Hematopoietic and Lymphoid Cell Neoplasm

In this phase 1/2 clinical trial, 55 patients (40 MDS, 11 AML, 4 MDS/myeloproliferative neoplasms) with myelodysplastic syndromes harbouring TP53 mutations were treated with a combination of eprenetap… (full text at CIViC)

PMID 33449813 · Sallman et al., 2021 · Open in CIViC

In patients with relapsed/refractory chronic lymphocytic leukemia or small lymphocytic lymphoma, patients with deletion 17p and/or mutations in TP53 (N=24) were not more likely to have progressive dis… (full text at CIViC)

PMID 28473407 · Anderson et al., 2017 · Open in CIViC

In patients with relapsed /refractory chronic lymphocytes leukemia or small lymphocytic lymphoma, patients with deletion 17p and/or mutations in TP53 (N=24) were not more likely to have progressive di… (full text at CIViC)

PMID 28473407 · Anderson et al., 2017 · Open in CIViC

In mouse models, the R248Q variant had accelerated onset of all tumor types and accelerated death rate. Endogenous R248Q proteins are devoid of several important wildtype tp53 tumor-suppressor functio… (full text at CIViC)

PMID 23538418 · Hanel et al., 2013 · Open in CIViC

A 73 y.o. male with Waldenström's Macroglobulinemia, a rare type of non-Hodgkin's lymphoma, donated bone marrow upon cancer recurrence to establish the cell line MWCL1. The bone marrow was initially … (full text at CIViC)

PMID 21415268 · Hodge et al., 2011 · Open in CIViC

Phase I Trial of RG7112 in 116 heavily pretreated patients with AML, ALL, CML, CLL, sCLL demonstrated sustained clinical improvement and induction of TP53 target genes in subset of patients with wild … (full text at CIViC)

PMID 26459177 · Andreeff et al., 2016 · Open in CIViC

In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC)

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

In this 2020 study, the authors analyzed bone marrow samples from 62 B-ALL patients at diagnosis using next-generation sequencing (NGS) to search for disease-associated TYK2 gene variants. The patient… (full text at CIViC)

PMID 33260630 · Turrubiartes-Martínez et al., 2020 · Open in CIViC

In a large study of patients with primary myelofibrosis evaluating mutations associated with anemia, 457 patients were evaluated for U2AF1 mutations. U2AF1 mutations were significantly associated with… (full text at CIViC)

PMID 27058230 · Barraco et al., 2016 · Open in CIViC

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF Q157P/R mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic for poorer survival outcomes in patients with MDS.

PMID 23861105 · Wu et al., 2013 · Open in CIViC

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

After adjusting for age and cancer stage, the presence of U2AF mutations such as S34Y/F are prognostic for poorer survival outcomes in patients with MDS.

PMID 23861105 · Wu et al., 2013 · 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

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 UBR5. This gene has also been reported… (full text at CIViC)

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

UBTF tandem duplications frequently found in patients with relapsed AML.

PMID 35176137 · Umeda et al., 2022 · Open in CIViC

In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The USP25-JAK2 fusion is rare; this study involve… (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

The study showed association of the ABL1 fusions with partner genes other than BCR with a specific molecular/genetic subtype of B-lymphoblastic leukemia characterized by the expression signature simil… (full text at CIViC)

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

The study showed that in B-ALL the the presence of ABL2 fusions with different partner genes is diagnostic for the so-called BCR-ABL1-like (or Philadelphia (Ph)-like) molecular subtype of B-ALL. Ph-l… (full text at CIViC)

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

The RCSD1-ABL2 fusion was identified in a 5 yo boy with Ph-like B-ALL and Klinefelter syndrome. Following standard induction therapy the patient had an MRD of 1.2% in bone marrow, and continued to be … (full text at CIViC)

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

In a phase I study of the efficacy of ceritinib in ALK fusion positive cancer, a single patient with anaplastic large cell lymphoma was treated with 750mg daily ceritinb and had a partial response. Du… (full text at CIViC)

PMID 24670165 · Shaw et al., 2014 · Open in CIViC

This trial enrolled 26 patients with anaplastic large cell lymphoma (ALCL). The groups received twice daily crizotinib at doses of either 165 or 280 mg/m2. 83% of the 165 mg/m2 ALCL patients had a com… (full text at CIViC)

PMID 28787259 · Mossé et al., 2017 · Open in CIViC

The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC)

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

The 2016 World Health Organization guidelines for the classification of myeloid malignancies and acute leukemia describes a new class of disease defined by myeloid or lymphoid neoplasms associated wit… (full text at CIViC)

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

A case report revealed a 7 month old male infant of Bangladesh ethnicity with a novel homozygous VHL germline missense (c.376G>A; p.Asp126Asn) mutation with congenital polycythemia and dramatically el… (full text at CIViC)

PMID 24729484 · Sarangi et al., 2014 · Open in CIViC

A 12 year old white male child presented with polycythemia. Genetic testing confirmed a germline missense mutation found at c.571C>G (p.His191Asp) in the VHL gene. This is the only other case of a hom… (full text at CIViC)

PMID 16617601 · Hajnzić et al., 2006 · Open in CIViC

Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC)

PMID 19062180 · Niu et al., 2009 · Open in CIViC

In this 2011 study the authors screened B-cell lymphomas for a FISH pattern indicating an IGH break but lacking known common partners. After identifying the t(6;14)(p25;q32) with long distance inverse… (full text at CIViC)

PMID 21487109 · Salaverria et al., 2011 · Open in CIViC

In this 2020 study the authors included twenty cases classified as IRF4 positive Large B-cell lymphomas (LBCL-IRF4). The patients were aged from 5 to 22 years (median of 14 years). All cases showed po… (full text at CIViC)

PMID 31738823 · Ramis-Zaldivar et al., 2020 · Open in CIViC

In this study, 264 of 1725 precursor B-lymphoblastic leukemia (B-ALL) cases were identified as BCR::ABL1 (Ph)-like based on the expression signature similar to the BCR::ABL1 positive B-ALL; of those 2… (full text at CIViC)

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

In this study, the authors characterized 77 pediatric Ph-like B-ALL cases from the Dutch Childhood Oncology Group trials and German Cooperative ALL trials, and identified 5 cases with activated JAK si… (full text at CIViC)

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

In this 2017 study, the authors characterized 284 cases of Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) identified from a cohort of 1,389 pediatric patients with high-risk B… (full text at CIViC)

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

This retrospective Japanese multicenter study investigated kinase-activating gene fusions in pediatric B-lymphoblastic leukemia (B-ALL) lacking recurrent cytogenetic abnormalities, with the goal of de… (full text at CIViC)

PMID 27176795 · Imamura et al., 2016 · Open in CIViC

The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC)

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

The 2016 World Health Organization guidelines for the classification of myeloid malignancies and acute leukemia describes a new class of disease defined by myeloid or lymphoid neoplasms associated wit… (full text at CIViC)

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