Hematopoietic and Lymphatic System Neoplasm

Author reported a 31-year-old male patient diagnosed with B-ALL. RT-PCR and sequence analyses detected transcription of a single RCSD1-ABL1 fusion gene variant, which had breakpoints in exon 3 of RCSD… (full text at CIViC)

PMID 21863287 · Inokuchi et al., 2011 · Open in CIViC

Authors reported a 61-year old female diagnosed with B-ALL in August 2012. The RCSD1-ABL1 t(1;9)(q22;q34) fusion between exon 3 of RCSD1 and exon 4 of ABL1 was identified by RT-PCR. The patient was en… (full text at CIViC)

PMID 28057740 · Frech et al., 2017 · Open in CIViC

Authors reported a 15-year-old female patient with B-ALL diagnosed in June 2014. Conventional cytogenetics and FISH identified t(1;9)(q23;q34) and RCSD1ABL1 fusion. Microarray identified an approximat… (full text at CIViC)

PMID 26600955 · Kamran et al., 2015 · Open in CIViC

The ABL1-RCSD1 fusion was identified in a 6 yo boy with Ph-like B-ALL and hyperleukocytosis. Following standard induction therapy the patient had an MRD of 16.4% in bone marrow, indicating a poor resp… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

The RCSD1-ABL1 fusion was identified in a 6 yo boy with Ph-like B-ALL (expression signature verified by low density gene expression array) and hyperleukocytosis. Following standard induction therapy t… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

This case report describes a 15 year old patient with relapsed B-ALL positive for the RCSD1-ABL1 fusion, who was successfully treated with chemotherapy with addition of imatinib; the patient remained … (full text at CIViC)

PMID 27125982 · Perwein et al., 2016 · Open in CIViC

Authors reported a 26 year-old female patient with B-ALL and RCSD1-ABL1 fusion identified by FISH and PCR. Sequencing showed that RCSD1 exon 3 was fused to ABL1 exon 4. This patient was treated with c… (full text at CIViC)

PMID 25768406 · Collette et al., 2015 · Open in CIViC

The authors performed an ex vivo functional evaluation of the drug response profiling (DRP) of the leukemic blasts from a B-ALL patient with RCSD1-ABL1 fusion with a specific focus on TKIs. Resistance… (full text at CIViC)

PMID 25768406 · Collette et al., 2015 · Open in CIViC

Authors reported a 15-year-old female diagnosed with B-ALL with the t(1;9)(q24;q34.1). RNAseq data were consistent with a fusion between the exon 3 of RCSD1 and exon 4 of ABL1, resulting in the format… (full text at CIViC)

PMID 27855558 · Yap et al., 2017 · Open in CIViC

Type evidence here

PMID 27125982 · Perwein et al., 2016 · Open in CIViC

In a cohort Dutch/German patients (age <15 years) with B cell precursor acute lymphoblastic leukemia, 14 tyrosine kinase fusions were identified among 77 BCR-ABL1-like cases, and zero were identified … (full text at CIViC)

PMID 27894077 · Boer et al., 2017 · Open in CIViC

Amplification of REL is shown to be associated with germinal-center B-cell–like diffuse large-B-cell lymphomas.

PMID 12075054 · Rosenwald et al., 2002 · Open in CIViC

In an in vitro kinase study, the recombinant RET V804M mutant kinase demonstrated resistance to dasatinib treatment at concentrations of 1μM and 10μM (activity %: 99 and 87) when compared to wild type… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

This study included 1389 cases of high-risk pediatric B-ALL, out of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on the… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

Described in multiple genome-wide studies of BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

One of the first genes found to be affected by aberrant somatic hypermutation in DLBCL

PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC

Described in multiple genome-wide studies of BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

A pedigree of 3 generations and 8 individuals with familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) was assessed for mutation in RUNX1 exons 3, 4, 5 and 6. Mutation was fo… (full text at CIViC)

PMID 12060124 · Walker et al., 2002 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (B) of 4 generations with 15 individuals was evaluated by sequencing as more than 1 first degree relative had M… (full text at CIViC)

PMID 18723428 · Owen et al., 2008 · Open in CIViC

In a pedigree with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) spanning three generations, five members of generation II were sequenced at exons 3, 4 and 5 of th… (full text at CIViC)

PMID 11675361 · Buijs et al., 2001 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (C) of 3 generations with 7 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC)

PMID 18723428 · Owen et al., 2008 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (A) of 2 generations with 6 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC)

PMID 18723428 · Owen et al., 2008 · Open in CIViC

A pedigree of 48 individuals with multiple instances of bleeding and platelet disorders and 8 cases of leukemia showed an A>G substitution in RUNX1 exon 3 which segregated with Familial Platelet Disor… (full text at CIViC)

PMID 11830488 · Michaud et al., 2002 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (D) of 2 generations with 7 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC)

PMID 18723428 · Owen et al., 2008 · Open in CIViC

In 878 non-APL patients with AML, those who had mutations in RUNX1 (N=53) had higher rates of refractory disease than those without (30% versus 19%; P = 0.047).

PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC

In 878 non-APL patients with AML (18-60 years), those who had mutations in RUNX1 (N=53) had shorter event-free survival (8% vs 30%, P<0.0001) and relapse-free survival (26% vs 44%, P=0.022) relative t… (full text at CIViC)

PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC

A pedigree (Pedigree number 2) with familial platelet disorder and acute myeloid leukemia (FPD/AML) was studied and a one-base deletion was found in RUNX1 splice donor site. This resulted in use of a … (full text at CIViC)

PMID 11830488 · Michaud et al., 2002 · Open in CIViC

A familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) pedigree (E) of 2 generations with 5 individuals was evaluated by sequencing as more than 1 first degree relative had MD… (full text at CIViC)

PMID 18723428 · Owen et al., 2008 · Open in CIViC

In the current update of The WHO classification for myeloid malignancies, AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1, defines a distinct subgroup of AML with recurrent genetic abnormalities. RUNX1-RUN… (full text at CIViC)

PMID 27895058 · Döhner et al., 2017 · Open in CIViC

This study evaluated the independent prognostic significance of pretreatment cytogenetics based on the large Medical Research Council (MRC) AML 10 trial which enrolled a total of 1,966 patients (364 c… (full text at CIViC)

PMID 9746770 · Grimwade et al., 1998 · Open in CIViC

A 2 year old male presented with easy bruising and bleeding. At 6 years old he was diagnosed with AML. The patients mother showed mile thrombocytopenia. Sequencing of RUNX1 exons 3-6 revealed an 8 bp … (full text at CIViC)

PMID 18478040 · Béri-Dexheimer et al., 2008 · Open in CIViC

A pedigree (Pedigree number 3) with 24 members with multiple instances of bleeding disorder and three cases of familial leukemia showed a C>A substitution in exon 7B of the transcription factor RUNX1.… (full text at CIViC)

PMID 11830488 · Michaud et al., 2002 · Open in CIViC

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including S1PR1.

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Five of the 11 somatic mutations were non–RAS pathway mutations, involving SETBP1 (3 p.Asp868Asn alterations), JAK3 (1 p.Arg657Gln alteration) and SH3BP1 (1 p.Ser277Leu alteration), which had not been… (full text at CIViC)

PMID 23832011 · Sakaguchi et al., 2013 · Open in CIViC

Atypical Chronic Myeloid Leukemia has the same symptoms as CML, but it lacks the BCR-ABL1 fusion. Targeted sequencing of 70 aCML patients identified SETBP1 mutations between codons 858 and 871 in 24.3… (full text at CIViC)

PMID 23222956 · Piazza et al., 2013 · Open in CIViC