SCLL
MCID: CHR375
MIFTS: 28

Chromosome 8p11 Myeloproliferative Syndrome (SCLL)

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare diseases

Aliases & Classifications for Chromosome 8p11 Myeloproliferative Syndrome

MalaCards integrated aliases for Chromosome 8p11 Myeloproliferative Syndrome:

Name: Chromosome 8p11 Myeloproliferative Syndrome 57 29 13 6 71
Stem Cell Leukemia/lymphoma 57 58
Myeloid/lymphoid Neoplasm Associated with Fgfr1 Rearrangement 58
Myeloid and Lymphoid Neoplasms with Fgfr1 Rearrangement 71
Stem Cell Leukemia/lymphoma; Scll 57
8p11 Myeloproliferative Syndrome 58
Scll 57

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 613523
ICD10 via Orphanet 33 D47.1
Orphanet 58 ORPHA168953
UMLS 71 C2827362 C3150773

Summaries for Chromosome 8p11 Myeloproliferative Syndrome

OMIM® : 57 The 8p11 myeloproliferative syndrome is a rare aggressive condition characterized in its typical form by the occurrence, either simultaneously or sequentially, of a BCR/ABL-negative myeloproliferative disorder and a lymphoma, usually a precursor T-lymphoblastic lymphoma. The disease most often terminates in acute myeloid leukemia (Goradia et al., 2008). (613523) (Updated 05-Mar-2021)

MalaCards based summary : Chromosome 8p11 Myeloproliferative Syndrome, also known as stem cell leukemia/lymphoma, is related to 8p11 myeloproliferative syndrome and myeloproliferative neoplasm. An important gene associated with Chromosome 8p11 Myeloproliferative Syndrome is SCLL (Chromosome 8p11 Myeloproliferative Syndrome), and among its related pathways/superpathways are Signaling by FGFR2 in disease and Tyrosine Kinases / Adaptors. Affiliated tissues include myeloid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Chromosome 8p11 Myeloproliferative Syndrome

Graphical network of the top 20 diseases related to Chromosome 8p11 Myeloproliferative Syndrome:



Diseases related to Chromosome 8p11 Myeloproliferative Syndrome

Symptoms & Phenotypes for Chromosome 8p11 Myeloproliferative Syndrome

Clinical features from OMIM®:

613523 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Chromosome 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.89 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.89 RANBP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.89 RANBP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.89 BCR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.89 FGFR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.89 BCR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.89 FGFR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.89 RANBP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.89 FGFR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.89 RANBP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.89 BCR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.89 FGFR1 RANBP2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.89 BCR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.89 FGFR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.89 FGFR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.89 FGFR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.89 RANBP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.89 FGFR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.89 BCR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.89 RANBP2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.89 BCR

Drugs & Therapeutics for Chromosome 8p11 Myeloproliferative Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Study to Investigate the Maximum Tolerated Dose of RO5045337 in Patients With Acute Myelogenous Leukemia (AML), Acute Lymphocytic Leukemia (ALL), Chronic Myelogenous Leukemia (CML) in Blast Phase, or Refractory Chronic Lymphocytic Leukemia/Small Cell Lymphocytic Lymphoma (CLL / SCLL) Completed NCT00623870 Phase 1 RO5045337

Search NIH Clinical Center for Chromosome 8p11 Myeloproliferative Syndrome

Genetic Tests for Chromosome 8p11 Myeloproliferative Syndrome

Genetic tests related to Chromosome 8p11 Myeloproliferative Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 8p11 Myeloproliferative Syndrome 29

Anatomical Context for Chromosome 8p11 Myeloproliferative Syndrome

MalaCards organs/tissues related to Chromosome 8p11 Myeloproliferative Syndrome:

40
Myeloid

Publications for Chromosome 8p11 Myeloproliferative Syndrome

Articles related to Chromosome 8p11 Myeloproliferative Syndrome:

(show all 45)
# Title Authors PMID Year
1
Modeling the human 8p11-myeloproliferative syndrome in immunodeficient mice. 57 61
20554971 2010
2
The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. 57 61
18787627 2008
3
PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder. 61 57
15448205 2004
4
Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. 57
9716603 1998
5
The t(8;13) atypical myeloproliferative disorder: further analysis of the ZNF198 gene and lack of evidence for multiple genes disrupted on chromosome 13. 57
9694738 1998
6
Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). 57
9576949 1998
7
The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. 57
9499416 1998
8
FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. 57
9425908 1998
9
About the t(8;13)(p11;q12) clinico-pathologic entity. 57
8608264 1996
10
A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. 57
7564500 1995
11
A syndrome of lymphoblastic lymphoma, eosinophilia, and myeloid hyperplasia/malignancy associated with t(8;13)(p11;q11): description of a distinctive clinicopathologic entity. 57
7661940 1995
12
T-cell lymphoblastic lymphoma with eosinophilia associated with subsequent myeloid malignancy. 57
1599015 1992
13
Downregulation of PUMA underlies resistance to FGFR1 inhibitors in the stem cell leukemia/lymphoma syndrome. 61
33082322 2020
14
Oncogenic fusion protein BCR-FGFR1 requires the breakpoint cluster region-mediated oligomerization and chaperonin Hsp90 for activation. 61
31439673 2020
15
Critical individual roles of the BCR and FGFR1 kinase domains in BCR-FGFR1-driven stem cell leukemia/lymphoma syndrome. 61
31525277 2020
16
Rac1/2 activation promotes FGFR1 driven leukemogenesis in stem cell leukemia/lymphoma syndrome. 61
31221776 2020
17
The Ems Syndrome (8P11/12 Myeloproliferative Syndrome) or Human Stem Cell Leukemia/Lymphoma Syndrome-A Unique and Rare Case. 61
31979932 2020
18
Distinct signaling programs associated with progression of FGFR1 driven leukemia in a mouse model of stem cell leukemia lymphoma syndrome. 61
30439482 2019
19
DNA methyltransferase 1-mediated CpG methylation of the miR-150-5p promoter contributes to fibroblast growth factor receptor 1-driven leukemogenesis. 61
31628193 2019
20
Loss of the BCR-FGFR1 GEF Domain Suppresses RHOA Activation and Enhances B-Lymphomagenesis in Mice. 61
30413411 2019
21
FGFR1 fusion kinase regulation of MYC expression drives development of stem cell leukemia/lymphoma syndrome. 61
29720732 2018
22
miR-339 Promotes Development of Stem Cell Leukemia/Lymphoma Syndrome via Downregulation of the BCL2L11 and BAX Proapoptotic Genes. 61
29735550 2018
23
8p11 Stem Cell Leukemia/Lymphoma Syndrome without Myeloproliferation: A Rare Clinical Entity. 61
29622897 2018
24
Mutation in the FGFR1 tyrosine kinase domain or inactivation of PTEN is associated with acquired resistance to FGFR inhibitors in FGFR1-driven leukemia/lymphomas. 61
28646488 2017
25
Development of ZMYM2-FGFR1 driven AML in human CD34+ cells in immunocompromised mice. 61
27005999 2016
26
[8p11 myeloproliferative syndrome]. 61
23998615 2013
27
Ponatinib suppresses the development of myeloid and lymphoid malignancies associated with FGFR1 abnormalities. 61
22781593 2013
28
Src activation plays an important key role in lymphomagenesis induced by FGFR1 fusion kinases. 61
21937681 2011
29
Constitutive Notch pathway activation in murine ZMYM2-FGFR1-induced T-cell lymphomas associated with atypical myeloproliferative disease. 61
21527531 2011
30
Biphenotypic hematologic malignancy: a case report of the 8p11 myeloproliferative syndrome in a child. 61
20562652 2010
31
Chromosome 8p11.2 translocations: prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution. 61
20143402 2010
32
Genetic fingerprinting of the development and progression of T-cell lymphoma in a murine model of atypical myeloproliferative disorder initiated by the ZNF198-fibroblast growth factor receptor-1 chimeric tyrosine kinase. 61
19506298 2009
33
A novel cytogenetic aberration found in stem cell leukemia/lymphoma syndrome. 61
17928887 2008
34
14-3-3 Integrates prosurvival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1-transformed hematopoietic cells. 61
17389761 2007
35
Oncogenes in myeloproliferative disorders. 61
17351342 2007
36
Classification of chronic myeloid disorders: from Dameshek towards a semi-molecular system. 61
16781478 2006
37
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. 61
15800673 2005
38
The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. 61
11919391 2002
39
ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain. 61
10887137 2000
40
Cloning and mapping of members of the MYM family. 61
10486218 1999
41
CD56+CD7+ stem cell leukemia/lymphoma with D2-Jdelta1 rearrangement. 61
10435360 1999
42
Electron microscopical analysis of myeloperoxidase of leukemic cells in CD7+ stem cell leukemia/lymphoma. 61
10359066 1999
43
T-stem cell leukemia/lymphoma with both myeloid lineage conversion and T-specific delta recombination. 61
9379684 1997
44
Translocation t(8;13)(p11;q11-12) in stem cell leukemia/lymphoma of T-cell and myeloid lineages. 61
7535088 1995
45
CD7+ stem cell leukemia/lymphoma. Features of a subgroup without circulating blast cells. 61
7685244 1993

Variations for Chromosome 8p11 Myeloproliferative Syndrome

ClinVar genetic disease variations for Chromosome 8p11 Myeloproliferative Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCR t(8;22)(p11;q11) Translocation Pathogenic 691593 8:38275890-38275891

Expression for Chromosome 8p11 Myeloproliferative Syndrome

Search GEO for disease gene expression data for Chromosome 8p11 Myeloproliferative Syndrome.

Pathways for Chromosome 8p11 Myeloproliferative Syndrome

Pathways related to Chromosome 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 FGFR1 BCR
2 11.33 FGFR1 BCR
3
Show member pathways
10.91 FGFR1 BCR
4 10.13 FGFR1 BCR

GO Terms for Chromosome 8p11 Myeloproliferative Syndrome

Biological processes related to Chromosome 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 8.62 FGFR1 BCR

Molecular functions related to Chromosome 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.62 RANBP2 BCR

Sources for Chromosome 8p11 Myeloproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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