Test
Myeloproliferative Neoplasms (MPN)
- HAEM5:Chronic myeloid leukaemia
- HAEM5:Chronic neutrophilic leukaemia
- HAEM5:Polycythaemia vera
- HAEM5:Primary myelofibrosis
- HAEM5:Chronic eosinophilic leukaemia
- HAEM5:Myeloproliferative neoplasm, NOS
- Some new stuff
Primary Author(s)*
Put your text here
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
| 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
| 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: CDKN2A; Inactivating mutations EXAMPLE: KMT2C and ARID1A; Inactivating mutations |
EXAMPLE: MAPK signaling
EXAMPLE: Cell cycle regulation EXAMPLE: Histone modification, chromatin remodeling |
EXAMPLE: Increased cell growth and proliferation
EXAMPLE: Unregulated cell division 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)
BOOK EXAMPLE: 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, p130-149.
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.