Malignant Bone Marrow Neoplasm

The presence of NRAS mutation in AML patients does not impact diease prognosis (resistant disease, disease-free survival, complete remission rate, relapse rate, induction death).

PMID 15951308 · Bowen et al., 2005 · Open in CIViC

In this study deep sequencing was performed on 185 patients with hematological malignancies, and the NTRK2 A203T substitution was detected in one case of primary myelofibrosis. The substitution is loc… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

Deep sequencing of samples from 185 patients with different hematological malignancies detected an NTRK2 A203T substitution in one case of primary myelofibrosis. When stably expressed into murine inte… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

This variant was found in one case of atypical CML out of 185 hematological malignancies. The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical me… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

The authors propose that NTRK2 R458G, residing in the juxtamembrane domain, activates TrkB via noncanonical mechanisms that may involve altered interactions between the mutant receptor and lipids in t… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

In this study >1000 well-characterized pediatric and adult AML cases were screened using a NUP98/NSD1-specific RT-PCR. In the pediatric cohort (n = 293; age, 0-18 years), NUP98/NSD1 was present in 16.… (full text at CIViC)

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

This publication examines coexpression of NUP98/NSD1 and FLT3/ITD in AML, remission, and survival rate in 1421 patients. The CR rate for patients with and without FLT3/ITD was 63% and 82%, respectivel… (full text at CIViC)

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

In this 2016 study the authors included 153 pediatric non-Down syndrome patients diagnosed with acute megakaryoblastic leukemia (AMKL) which is a rare subtype of acute myeloid leukemia. All patients w… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

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 an in vitro kinase study, the recombinant PDGFRA D842V mutant kinase demonstrated sensitivity to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 25 and 6) when compared to wild t… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · 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

We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC)

PMID 12717436 · Tartaglia et al., 2003 · 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

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

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