HAEM5:Acute myeloid leukaemia with RBM15::MRTFA fusion: Difference between revisions

[checked revision]

← Older edit Newer edit →

VisualWikitext

@@ Line 40: / Line 40: @@
 |-
 |WHO Desirable Criteria (Genetics)*
-|Detection of t(1;22)(p13.3;q13.1) by karyotype analyssi
+|Detection of t(1;22)(p13.3;q13.1) by karyotype analysis
 |-
 |Other Classification
@@ Line 73: / Line 73: @@
 |
 *This AML subtype is characterized by megakaryocytic differentiation and is classified based on the presence by karyotype of a t(1;22)(p13.3;q13.1) or molecular confirmation of fusion of ''RBM15''(''OTT'') at 1p13.3 [hg38] and ''MKL1''(''MAL'') at 22q13.1 [hg38] with variable breakpoints<ref name=":1">{{Cite journal|last=Ma|first=Z.|last2=Morris|first2=S. W.|last3=Valentine|first3=V.|last4=Li|first4=M.|last5=Herbrick|first5=J. A.|last6=Cui|first6=X.|last7=Bouman|first7=D.|last8=Li|first8=Y.|last9=Mehta|first9=P. K.|date=2001|title=Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/11431691|journal=Nature Genetics|volume=28|issue=3|pages=220–221|doi=10.1038/90054|issn=1061-4036|pmid=11431691}}</ref><ref name=":3">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024.  Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal|last=Khoury|first=Joseph D.|last2=Solary|first2=Eric|last3=Abla|first3=Oussama|last4=Akkari|first4=Yassmine|last5=Alaggio|first5=Rita|last6=Apperley|first6=Jane F.|last7=Bejar|first7=Rafael|last8=Berti|first8=Emilio|last9=Busque|first9=Lambert|date=2022-07|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/35732831|journal=Leukemia|volume=36|issue=7|pages=1703–1719|doi=10.1038/s41375-022-01613-1|issn=1476-5551|pmc=9252913|pmid=35732831}}</ref>.  Although both reciprocal fusions are expressed, the in-frame ''RBM15''::''MKL1'' fusion on the derivative chromosome 22 is the candidate oncoprotein because it contains all of the putative functional domains of both proteins<ref name=":1" />.
-*The ''RBM15''::''MKL1'' fusion typically presents as the sole abnormality<ref name=":3" />. A hyperdiploid karyotype with t(1;22) and +der(1)t(1;22) can be observed less frequently, typically in infants aged >6 months<ref>{{Cite journal|last=Carroll|first=A.|last2=Civin|first2=C.|last3=Schneider|first3=N.|last4=Dahl|first4=G.|last5=Pappo|first5=A.|last6=Bowman|first6=P.|last7=Emami|first7=A.|last8=Gross|first8=S.|last9=Alvarado|first9=C.|date=1991-08-01|title=The t(1;22) (p13;q13) is nonrandom and restricted to infants with acute megakaryoblastic leukemia: a Pediatric Oncology Group Study|url=https://pubmed.ncbi.nlm.nih.gov/1859887|journal=Blood|volume=78|issue=3|pages=748–752|issn=0006-4971|pmid=1859887}}</ref>. Pediatric non-Down syndrome AMKL can arise through other genetic mechanisms that are unrelated to
+*The ''RBM15''::''MKL1'' fusion typically presents as the sole abnormality<ref name=":3" />. A hyperdiploid karyotype with t(1;22) and +der(1)t(1;22) can be observed less frequently, typically in infants aged >6 months<ref>{{Cite journal|last=Carroll|first=A.|last2=Civin|first2=C.|last3=Schneider|first3=N.|last4=Dahl|first4=G.|last5=Pappo|first5=A.|last6=Bowman|first6=P.|last7=Emami|first7=A.|last8=Gross|first8=S.|last9=Alvarado|first9=C.|date=1991-08-01|title=The t(1;22) (p13;q13) is nonrandom and restricted to infants with acute megakaryoblastic leukemia: a Pediatric Oncology Group Study|url=https://pubmed.ncbi.nlm.nih.gov/1859887|journal=Blood|volume=78|issue=3|pages=748–752|issn=0006-4971|pmid=1859887}}</ref>. Pediatric non-Down syndrome AMKL can arise through other genetic mechanisms that are unrelated to the ''RBM15''::''MKL1'' fusion<ref name=":4" /><ref>{{Cite journal|last=de Rooij|first=Jasmijn D. E.|last2=Branstetter|first2=Cristyn|last3=Ma|first3=Jing|last4=Li|first4=Yongjin|last5=Walsh|first5=Michael P.|last6=Cheng|first6=Jinjun|last7=Obulkasim|first7=Askar|last8=Dang|first8=Jinjun|last9=Easton|first9=John|date=2017-03|title=Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes|url=https://pubmed.ncbi.nlm.nih.gov/28112737|journal=Nature Genetics|volume=49|issue=3|pages=451–456|doi=10.1038/ng.3772|issn=1546-1718|pmc=5687824|pmid=28112737}}</ref>.
 *The t(1;22) occurs in <1% of all AML cases and 10-12% of pediatric acute megakaryoblastic leukemia cases<ref name=":4" />. It is most frequent in infants (<6 months old) and young children (<3 years old) with Down syndrome and has a female predominance. Rarely it occurs in adults<ref>{{Cite journal|last=Hsiao|first=Hui-Hua|last2=Yang|first2=Ming-Yu|last3=Liu|first3=Yi-Chang|last4=Hsiao|first4=Hui-Pin|last5=Tseng|first5=Shih-Bin|last6=Chao|first6=Mei-Chyn|last7=Liu|first7=Ta-Chih|last8=Lin|first8=Sheng-Fung|date=2005-05|title=RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient|url=https://pubmed.ncbi.nlm.nih.gov/15849773|journal=American Journal of Hematology|volume=79|issue=1|pages=43–45|doi=10.1002/ajh.20298|issn=0361-8609|pmid=15849773}}</ref><ref>{{Cite journal|last=Saito|first=Yo|last2=Makita|first2=Shinichi|last3=Chinen|first3=Shotaro|last4=Kito|first4=Momoko|last5=Fujino|first5=Takahiro|last6=Ida|first6=Hanae|last7=Hosoba|first7=Rika|last8=Tanaka|first8=Takashi|last9=Fukuhara|first9=Suguru|date=2020-09|title=Acute megakaryoblastic leukaemia with t(1;22)(p13·3;q13·1)/RBM15-MKL1 in an adult patient following a non-mediastinal germ cell tumour|url=https://pubmed.ncbi.nlm.nih.gov/32572949|journal=British Journal of Haematology|volume=190|issue=6|pages=e329–e332|doi=10.1111/bjh.16900|issn=1365-2141|pmid=32572949}}</ref>.
@@ Line 138: / Line 138: @@
 ==Genes and Main Pathways Involved==
-The molecular mechanism is not completely understand, but the fusion protein may modulate chromatin organization, HOX-induced differentiation and extracellular signaling pathways<ref name=":0">Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p139-140.</ref><ref name=":1" />.
+The molecular mechanism is not completely understood, but the fusion protein may modulate chromatin organization, HOX-induced differentiation and extracellular signaling pathways<ref name=":1" /><ref name=":3" />.
-Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
 {| class="wikitable sortable"
 |-