HAEM5:Acute basophilic leukaemia: Difference between revisions

{{DISPLAYTITLE:Acute basophilic leukaemia}}

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==Primary Author(s)*==

==Clinical Features==

{| class="wikitable"

|'''Signs and Symptoms'''

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|'''Laboratory Findings'''

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Clinical features include bone marrow failure and may or may not have circulating blasts.  Cutaneous involvement, oraganomegaly, lytic lesions and symptoms related to hyperhistanemia may be present<ref name=":0" />.

!Notes

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|Yes

|No

|Yes

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).

No consistent chromosomal abnormalities have been reported in ABL due to its rarity<ref name=":3">Yenamandra A, et al., (2014). Acute basophilic leukemia, a rare subset of de novo AML with an abnormal tetraploid karyotype. JSM Cell Dev Biol 2(1):1007.  Available online at <nowiki>https://www.academia.edu/28924195/Editorial_Article_Acute_Basophilic_Leukemia_a_Rare_Subset_of_De_Novo_AML_with_an_Abnormal_Tetraploid_Karyotype</nowiki>.</ref><ref name=":4">{{Cite journal|last=Dastugue|first=N.|last2=Duchayne|first2=E.|last3=Kuhlein|first3=E.|last4=Rubie|first4=H.|last5=Demur|first5=C.|last6=Aurich|first6=J.|last7=Robert|first7=A.|last8=Sie|first8=P.|date=1997|title=Acute basophilic leukaemia and translocation t(X;6)(p11;q23)|url=https://www.ncbi.nlm.nih.gov/pubmed/9233581|journal=British Journal of Haematology|volume=98|issue=1|pages=170–176|doi=10.1046/j.1365-2141.1997.1562968.x|issn=0007-1048|pmid=9233581}}</ref><ref name=":5">{{Cite journal|last=Quelen|first=Cathy|last2=Lippert|first2=Eric|last3=Struski|first3=Stephanie|last4=Demur|first4=Cécile|last5=Soler|first5=Gwendoline|last6=Prade|first6=Nais|last7=Delabesse|first7=Eric|last8=Broccardo|first8=Cyril|last9=Dastugue|first9=Nicole|date=2011|title=Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants|url=https://www.ncbi.nlm.nih.gov/pubmed/21474671|journal=Blood|volume=117|issue=21|pages=5719–5722|doi=10.1182/blood-2011-01-333013|issn=1528-0020|pmid=21474671}}</ref>.  Rearrangement of MYB/GATA1 with t(X;6)(p11;q23) has been reported in four male infants<ref name=":4" /><ref name=":5" />.  The fusion gene leads to downregulation of ''MYB'', upregulation of ''GATA1'', and commits myeloid cells to the granulocyte lineage and blocks their differentiation<ref name=":4" /><ref name=":5" />.

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

==Individual Region Genomic Gain / Loss / LOH==

{| class="wikitable sortable"

!Notes

|-

7

chr7:1- 159,335,973 [hg38]

chr7

|Yes

|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 (add reference).

|-

8

chr8:1-145,138,636 [hg38]

chr8

|No

|No

Common recurrent secondary finding for t(8;21) (add reference).

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Not applicable.

==Characteristic Chromosomal Patterns==

{| class="wikitable sortable"

!Notes

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Co-deletion of 1p and 18q

|No

|No

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

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A few male patients have been reported with massive hyperdiploid or tetraploid karyotypes<ref name=":1" /><ref name=":2" /><ref name=":3" /><ref>{{Cite journal|last=Kim|first=Bo Hyun|last2=Kim|first2=Hye Ryoun|last3=Lee|first3=Mi-Kyung|last4=Chi|first4=Hyunyoung|date=2013|title=Two cases of near-tetraploidy in acute leukemias of ambiguous lineage|url=https://www.ncbi.nlm.nih.gov/pubmed/24003431|journal=Annals of Laboratory Medicine|volume=33|issue=5|pages=371–374|doi=10.3343/alm.2013.33.5.371|issn=2234-3814|pmc=3756245|pmid=24003431}}</ref>. Monosomy 7 was reported in a rare case<ref>{{Cite journal|last=Shin|first=So Youn|last2=Koo|first2=Sun Hoe|last3=Kwon|first3=Kye Cheol|last4=Park|first4=Jong Woo|last5=Ko|first5=Chi Seon|last6=Jo|first6=Deog Yeon|date=2007|title=Monosomy 7 as the sole abnormality of an acute basophilic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/17213028|journal=Cancer Genetics and Cytogenetics|volume=172|issue=2|pages=168–171|doi=10.1016/j.cancergencyto.2006.09.016|issn=0165-4608|pmid=17213028}}</ref>.

==Gene Mutations (SNV / INDEL)==

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!Notes

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EGFR; Exon 20 mutations

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Not applicable.

==Genes and Main Pathways Involved==

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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome

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The molecular mechanism is not completely understood.