t(8;22)(p11;q11) AND Myeloid neoplasm associated with FGFR1 rearrangement

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 11, 2019
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:: RCV000852347.1

Allele description [Variation Report for t(8;22)(p11;q11)]

t(8;22)(p11;q11)

Genes:

BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]

Variant type:

Translocation

Cytogenetic location:

22q11.23

Genomic location:

Preferred name:

t(8;22)(p11;q11)

Observations:

Condition(s)

Name:: Myeloid neoplasm associated with FGFR1 rearrangement
Synonyms:: STEM CELL LEUKEMIA/LYMPHOMA; Chromosome 8p11 myeloproliferative syndrome
Identifiers:: MONDO: MONDO:0013296; MedGen: C3150773; OMIM: 613523

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000994995	Knight Cancer Institute, Oregon Health and Science University	no assertion criteria provided	Pathogenic (Aug 11, 2019)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20226962, 28881484

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000994995

Knight Cancer Institute, Oregon Health and Science University

no assertion criteria provided

Pathogenic
(Aug 11, 2019)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	2	not provided	not provided	2	not provided	clinical testing

Citations

PubMed

8p11 myeloproliferative syndrome: a review.

Jackson CC, Medeiros LJ, Miranda RN.

Hum Pathol. 2010 Apr;41(4):461-76. doi: 10.1016/j.humpath.2009.11.003. Review.

PubMed [citation]

PMID:: 20226962

Primary cells in BCR/FGFR1-positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib.

Landberg N, Dreimane A, Rissler M, Billström R, Ågerstam H.

Eur J Haematol. 2017 Nov;99(5):442-448. doi: 10.1111/ejh.12957. Epub 2017 Oct 4.

PubMed [citation]

PMID:: 28881484

Details of each submission

From Knight Cancer Institute, Oregon Health and Science University, SCV000994995.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)
2	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Primary patient samples are sensitive to kinase inhibitor ponatinib

Primary patient samples are resistant to kinase inhibitors ponatinib and dovitinnib

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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Relating variation to medicine