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SCLL
MCID: CHR375
MIFTS: 28

Chromosome 8p11 Myeloproliferative Syndrome (SCLL)

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Chromosome 8p11 Myeloproliferative Syndrome

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MalaCards integrated aliases for Chromosome 8p11 Myeloproliferative Syndrome:

Name: Chromosome 8p11 Myeloproliferative Syndrome 56 29 13 6 71
Stem Cell Leukemia/lymphoma 56 58
Myeloid/lymphoid Neoplasm Associated with Fgfr1 Rearrangement 58
Myeloid and Lymphoid Neoplasms with Fgfr1 Rearrangement 71
Stem Cell Leukemia/lymphoma; Scll 56
8p11 Myeloproliferative Syndrome 58
Scll 56

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 613523
ICD10 via Orphanet 33 D47.1
Orphanet 58 ORPHA168953
UMLS 71 C2827362 C3150773
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Summaries for Chromosome 8p11 Myeloproliferative Syndrome

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OMIM : 56 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)

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). The drugs Methotrexate and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include myeloid, t cells and monocytes.

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Related Diseases for Chromosome 8p11 Myeloproliferative Syndrome

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Diseases related to Chromosome 8p11 Myeloproliferative Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 8p11 myeloproliferative syndrome 31.2 SCLL FGFR1
2 myeloproliferative neoplasm 10.8
3 leukemia, acute myeloid 10.6
4 myeloid leukemia 10.4
5 polykaryocytosis inducer 10.3
6 hematologic cancer 10.3
7 rare tumor 10.3
8 kala-azar 1 10.3
9 leishmaniasis 10.3
10 leukemia, acute lymphoblastic 10.3
11 lymphocytic leukemia 10.2
12 leukemia 10.2
13 leukemia, chronic myeloid 10.2
14 myelodysplastic syndrome 10.2
15 peripheral t-cell lymphoma 10.2
16 atypical chronic myeloid leukemia 10.2
17 chronic myelomonocytic leukemia 10.2
18 thrombocytopenia 10.2
19 myelodysplastic/myeloproliferative neoplasm 10.2
20 monocytic leukemia 10.2
21 myeloid sarcoma 10.2
22 triiodothyronine receptor auxiliary protein 10.2
23 root resorption 10.2
24 toxoplasmosis 10.2
25 lymphoma 10.1
26 acute leukemia 10.1
27 lymphoma, hodgkin, classic 9.9
28 lymphoma, non-hodgkin, familial 9.9
29 lymphoblastic lymphoma 9.9
30 hypereosinophilic syndrome 9.9
31 precursor t-cell acute lymphoblastic leukemia 9.9

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



Diseases related to Chromosome 8p11 Myeloproliferative Syndrome
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Symptoms & Phenotypes for Chromosome 8p11 Myeloproliferative Syndrome

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Clinical features from OMIM:

613523
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Drugs & Therapeutics for Chromosome 8p11 Myeloproliferative Syndrome

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Drugs for Chromosome 8p11 Myeloproliferative Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
2
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
3
leucovorin Approved Phase 2 58-05-9 6006 143
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Lenograstim Approved, Investigational Phase 2 135968-09-1
6
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Mesna Approved, Investigational Phase 2 3375-50-6 598
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 Thymoglobulin Phase 2
12 Alkylating Agents Phase 2
13 Folic Acid Antagonists Phase 2
14 Dermatologic Agents Phase 2
15 Folate Phase 2
16 Vitamin B Complex Phase 2
17 Vitamin B9 Phase 2
18 Antilymphocyte Serum Phase 2
19 Immunosuppressive Agents Phase 2
20 Antirheumatic Agents Phase 2
21 Protective Agents Phase 2
22 Adjuvants, Immunologic Phase 2
23 Antimetabolites Phase 2
24 Immunologic Factors Phase 2
25 Calcineurin Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thiotepa-Clofarabine-Busulfan With Allogeneic Stem Cell Transplant for High Risk Malignancies Completed NCT00857389 Phase 2 Thiotepa;Clofarabine;Busulfan;Thymoglobulin (ATG);G-CSF (Filgrastim);Tacrolimus;Methotrexate;Cyclophosphamide;Mesna
2 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

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Genetic Tests for Chromosome 8p11 Myeloproliferative Syndrome

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Genetic tests related to Chromosome 8p11 Myeloproliferative Syndrome:

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

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

40
Myeloid, T Cells, Monocytes
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Publications for Chromosome 8p11 Myeloproliferative Syndrome

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Articles related to Chromosome 8p11 Myeloproliferative Syndrome:

(show all 44)
# Title Authors PMID Year
1
Modeling the human 8p11-myeloproliferative syndrome in immunodeficient mice. 61 56
20554971 2010
2
The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. 61 56
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 56
15448205 2004
4
Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. 56
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. 56
9694738 1998
6
Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). 56
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. 56
9499416 1998
8
FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. 56
9425908 1998
9
About the t(8;13)(p11;q12) clinico-pathologic entity. 56
8608264 1996
10
A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. 56
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. 56
7661940 1995
12
T-cell lymphoblastic lymphoma with eosinophilia associated with subsequent myeloid malignancy. 56
1599015 1992
13
Rac1/2 activation promotes FGFR1 driven leukemogenesis in stem cell leukemia/lymphoma syndrome. 61
31221776 2020
14
The Ems Syndrome (8P11/12 Myeloproliferative Syndrome) or Human Stem Cell Leukemia/Lymphoma Syndrome-A Unique and Rare Case. 61
31979932 2020
15
Distinct signaling programs associated with progression of FGFR1 driven leukemia in a mouse model of stem cell leukemia lymphoma syndrome. 61
30439482 2019
16
DNA methyltransferase 1-mediated CpG methylation of the miR-150-5p promoter contributes to fibroblast growth factor receptor 1-driven leukemogenesis. 61
31628193 2019
17
Critical individual roles of the BCR and FGFR1 kinase domains in BCR-FGFR1-driven stem cell leukemia/lymphoma syndrome. 61
31525277 2019
18
Oncogenic fusion protein BCR-FGFR1 requires BCR-mediated oligomerization and chaperonin Hsp90 for activation. 61
31439673 2019
19
Loss of the BCR-FGFR1 GEF Domain Suppresses RHOA Activation and Enhances B-Lymphomagenesis in Mice. 61
30413411 2019
20
FGFR1 fusion kinase regulation of MYC expression drives development of stem cell leukemia/lymphoma syndrome. 61
29720732 2018
21
miR-339 Promotes Development of Stem Cell Leukemia/Lymphoma Syndrome via Downregulation of the BCL2L11 and BAX Proapoptotic Genes. 61
29735550 2018
22
8p11 Stem Cell Leukemia/Lymphoma Syndrome without Myeloproliferation: A Rare Clinical Entity. 61
29622897 2018
23
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
24
Development of ZMYM2-FGFR1 driven AML in human CD34+ cells in immunocompromised mice. 61
27005999 2016
25
[8p11 myeloproliferative syndrome]. 61
23998615 2013
26
Ponatinib suppresses the development of myeloid and lymphoid malignancies associated with FGFR1 abnormalities. 61
22781593 2013
27
Src activation plays an important key role in lymphomagenesis induced by FGFR1 fusion kinases. 61
21937681 2011
28
Constitutive Notch pathway activation in murine ZMYM2-FGFR1-induced T-cell lymphomas associated with atypical myeloproliferative disease. 61
21527531 2011
29
Biphenotypic hematologic malignancy: a case report of the 8p11 myeloproliferative syndrome in a child. 61
20562652 2010
30
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
31
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
32
A novel cytogenetic aberration found in stem cell leukemia/lymphoma syndrome. 61
17928887 2008
33
14-3-3 Integrates prosurvival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1-transformed hematopoietic cells. 61
17389761 2007
34
Oncogenes in myeloproliferative disorders. 61
17351342 2007
35
Classification of chronic myeloid disorders: from Dameshek towards a semi-molecular system. 61
16781478 2006
36
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. 61
15800673 2005
37
The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. 61
11919391 2002
38
ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain. 61
10887137 2000
39
Cloning and mapping of members of the MYM family. 61
10486218 1999
40
CD56+CD7+ stem cell leukemia/lymphoma with D2-Jdelta1 rearrangement. 61
10435360 1999
41
Electron microscopical analysis of myeloperoxidase of leukemic cells in CD7+ stem cell leukemia/lymphoma. 61
10359066 1999
42
T-stem cell leukemia/lymphoma with both myeloid lineage conversion and T-specific delta recombination. 61
9379684 1997
43
Translocation t(8;13)(p11;q11-12) in stem cell leukemia/lymphoma of T-cell and myeloid lineages. 61
7535088 1995
44
CD7+ stem cell leukemia/lymphoma. Features of a subgroup without circulating blast cells. 61
7685244 1993
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Variations for Chromosome 8p11 Myeloproliferative Syndrome

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ClinVar genetic disease variations for Chromosome 8p11 Myeloproliferative Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCR , FGFR1 t(8;22)(p11;q11)Translocation Pathogenic 691593 22:23603726-23603727
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Expression for Chromosome 8p11 Myeloproliferative Syndrome

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

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GO Terms for Chromosome 8p11 Myeloproliferative Syndrome

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Sources for Chromosome 8p11 Myeloproliferative Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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