Difference between revisions of "Acute Erythroid Leukemia"

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Latest revision as of 13:45, 12 December 2023

Primary Author(s)*

Ashwini Yenamandra PhD FACMG

Cancer Category/Type

Acute Myeloid Leukemia

Cancer Sub-Classification / Subtype

In the 2008 WHO classification, Acute Erythroid leukemia (AEL) was classified into two subtypes: Erythroleukemia (erythroid/myeloid) and Pure Erythroid Leukemia (PEL). However, in the 2016 WHO update, Erythroleukemia was merged into myelodysplastic syndrome, while PEL is now the only type of AEL [1-12].

Definition / Description of Disease

PEL is a rare form of acute leukemia with an aggressive clinical course and is characterized by an uncontrolled proliferation of immature erythroid precursors (proerythroblastic or undifferentiated) [1-12]. Erythroleukemia (erythroid/myeloid) may be de novo or evolved from myeloid or sometimes from myeloproliferative neoplasms (MPN) [1,10].

Links

HAEM5:Acute erythroid leukaemia

References

1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.

2. Shaowei Qiu, et al., (2017). An analysis of 97 previously diagnosed de novo adult acute erythroid leukemia patients following the 2016 revision to World Health Organization classification. BMC Cancer 17: 544, PMID 28793875.

3. Zhuang Zuo, et al., (2010). Acute Erythroid Leukemia (Review Article). Arch Pathol Lab Med 134:1261-1270, PMID 20807044.

4. Arber DA, et al., (2016). The updated WHO classification of Hematological malignancies. The 2016 revision to the World Health organization classification of myeloid neoplasms and acute leukemia (Review Series). Blood 127(20):2391-2405, PMID 27069254.

5. Zuo Z, et al., (2012). Acute myeloid leukemia (AML) with erythroid predominance exhibits clinical and molecular characteristics that differ from other types of AML. PLoS One 7(7):e41485, PMID 22844482.

6. Grossmann V, et al., (2013). Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics. Leukemia 27(9): 1940-1943, PMID 23648669.

7. Porwit A, et al., (2011). Acute myeloid leukemia with expanded erythropoiesis. Haematologica 96(9):1241-1243, PMID 21880638.

8. Hasserjian RP, et al., (2010). Acute erythroid leukemia: a reassessment using criteria refined in the 2008 WHO classification. Blood 115(10):1985-1992, PMID 20040759.

9. Wang SA, et al., (2015). Acute erythroleukemias, acute megakaryoblastic leukemias, and reactive mimics: a guide to a number of perplexing entities. Am J Clin Pathol 144(1):44-60, PMID 26071461.

10. Wang W, et al., (2016). Acute Erythroid Leukemia. Am J Hematol. 2017; 92:292–296, PMID 2800685.

11. Yenamandra A, et al., (2016). Acute Erythroblastic Leukemia (AEL): A rare subset of de novo AML with a complex rearrangement involving ETV6 locus and loss of RB1 locus. Int Clin Pathol J 2(2): 00032, DOI: 10.15406/icpjl.2016.02.00032.

12. Fauzia SF, et al., (2017). Pure erythroid leukemia: The sole acute erythroid leukemia. Int J Bone Marrow Res 1: 001-05 (open access).

Notes

*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.

@@ Line 1: / Line 1: @@
-{{Under Construction}}
 ==Primary Author(s)*==
 Ashwini Yenamandra PhD FACMG
 __TOC__
@@ Line 9: / Line 7: @@
 ==Cancer Category/Type==
-Acute Myeloid Leukemia
+[[AML|Acute Myeloid Leukemia]]
 ==Cancer Sub-Classification / Subtype==
-Pure Erythroid Leukemia (PEL) is the only subtype in Acute Erythroid Leukemia (AEL).
+In the 2008 WHO classification, Acute Erythroid leukemia (AEL) was classified into two subtypes: Erythroleukemia (erythroid/myeloid) and Pure Erythroid Leukemia (PEL). However, in the 2016 WHO update, Erythroleukemia was merged into myelodysplastic syndrome, while PEL is now the only type of AEL [1-12].
 ==Definition / Description of Disease==
-In the 2008 WHO classification Acute Erythroid leukemia (AEL) was classified into two subtypes, one subtype was Erythroleukemia and second subtype was pure erythroid leukemia (PEL).
+PEL is a rare form of acute leukemia with an aggressive clinical course and is characterized by an uncontrolled proliferation of immature erythroid precursors (proerythroblastic or undifferentiated) [1-12].  Erythroleukemia (erythroid/myeloid) may be de novo or evolved from myeloid or sometimes from myeloproliferative neoplasms (MPN) [1,10].
-However, in the 2016 WHO update, erythroleukemia was merged into myelodysplastic syndrome, and PEL was described as the only subtype of AEL [1-12]
-PEL is a rare form of acute leukemia with an aggressive clinical course and is characterized by an uncontrolled proliferation of immature erythroid precursors (proerythroblastic or undifferentiated) [1-12].
+==Links==
-==Synonyms / Terminology==
+*[[HAEM5:Acute erythroid leukaemia]]
-Also known as Di Guglielmo syndrome due to the recognition of the work of Di Guglielmo. [1, 2].
+==References==
-==Epidemiology / Prevalence==
-Put your text here
-==Clinical Features==
-Put your text here
-==Sites of Involvement==
-Put your text here
-==Morphologic Features==
-Put your text here
-==Immunophenotype==
-Put your text here and/or fill in the table
-{| class="wikitable sortable"
-|-
-! Finding   !! Marker
-|-
-|Positive (universal) || EXAMPLE CD1
-|-
-|Positive (subset) || EXAMPLE CD2
-|-
-|Negative (universal) || EXAMPLE CD3
-|-
-|Negative (subset) || EXAMPLE CD4
-|}
-==Chromosomal Rearrangements (Gene Fusions)==
-Put your text here and/or fill in the table
-{| class="wikitable sortable"
-|-
-! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
-|-
-|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
-|-
-|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
-|}
-==Characteristic Chromosomal Aberrations / Patterns==
-Put your text here
-==Genomic Gain/Loss/LOH==
-Put your text here and/or fill in the table
-{| class="wikitable sortable"
-|-
-! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
-|-
-|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
-|-
-|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
-|}
-==Gene Mutations (SNV/INDEL)==
-Put your text here and/or fill in the tables
-{| class="wikitable sortable"
+. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.
-|-
-! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
-|-
-| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
-|}
-===Other Mutations===
-{| class="wikitable sortable"
-|-
-! Type !! Gene/Region/Other
-|-
-| Concomitant Mutations || EXAMPLE IDH1 R123H
-|-
-| Secondary Mutations || EXAMPLE Trisomy 7
-|-
-|Mutually Exclusive || EXAMPLE EGFR Amplification
-|}
-==Epigenomics (Methylation)==
+. Shaowei Qiu, et al., (2017). An analysis of 97 previously diagnosed de novo adult acute erythroid leukemia patients following the 2016 revision to World Health Organization classification. BMC Cancer 17: 544, PMID 28793875.
-Put your text here
+. Zhuang Zuo, et al., (2010). Acute Erythroid Leukemia (Review Article). Arch Pathol Lab Med 134:1261-1270, PMID 20807044.
-==Genes and Main Pathways Involved==
+. Arber DA, et al., (2016). The updated WHO classification of Hematological malignancies. The 2016 revision to the World Health organization classification of myeloid neoplasms and acute leukemia (Review Series). Blood 127(20):2391-2405, PMID 27069254.
-Put your text here
+. Zuo Z, et al., (2012). Acute myeloid leukemia (AML) with erythroid predominance exhibits clinical and molecular characteristics that differ from other types of AML. PLoS One 7(7):e41485, PMID 22844482.
-==Diagnostic Testing Methods==
+. Grossmann V, et al., (2013). Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics. Leukemia 27(9): 1940-1943, PMID 23648669.
-Put your text here
+. Porwit A, et al., (2011). Acute myeloid leukemia with expanded erythropoiesis. Haematologica 96(9):1241-1243, PMID 21880638.
-==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
+. Hasserjian RP, et al., (2010). Acute erythroid leukemia: a reassessment using criteria refined in the 2008 WHO classification. Blood 115(10):1985-1992, PMID 20040759.
-Put your text here
+. Wang SA, et al., (2015). Acute erythroleukemias, acute megakaryoblastic leukemias, and reactive mimics: a guide to a number of perplexing entities. Am J Clin Pathol 144(1):44-60, PMID 26071461.
-==Familial Forms==
+. Wang W, et al., (2016). Acute Erythroid Leukemia. Am J Hematol. 2017; 92:292–296, PMID 2800685.
-Put your text here
-==Other Information==
-Put your text here
-==Links==
-Put your links here
-==References==
-=== EXAMPLE Book ===
+. Yenamandra A, et al., (2016). Acute Erythroblastic Leukemia (AEL): A rare subset of de novo AML with a complex rearrangement involving ETV6 locus and loss of RB1 locus. Int Clin Pathol J 2(2): 00032, DOI: 10.15406/icpjl.2016.02.00032.
-#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
-=== EXAMPLE Journal Article ===
+. Fauzia SF, et al., (2017). Pure erythroid leukemia: The sole acute erythroid leukemia. Int J Bone Marrow Res 1: 001-05 (open access).
-#Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
-== 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.