HAEM5:Acute myeloid leukaemia with BCR::ABL1 fusion: Difference between revisions
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|chr7 | |chr7 | ||
|''IKZF1,'' TR Beta Chain (TRB) genes<!-- Pls advice if this is correct, thx --> | |''IKZF1,'' TR Beta Chain (TRB) genes<!-- Pls advice if this is correct, thx --> | ||
|D,P | |D,P | ||
|No | |No | ||
|Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML<ref name=":6" />. | |Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML<ref name=":6" />. | ||
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|chr8 | |chr8 | ||
|Unknown | |Unknown | ||
|D,P | |D,P | ||
|No | |No | ||
|Common recurrent secondary finding for t(8;21)<ref>{{Cite journal|last=Jakovic|first=Ljubomir|last2=Fekete|first2=Marija Dencic|last3=Virijevic|first3=Marijana|last4=Kurtovic|first4=Nada Kraguljac|last5=Todoric-Zivanovic|first5=Biljana|last6=Stamatovic|first6=Dragana|last7=Karan-Djurasevic|first7=Teodora|last8=Pavlovic|first8=Sonja|last9=Lekovic|first9=Danijela|date=2022-09-01|title=De novo acute myeloid leukemia harboring concomitant t(8;21)(q22;q22);RUNX1::RUNX1T1 and BCR::ABL1 (p190 minor transcript)|url=https://link.springer.com/article/10.1007/s12308-022-00509-4|journal=Journal of Hematopathology|language=en|volume=15|issue=3|pages=191–195|doi=10.1007/s12308-022-00509-4|issn=1865-5785}}</ref><ref>{{Cite journal|last=Singh|first=Manish K.|last2=Gupta|first2=Ruchi|last3=Rahman|first3=Khaliqur|last4=Kumar|first4=Sanjeev|last5=Sharma|first5=Akhilesh|last6=Nityanand|first6=Soniya|date=2017-03-01|title=Co-existence of AML1-ETO and BCR-ABL1 transcripts in a relapsed patient of acute myeloid leukemia with favorable risk group: A coincidence or clonal evolution?|url=https://www.sciencedirect.com/science/article/pii/S1658387616000054|journal=Hematology/Oncology and Stem Cell Therapy|volume=10|issue=1|pages=39–41|doi=10.1016/j.hemonc.2015.12.003|issn=1658-3876}}</ref>. | |Common recurrent secondary finding for t(8;21)<ref>{{Cite journal|last=Jakovic|first=Ljubomir|last2=Fekete|first2=Marija Dencic|last3=Virijevic|first3=Marijana|last4=Kurtovic|first4=Nada Kraguljac|last5=Todoric-Zivanovic|first5=Biljana|last6=Stamatovic|first6=Dragana|last7=Karan-Djurasevic|first7=Teodora|last8=Pavlovic|first8=Sonja|last9=Lekovic|first9=Danijela|date=2022-09-01|title=De novo acute myeloid leukemia harboring concomitant t(8;21)(q22;q22);RUNX1::RUNX1T1 and BCR::ABL1 (p190 minor transcript)|url=https://link.springer.com/article/10.1007/s12308-022-00509-4|journal=Journal of Hematopathology|language=en|volume=15|issue=3|pages=191–195|doi=10.1007/s12308-022-00509-4|issn=1865-5785}}</ref><ref>{{Cite journal|last=Singh|first=Manish K.|last2=Gupta|first2=Ruchi|last3=Rahman|first3=Khaliqur|last4=Kumar|first4=Sanjeev|last5=Sharma|first5=Akhilesh|last6=Nityanand|first6=Soniya|date=2017-03-01|title=Co-existence of AML1-ETO and BCR-ABL1 transcripts in a relapsed patient of acute myeloid leukemia with favorable risk group: A coincidence or clonal evolution?|url=https://www.sciencedirect.com/science/article/pii/S1658387616000054|journal=Hematology/Oncology and Stem Cell Therapy|volume=10|issue=1|pages=39–41|doi=10.1016/j.hemonc.2015.12.003|issn=1658-3876}}</ref>. | ||
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Additional chromosomal aberrations are infrequently seen in BCR-ABL AML, it has been described together with different class II aberrations such as CBFB-MYH11, RUNX1- RUNX1T1 and PML-RARA<ref name=":2" />. In AML, BCR-ABL1 seems to cooperate with several AML-specific aberrations such as inv(16), t(8;21) and myelodysplasia-related cytogenetic aberrations<ref name=":2" /><ref>{{Cite journal|last=Bacher|first=Ulrike|last2=Haferlach|first2=Torsten|last3=Alpermann|first3=Tamara|last4=Zenger|first4=Melanie|last5=Hochhaus|first5=Andreas|last6=Beelen|first6=Dietrich W.|last7=Uppenkamp|first7=Michael|last8=Rummel|first8=Mathias|last9=Kern|first9=Wolfgang|date=2011|title=Subclones with the t(9;22)/BCR-ABL1 rearrangement occur in AML and seem to cooperate with distinct genetic alterations|url=https://www.ncbi.nlm.nih.gov/pubmed/21275954|journal=British Journal of Haematology|volume=152|issue=6|pages=713–720|doi=10.1111/j.1365-2141.2010.08472.x|issn=1365-2141|pmid=21275954}}</ref>. (For diagnostic purpose, note that inv(16) is not restricted to AML and can also be found in CML-MBC). Additional chromosomal aberrations, such as an additional Ph chromosome, trisomy 19 and isochromosome 17q seen in CML MBP are infrequently seen in AML with ''BCR::ABL1.'' | Additional chromosomal aberrations are infrequently seen in BCR-ABL AML, it has been described together with different class II aberrations such as CBFB-MYH11, RUNX1- RUNX1T1 and PML-RARA<ref name=":12" /><ref name=":2" />. In AML, BCR-ABL1 seems to cooperate with several AML-specific aberrations such as inv(16), t(8;21) and myelodysplasia-related cytogenetic aberrations<ref name=":2" /><ref name=":12">{{Cite journal|last=Bacher|first=Ulrike|last2=Haferlach|first2=Torsten|last3=Alpermann|first3=Tamara|last4=Zenger|first4=Melanie|last5=Hochhaus|first5=Andreas|last6=Beelen|first6=Dietrich W.|last7=Uppenkamp|first7=Michael|last8=Rummel|first8=Mathias|last9=Kern|first9=Wolfgang|date=2011|title=Subclones with the t(9;22)/BCR-ABL1 rearrangement occur in AML and seem to cooperate with distinct genetic alterations|url=https://www.ncbi.nlm.nih.gov/pubmed/21275954|journal=British Journal of Haematology|volume=152|issue=6|pages=713–720|doi=10.1111/j.1365-2141.2010.08472.x|issn=1365-2141|pmid=21275954}}</ref>. (For diagnostic purpose, note that inv(16) is not restricted to AML and can also be found in CML-MBC). Additional chromosomal aberrations, such as an additional Ph chromosome, trisomy 19 and isochromosome 17q seen in CML MBP are infrequently seen in AML with ''BCR::ABL1.'' | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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|inv(16)(p13.1q22) or t(16;16)(p13.1;q22) | |inv(16)(p13.1q22) or t(16;16)(p13.1;q22) | ||
|CBFB::MYH11 fusion | |CBFB::MYH11 fusion | ||
| | |Rare (BCR-ABL1 AML) | ||
| | |D,P | ||
| | |No | ||
| | |The rarity of Philadelphia-positive subclones in AML patients with specific genetic lesions requires more cases for conclusive prognosis and therapeutic insights<ref name=":12" />. | ||
|- | |- | ||
|t(8;21)(q22;q22.1) | |t(8;21)(q22;q22.1) | ||
|RUNX1- RUNX1T1 | |RUNX1- RUNX1T1 | ||
| | |Rare (BCR-ABL1 AML) | ||
| | |D,P | ||
| | |No | ||
| | |The rarity of Philadelphia-positive subclones in AML patients with specific genetic lesions requires more cases for conclusive prognosis and therapeutic insights<ref name=":12" />. | ||
|- | |- | ||
|t(15;17)(q13.4;q21.2) | |t(15;17)(q13.4;q21.2) | ||
|PML-RARA | |PML-RARA | ||
| | |Rare (BCR-ABL1 AML) | ||
| | |D,P | ||
| | |No | ||
| | |The rarity of Philadelphia-positive subclones in AML patients with specific genetic lesions requires more cases for conclusive prognosis and therapeutic insights<ref name=":12" />. | ||
|- | |- | ||
|AML-myelodysplasia-related (AML-MR) cytogenetic aberrations: | |AML-myelodysplasia-related (AML-MR) cytogenetic aberrations: | ||
• | • del(5q), t(5q) | ||
• | • inv(3)(q21q26) | ||
• ‐7, del(7q) | • ‐7, del(7q) | ||
| Line 177: | Line 177: | ||
• idic(X)(q13) | • idic(X)(q13) | ||
| | |Unknown | ||
| | |Rare (BCR-ABL1 AML) | ||
| | |D,P | ||
| | |No | ||
| | |The rarity of Philadelphia-positive subclones in AML patients with specific genetic lesions requires more cases for conclusive prognosis and therapeutic insights<ref name=":12" />. | ||
In AML, BCR-ABL appears to interact with specific aberrations like inv(16) and myelodysplasia-related cytogenetic changes, but the mechanisms of disease initiation and cooperation remain unclear<ref name=":2" />. | |||
|}<br /> | |}<br /> | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
* ''RUNX1'' mutation is common in AML with ''BCR::ABL1'' and occurs in ~40% of cases (Genes Chromosomes Cancer 2021;60:426) | *''RUNX1'' mutation is common in AML with ''BCR::ABL1'' and occurs in ~40% of cases (Genes Chromosomes Cancer 2021;60:426) | ||
* Mutations of ''NPM1, FLT3'' or ''DNMT3A'' are not commonly detected (Genes Chromosomes Cancer 2021;60:426) | *Mutations of ''NPM1, FLT3'' or ''DNMT3A'' are not commonly detected (Genes Chromosomes Cancer 2021;60:426) | ||
* Other mutated genes include ''ASXL1, BCOR, IDH1 / IDH2'' and ''SRSF2''; each of these occur in 10 - 15% of cases (Leuk Lymphoma 2013;54:138, Leukemia 2017;31:2211, Genes Chromosomes Cancer 2021;60:426) | *Other mutated genes include ''ASXL1, BCOR, IDH1 / IDH2'' and ''SRSF2''; each of these occur in 10 - 15% of cases (Leuk Lymphoma 2013;54:138, Leukemia 2017;31:2211, Genes Chromosomes Cancer 2021;60:426) | ||