Compendium of Cancer Genome Aberrations

HAEM5:Acute myeloid leukaemia with NUP98 rearrangement: Difference between revisions

(View all pending changes)
[pending revision][pending revision]
← Older editNewer edit →
VisualWikitext
Content added
No edit summary
Line 37: Line 37:
|}
|}


== WHO Essential and Desirable Genetic Diagnostic Criteria. ==
==WHO Essential and Desirable Genetic Diagnostic Criteria.==
{| class="wikitable"
{| class="wikitable"
|WHO Essential Criteria  (Genetics)*
|WHO Essential Criteria  (Genetics)*
Line 119: Line 119:
|'''Typical Chromosomal Alteration(s)'''
|'''Typical Chromosomal Alteration(s)'''
|'''Prevalence -Common >20%, Recurrent  5-20% or Rare <5% (Disease)'''
|'''Prevalence -Common >20%, Recurrent  5-20% or Rare <5% (Disease)'''
|'''Diagnostic,  Prognostic, and Therapeutic Significance - D, P, T'''  
|'''Diagnostic,  Prognostic, and Therapeutic Significance - D, P, T'''
|'''Established  Clinical Significance Per Guidelines - Yes or No (Source)'''
|'''Established  Clinical Significance Per Guidelines - Yes or No (Source)'''
|'''Clinical  Relevance Details/Other Notes'''
|'''Clinical  Relevance Details/Other Notes'''
Line 146: Line 146:
|''Commonly associated with erythroid and megakaryocytic phenotypes  in pediatric AML (acute erythroid leukemia and acute megakaryocytic  leukemia).''<ref name=":1" />  
|''Commonly associated with erythroid and megakaryocytic phenotypes  in pediatric AML (acute erythroid leukemia and acute megakaryocytic  leukemia).''<ref name=":1" />  


''Usually associate with unfavorable outcomes''  
''Usually associate with unfavorable outcomes''
|-
|-
|''NUP98''
|''NUP98''
Line 183: Line 183:
<br />
<br />
{| class="wikitable"
{| class="wikitable"
|'''Chromosome Number'''  
|'''Chromosome Number'''
|'''Gain/Loss/Amp/LOH'''
|'''Gain/Loss/Amp/LOH'''
|'''Minimal Region Cytoband and/or Genomic  Coordinates [Genome Build; Size]'''
|'''Minimal Region Cytoband and/or Genomic  Coordinates [Genome Build; Size]'''
|'''Relevant Gene(s)'''
|'''Relevant Gene(s)'''
|'''Diagnostic,  Prognostic, and Therapeutic Significance - D, P, T'''  
|'''Diagnostic,  Prognostic, and Therapeutic Significance - D, P, T'''
|'''Established  Clinical Significance Per Guidelines - Yes or No (Source)'''
|'''Established  Clinical Significance Per Guidelines - Yes or No (Source)'''
|'''Clinical  Relevance Details/Other Notes'''
|'''Clinical  Relevance Details/Other Notes'''
Line 195: Line 195:
|Trisomy 8
|Trisomy 8
|Unknown
|Unknown
|NA  
|NA
|No
|No
|
|
Line 279: Line 279:
|'''Tumor Suppressor Gene (TSG)/Oncogene/Other'''
|'''Tumor Suppressor Gene (TSG)/Oncogene/Other'''
|'''Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
|'''Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
|'''Diagnostic, Prognostic, and Therapeutic  Significance - D, P, T'''  
|'''Diagnostic, Prognostic, and Therapeutic  Significance - D, P, T'''
|'''Established Clinical Significance Per  Guidelines - Yes or No (Source)'''
|'''Established Clinical Significance Per  Guidelines - Yes or No (Source)'''
|'''Clinical Relevance Details/Other Notes'''
|'''Clinical Relevance Details/Other Notes'''
Line 287: Line 287:
|
|
|Recurrent
|Recurrent
|Poor prognosis
|Poor prognosis
|
|
|Seen in 67  to 91% of cases with NUP98::NSD1
|Seen in 67  to 91% of cases with NUP98::NSD1
Line 365: Line 365:
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


·        FISH using NUP98 break-apart probes
Rearrangements involving NUP98 are often cryptic on conventional karyotype, owing to terminal location of NUP98 on chromosome 11p15.4. Most patients have a normal karyotype. Diagnosis is established using the following tests:


·        RT-PCR for fusion proteins like NUP98::NSD1
* FISH using NUP98 break-apart probes
* RT-PCR for fusion proteins like NUP98::NSD1
* RNA sequencing
* Optical Genome Mapping (OGM)


·        RNA sequencing
<br />
 
[[File:NUP98 NSD1.png|none|thumb|617x617px|Karyotype image of NUP98 rearranged acute myeloid leukemia. Due to the cryptic nature of NUP98 rearrangement, karyotype is usually normal. ]]
·        Optical Genome Mapping (OGM)
[[File:T(5;11).jpg|none|thumb|584x584px|Optical genome mapping. Figure A showing circus plot with t(5;11). Figure B showing exact breakpoints of the translocation leading to NUP98::NSD1 fusion. Figure C showing WT1 deletion which is a common secondary event in NUP98 rearranged AML.]]
<br />


==Familial Forms==
==Familial Forms==
Line 379: Line 383:
==Additional Information==
==Additional Information==


Rearrangements involving NUP98 are often cryptic on conventional karyotype, owing to terminal location of NUP98 on chromosome 11p15.4. Most patients have a normal karyotype.
<br />


==Links==
==Links==
Retrieved from "https://test.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_NUP98_rearrangement"