Autochecked users, Comment administrators, Editors, Interface administrators, Reviewers, Suppressors, Administrators, Widget editors
1,876
edits
Changes
HAEM4:Myeloid Leukemia Associated with Down Syndrome (view source)
Revision as of 16:29, 4 December 2023
, 16:29, 4 December 2023no edit summary
{{DISPLAYTITLE:Myeloid Leukemia Associated with Down Syndrome}}
<blockquote class='blockedit'>{{Box-round|title=PREVIOUS EDITION|This page from the 4th edition of Haematolymphoid Tumours is being updated. See 5th edition [[HAEM5:Table_of_Contents|Table of Contents]].
}}</blockquote>
==Primary Author(s)*==
==Primary Author(s)*==
[[AML|Acute Myeloid Leukemia]]
[[AML|Acute Myeloid Leukemia]]
[[Myeloid Proliferations Associated with Down Syndrome]]
[[HAEM4:Myeloid Proliferations Associated with Down Syndrome]]
==Cancer Sub-Classification / Subtype==
==Cancer Sub-Classification / Subtype==
==Definition / Description of Disease==
==Definition / Description of Disease==
This is a distinct entity in the World Health Organization (WHO) classification system within the section of [[Myeloid Proliferations Associated with Down Syndrome]]<ref name=":0">Arber DA, et al., (2017). Myeloid proliferations associated with Down syndrome, 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. IARC Press: Lyon, France, p170-171.</ref>.
This is a distinct entity in the World Health Organization (WHO) classification system within the section of [[HAEM4:Myeloid Proliferations Associated with Down Syndrome]]<ref name=":0">Arber DA, et al., (2017). Myeloid proliferations associated with Down syndrome, 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. IARC Press: Lyon, France, p170-171.</ref>.
In Down Syndrome (DS), most cases of AML are acute megakaryoblastic leukemia (AMKL). AMKL accounts for >50% of all cases of acute leukemia in DS beyond the neonatal period. AML often follows a myelodysplastic syndrome (MDS)-like phase. In DS individuals, there is no biological difference between MDS and overt AML<ref name=":0" />.
In Down Syndrome (DS), most cases of AML are acute megakaryoblastic leukemia (AMKL). AMKL accounts for >50% of all cases of acute leukemia in DS beyond the neonatal period. AML often follows a myelodysplastic syndrome (MDS)-like phase. In DS individuals, there is no biological difference between MDS and overt AML<ref name=":0" />.
Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) characterized by abnormal megakaryoblasts that express platelet-specific surface glycoprotein. Bone marrow biopsy frequently demonstrates extensive myelofibrosis, often making aspiration in these patients difficult. AMKL comprises between 4% and 15% of pediatric AML patients. It is divided into 2 major subgroups: AMKL in patients with Down syndrome (DS-AMKL) and AMKL in patients without DS (non-DS-AMKL). AMKL is the most frequent type of AML in children with DS, and the incidence in these patients is 500-fold higher than in the general population.
Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) characterized by abnormal megakaryoblasts that express platelet-specific surface glycoprotein. Bone marrow biopsy frequently demonstrates extensive myelofibrosis, often making aspiration in these patients difficult. AMKL comprises between 4% and 15% of pediatric AML patients. It is divided into 2 major subgroups: AMKL in patients with Down syndrome (DS-AMKL) and AMKL in patients without DS (non-DS-AMKL). AMKL is the most frequent type of AML in children with DS, and the incidence in these patients is 500-fold higher than in the general population.
DS-AMKL is biologically and clinically distinct from non-DS-AMKL. Pediatric '''''non'''''-DS-AMKL (i.e. AMKL NOT associated with Down syndrome) occurs in a heterogenous group of patients, a significant proportion of whom carry chimeric oncogenes including RBM15-MKL1, which represents the distinct entity [http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_Megakaryoblastic_with_t(1;22)(p13.3;q13.1);RBM15-MKL1 Acute Myeloid Leukemia (AML) Megakaryoblastic with t(1;22)(p13.3;q13.1);RBM15-MKL1], CBFA2T3-GLIS2, NUP98-KDM5A, and [[KMT2A]](MLL) rearrangements, which are not found in DS-AMKL<ref name=":1">{{Cite journal|last=Gruber|first=Tanja A.|last2=Downing|first2=James R.|date=2015|title=The biology of pediatric acute megakaryoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/26186939|journal=Blood|volume=126|issue=8|pages=943–949|doi=10.1182/blood-2015-05-567859|issn=1528-0020|pmc=4551356|pmid=26186939}}</ref>.
DS-AMKL is biologically and clinically distinct from non-DS-AMKL. Pediatric '''''non'''''-DS-AMKL (i.e. AMKL NOT associated with Down syndrome) occurs in a heterogenous group of patients, a significant proportion of whom carry chimeric oncogenes including RBM15-MKL1, which represents the distinct entity [http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_RBM15::MRTFA_fusion Acute Myeloid Leukemia (AML) Megakaryoblastic with t(1;22)(p13.3;q13.1);RBM15-MKL1], CBFA2T3-GLIS2, NUP98-KDM5A, and [[KMT2A]](MLL) rearrangements, which are not found in DS-AMKL<ref name=":1">{{Cite journal|last=Gruber|first=Tanja A.|last2=Downing|first2=James R.|date=2015|title=The biology of pediatric acute megakaryoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/26186939|journal=Blood|volume=126|issue=8|pages=943–949|doi=10.1182/blood-2015-05-567859|issn=1528-0020|pmc=4551356|pmid=26186939}}</ref>.
==Synonyms / Terminology==
==Synonyms / Terminology==
==Other Information==
==Other Information==
Also see: [http://www.ccga.io/index.php/Transient_Abnormal_Myelopoiesis_(TAM)_Associated_with_Down_Syndrome Transient Abnormal Myelopoiesis (TAM) Associated with Down Syndrome]
Also see: [http://www.ccga.io/index.php/HAEM5:Myeloid_proliferations_associated_with_Down_syndrome Transient Abnormal Myelopoiesis (TAM) Associated with Down Syndrome]
==Links==
==Links==
==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
[[Category:HAEM4]] [[Category:DISEASE]]
[[Category:Recently Added Pages]]