t(13;17)(q12.2;q11.2) AND Atypical chronic myeloid leukemia

Clinical significance:Likely pathogenic (Last evaluated: Sep 25, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000721113.1

Allele description [Variation Report for t(13;17)(q12.2;q11.2)]

t(13;17)(q12.2;q11.2)

Genes:
FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
MYO18A:myosin XVIIIA [Gene - OMIM - HGNC]
Variant type:
Translocation
Cytogenetic location:
13q12.2
Genomic location:
Preferred name:
t(13;17)(q12.2;q11.2)

Condition(s)

Name:
Atypical chronic myeloid leukemia (ACML)
Identifiers:
MONDO: MONDO:0020312; MedGen: C1292772

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000845774Knight Cancer Institute, Oregon Health and Science Universityno assertion criteria providedLikely pathogenic
(Sep 25, 2018)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

A novel t(3;13)(q13;q12) translocation fusing FLT3 with GOLGB1: toward myeloid/lymphoid neoplasms with eosinophilia and rearrangement of FLT3?

Troadec E, Dobbelstein S, Bertrand P, Faumont N, Trimoreau F, Touati M, Chauzeix J, Petit B, Bordessoule D, Feuillard J, Bastard C, Gachard N.

Leukemia. 2017 Feb;31(2):514-517. doi: 10.1038/leu.2016.304. Epub 2016 Oct 31. No abstract available.

PubMed [citation]
PMID:
27795560
PMCID:
PMC5292680

A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy.

Grand FH, Iqbal S, Zhang L, Russell NH, Chase A, Cross NC.

Exp Hematol. 2007 Nov;35(11):1723-7. Epub 2007 Aug 30.

PubMed [citation]
PMID:
17764812
See all PubMed Citations (6)

Details of each submission

From Knight Cancer Institute, Oregon Health and Science University, SCV000845774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

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: Oct 7, 2021

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