% of cases and unmutated in 30-50%.

*Unmutated IGHV genes have been shown to have a poorer prognosis, along with TP53, BIRC3, NOTCH1, and SF3B1 mutations.

*Unmutated IGHV genes have been shown to have a poorer prognosis, along with ''TP53'', ''BIRC3'', ''NOTCH1'', and ''SF3B1'' mutations.

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