Difference between revisions of "CNS5:Diffuse midline glioma, H3 K27-altered"

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m (Jennelleh moved page Diffuse Midline Glioma, H3 K27-Altered to CNS5:Diffuse midline glioma, H3 K27-altered without leaving a redirect: Move to CNS5)
 
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==Primary Author(s)*==
 
==Primary Author(s)*==
  
−
Put your text here (Example: Jane Smith, PhD, Institute of Genomics)
+
Laveniya Satgunaseelan, FRCPA, Royal Prince Alfred Hospital
 +
 
 +
Linda Cooley, MD, MBA, Children's Mercy Hospital
  
 
__TOC__
 
__TOC__
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==Clinical Features==
 
==Clinical Features==
  
−
Put your text here
+
Put your text here and fill in the table
 +
{| class="wikitable"
 +
|'''Signs and Symptoms'''
 +
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
 +
 
 +
EXAMPLE B-symptoms (weight loss, fever, night sweats)
 +
 
 +
EXAMPLE Fatigue
 +
 
 +
EXAMPLE Lymphadenopathy (uncommon)
 +
|-
 +
|'''Laboratory Findings'''
 +
|EXAMPLE Cytopenias
 +
 
 +
EXAMPLE Lymphocytosis (low level)
 +
|}
  
 
==Sites of Involvement==
 
==Sites of Involvement==
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==Immunophenotype==
 
==Immunophenotype==
  
−
Put your text here and/or fill in the table
+
Put your text here and fill in the table
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
  
−
Put your text here and/or fill in the table
+
Put your text here and fill in the table
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
 
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
 +
!Diagnostic Significance (Yes, No or Unknown)
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 
|-
 
|-
−
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
+
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
−
|-
+
EXAMPLE 30% (add reference)
−
|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
+
|Yes
 +
|No
 +
|Yes
 +
|EXAMPLE
 +
 
 +
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).
 
|}
 
|}
 
 
−
==Characteristic Chromosomal Aberrations / Patterns==
+
==Individual Region Genomic Gain/Loss/LOH==
−
 
 
−
Put your text here
 
−
 
 
−
==Genomic Gain/Loss/LOH==
 
−
 
 
−
Put your text here and/or fill in the table
 
  
 +
Put your text here and fill in the table
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
 
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
 
|-
 
|-
−
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
+
|10||Loss||Monosomy 10 or 10q loss
 +
|-
 +
|Xq21.1||Loss||ATRX loss
 +
|-
 +
|17p13.1||overexpression||TP53
 +
|-
 +
|4q12||gain/amplification||PDGFRA (1,8) - ~50% of DIPG
 +
|-
 +
|8q24.2||gain/amplification||MYC/PVT1 (1,8) ~35%
 +
|-
 +
|12q14.1/7q21.2/11q13.3||gain/amplification||CDK4/6, CCND1-3 (1) ~20%
 +
|-
 +
|2p25.1||gain/amplification||ID2 (1) ~10%
 +
|-
 +
|7q31.2||gain/amplification||MET (1) ~7%
 +
|-
 +
| ||losses||5q, 6q, 17p, 21q common (8)
 +
|-
 +
| ||gains||1q, 2 (1)
 +
|}
 +
{| class="wikitable sortable"
 +
|-
 +
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
 +
!Diagnostic Significance (Yes, No or Unknown)
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 +
|-
 +
|EXAMPLE
 +
 
 +
7
 +
|EXAMPLE Loss
 +
|EXAMPLE
 +
 
 +
chr7:1- 159,335,973 [hg38]
 +
|EXAMPLE
 +
 
 +
chr7
 +
|Yes
 +
|Yes
 +
|No
 +
|EXAMPLE
 +
 
 +
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).
 
|-
 
|-
−
|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
+
|EXAMPLE
−
|}
+
 
−
+
8
−
==Gene Mutations (SNV/INDEL)==
+
|EXAMPLE Gain
 +
|EXAMPLE
 +
 
 +
chr8:1-145,138,636 [hg38]
 +
|EXAMPLE
 +
 
 +
chr8
 +
|No
 +
|No
 +
|No
 +
|EXAMPLE
 +
 
 +
Common recurrent secondary finding for t(8;21) (add reference).
 +
|}
 +
==Characteristic Chromosomal Patterns==
  
−
Put your text here and/or fill in the tables
+
Put your text here
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
−
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
+
!Chromosomal Pattern
 +
!Diagnostic Significance (Yes, No or Unknown)
 +
!Prognostic Significance (Yes, No or Unknown)
 +
!Therapeutic Significance (Yes, No or Unknown)
 +
!Notes
 
|-
 
|-
−
|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
+
|EXAMPLE
−
|}
+
 
−
+
Co-deletion of 1p and 18q
−
===Other Mutations===
+
|Yes
 +
|No
 +
|No
 +
|EXAMPLE:
 +
 
 +
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 +
|}
 +
==Gene Mutations (SNV/INDEL)==
 +
 
 +
Put your text here and fill in the table
 +
 
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
−
!Type!!Gene/Region/Other
+
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
−
|-
+
!'''Diagnostic Significance (Yes, No or Unknown)'''
−
|Concomitant Mutations||EXAMPLE IDH1 R123H
+
!Prognostic Significance (Yes, No or Unknown)
−
|-
+
!Therapeutic Significance (Yes, No or Unknown)
−
|Secondary Mutations||EXAMPLE Trisomy 7
+
!Notes
 
|-
 
|-
−
|Mutually Exclusive||EXAMPLE EGFR Amplification
+
|EXAMPLE: TP53; Variable LOF mutations
−
|}
 
  
−
==Epigenomics (Methylation)==
+
EXAMPLE:
  
−
Put your text here
+
EGFR; Exon 20 mutations
  
−
==Genes and Main Pathways Involved==
+
EXAMPLE: BRAF; Activating mutations
 +
|EXAMPLE: TSG
 +
|EXAMPLE: 20% (COSMIC)
  
−
Put your text here
+
EXAMPLE: 30% (add Reference)
 +
|EXAMPLE: IDH1 R123H
 +
|EXAMPLE: EGFR amplification
 +
|
 +
|
 +
|
 +
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
 +
<br />
 +
|}
 +
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
  
−
==Diagnostic Testing Methods==
+
==Epigenomic Alterations==
  
 
Put your text here
 
Put your text here
  
−
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
+
==Genes and Main Pathways Involved==
  
−
Diagnosis: Put your text here
+
Put your text here and fill in the table
 +
{| class="wikitable sortable"
 +
|-
 +
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 +
|-
 +
|EXAMPLE: BRAF and MAP2K1; Activating mutations
 +
|EXAMPLE: MAPK signaling
 +
|EXAMPLE: Increased cell growth and proliferation
 +
|-
 +
|EXAMPLE: CDKN2A; Inactivating mutations
 +
|EXAMPLE: Cell cycle regulation
 +
|EXAMPLE: Unregulated cell division
 +
|-
 +
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
 +
|EXAMPLE:  Histone modification, chromatin remodeling
 +
|EXAMPLE:  Abnormal gene expression program
 +
|}
 +
==Genetic Diagnostic Testing Methods==
  
−
Prognosis: Put your text here
+
Put your text here
−
 
 
−
Therapeutic: Put your text here
 
  
 
==Familial Forms==
 
==Familial Forms==
Line 132: Line 249:
 
Put your text here
 
Put your text here
  
−
==Other Information==
+
==Additional Information==
  
 
Put your text here
 
Put your text here
Line 138: Line 255:
 
==Links==
 
==Links==
  
−
Put your links here (use "Link" icon at top of page)
+
Put your text placeholder here (use "Link" icon at top of page)
  
 
==References==
 
==References==
 +
<references />
 
(use "Cite" icon at top of page)
 
(use "Cite" icon at top of page)
−
<references />
 
 
===EXAMPLE Book===
 
===EXAMPLE Book===
  

Latest revision as of 13:51, 25 February 2024

Primary Author(s)*

Laveniya Satgunaseelan, FRCPA, Royal Prince Alfred Hospital

Linda Cooley, MD, MBA, Children's Mercy Hospital

Cancer Category/Type

Put your text here

Cancer Sub-Classification / Subtype

Put your text here

Definition / Description of Disease

Put your text here

Synonyms / Terminology

Put your text here

Epidemiology / Prevalence

Put your text here

Clinical Features

Put your text here and fill in the table

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)

Sites of Involvement

Put your text here

Morphologic Features

Put your text here

Immunophenotype

Put your text here and fill in the table

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 fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

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).

Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table

Chromosome Number Gain/Loss/Amp/LOH Region
10 Loss Monosomy 10 or 10q loss
Xq21.1 Loss ATRX loss
17p13.1 overexpression TP53
4q12 gain/amplification PDGFRA (1,8) - ~50% of DIPG
8q24.2 gain/amplification MYC/PVT1 (1,8) ~35%
12q14.1/7q21.2/11q13.3 gain/amplification CDK4/6, CCND1-3 (1) ~20%
2p25.1 gain/amplification ID2 (1) ~10%
7q31.2 gain/amplification MET (1) ~7%
losses 5q, 6q, 17p, 21q common (8)
gains 1q, 2 (1)
Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

7

EXAMPLE Loss EXAMPLE

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

EXAMPLE

chr7

Yes Yes No EXAMPLE

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).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

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

EXAMPLE

chr8

No No No EXAMPLE

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

Characteristic Chromosomal Patterns

Put your text here

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

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

Gene Mutations (SNV/INDEL)

Put your text here and fill in the table

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference).


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

Put your text here

Genes and Main Pathways Involved

Put your text here and fill in the table

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE: KMT2C and ARID1A; Inactivating mutations EXAMPLE: Histone modification, chromatin remodeling EXAMPLE: Abnormal gene expression program

Genetic Diagnostic Testing Methods

Put your text here

Familial Forms

Put your text here

Additional Information

Put your text here

Links

Put your text placeholder here (use "Link" icon at top of page)

References

(use "Cite" icon at top of page)

EXAMPLE Book

  1. 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. IARC Press: Lyon, France, p129-171.

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.

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