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t(12;13)(p13.2;q12.2) AND Chronic myelomonocytic leukemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 25, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000721114.1

Allele description [Variation Report for t(12;13)(p13.2;q12.2)]

t(12;13)(p13.2;q12.2)

Genes:
ETV6:ETS variant transcription factor 6 [Gene - OMIM - HGNC]
FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
Variant type:
Translocation
Cytogenetic location:
12p13.2
Genomic location:
Preferred name:
t(12;13)(p13.2;q12.2)

Condition(s)

Name:
Chronic myelomonocytic leukemia (CMML)
Identifiers:
MONDO: MONDO:0020311; MedGen: C0023480; Human Phenotype Ontology: HP:0012325

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000845775Knight Cancer Institute, Oregon Health and Science University
no assertion criteria provided
Likely pathogenic
(Sep 25, 2018) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The juxtamembrane domain in ETV6/FLT3 is critical for PIM-1 up-regulation and cell proliferation.

Vu HA, Xinh PT, Kano Y, Tokunaga K, Sato Y.

Biochem Biophys Res Commun. 2009 Jun 5;383(3):308-13. doi: 10.1016/j.bbrc.2009.03.157. Epub 2009 Apr 5.

PubMed [citation]
PMID:
19345670

Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3.

Walz C, Erben P, Ritter M, Bloor A, Metzgeroth G, Telford N, Haferlach C, Haferlach T, Gesk S, Score J, Hofmann WK, Hochhaus A, Cross NC, Reiter A.

Blood. 2011 Aug 25;118(8):2239-42. doi: 10.1182/blood-2011-03-343426. Epub 2011 Jun 24.

PubMed [citation]
PMID:
21705501
See all PubMed Citations (5)

Details of each submission

From Knight Cancer Institute, Oregon Health and Science University, SCV000845775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Primary patient samples are sensitive to kinase inhibitors (quizartinib and sorafenib)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022