Acute Leukemia

In this 2011 study the authors included pediatric and adult cohorts of patients diagnosed with acute myeloid leukemia (AML). Initially, using RT-PCR, they detected the cytogenetically cryptic NUP98::N… (full text at CIViC)

PMID 21813447 · Hollink et al., 2011 · Open in CIViC

In this 2014 study the authors investigated the presence of NUP98::NSD1 fusion in pediatric and adult acute myeloid leukemia (AML) patients. Utilizing reverse transcriptase-polymerase chain reaction (… (full text at CIViC)

PMID 25145343 · Ostronoff et al., 2014 · Open in CIViC

In this 2023 study the authors included 2,235 children and young adults diagnosed with acute myeloid leukemia (AML). NUP98 fusions were detected in these patients either by karyotype of RNA sequencing… (full text at CIViC)

PMID 36815378 · Bertrums et al., 2023 · Open in CIViC

CRLF2 overexpression was examined in 90 adult B-ALL patients with demographic data that lacked characteristic rearrangements and identified overexpression in 15/90 (16.67%). Disease-free survival was … (full text at CIViC)

PMID 20018760 · Yoda et al., 2010 · Open in CIViC

CRLF2 overexpression was performed by Q-PCR, IHC, and gene-expression profiling of 254 adult B-ALL samples. CRLF2 overexpression was identified in 15/120 (12.5%) or adult B-ALL cases that lacked chara… (full text at CIViC)

PMID 20018760 · Yoda et al., 2010 · Open in CIViC

Ba/F3 cells transduced with PAG1::ABL2 Fusion were found to show IL3 independent growth. Phosphoflow cytometric analysis showed increased phospho-STAT5, phospho-CRKL, and phospho-S6 over control Ba/F3… (full text at CIViC)

PMID 29296813 · Roberts et al., 2017 · Open in CIViC

RNA-seq transcriptome analysis in a discovery cohort of 170 B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cases negative for the common classifying cytogenetic aberrations identified severa… (full text at CIViC)

PMID 30510083 · Passet et al., 2019 · Open in CIViC

In a large-scale international study RNA sequencing was performed to delineate the transcriptome landscape of 1,223 B-cell ALL cases. Twenty two cases were found to have P80R misense mutation in the D… (full text at CIViC)

PMID 30487223 · Li et al., 2018 · Open in CIViC

In a retrospective cohort study of 39 pediatric AML patients carrying PICALM::MLLT10 fusions, both the 5-year event-free survival rate (22%) and 5-year overall survival rate (26%) were poor.

PMID 37743097 · Mark et al., 2024 · Open in CIViC

Mutations in the B2 domain of PML in the PML-RARa fusion have been shown to be associated with resistance to standard ATRA treatment in patients with acute promyelocytic leukemia.

PMID 23670176 · Tomita et al., 2013 · Open in CIViC

A novel seven amino acid deletion (p.K227_T233del) in the RARA region was detected in a refractory APL patient. The PML-RARA mutant was transduced into HL-60 cells and these in-vitro PML-RARA expressi… (full text at CIViC)

PMID 30289902 · Hattori et al., 2018 · Open in CIViC

The presence of the PML-RARa fusion protein is a diagnostic marker of Acute Promyelocytic Leukemia, or M3 AML.

PMID 7628753 · Diverio et al., 1995 · Open in CIViC

In this study, the authors explored the role of retinoic acid receptor alpha (RARα) gene rearrangements in acute promyelocytic leukemia (APL) and their connection to the t(15;17) chromosomal transloca… (full text at CIViC)

PMID 2170850 · de Thé et al., 1990 · Open in CIViC

ive point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these patients was amplified using polymerase chain… (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia.

PMID 21613260 · Goto et al., 2011 · Open in CIViC

The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide.

PMID 21613260 · Goto et al., 2011 · Open in CIViC

Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

The authors report a case of a 6-year-old child with leukemia and the clinical and morphologic characteristics of acute promyelocytic leukemia (APL), but without evidence of the expected t(15;17) or a… (full text at CIViC)

PMID 34432867 · Astolfi et al., 2021 · Open in CIViC

The authors report a TTMV-RARA (viral fusion) in a 39-year-old patient with leukemia and blasts that were APL-like with increased promyelocytes. The fusion was identified by targeted long read sequenc… (full text at CIViC)

PMID 35420676 · Sala-Torra et al., 2022 · Open in CIViC

AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL1, is a defined diagnostic subgroup in the 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukem… (full text at CIViC)

PMID 27069254 · Arber et al., 2016 · Open in CIViC

AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL, is a defined subgroup of AML in the WHO 2016 classification of myeloid neoplasms and acute leukemias. In this manuscript by O'Brien et al, o… (full text at CIViC)

PMID 22918081 · O'Brien et al., 2013 · 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