Lymphoid Neoplasm

In a 10-year-old female diagnosed with B-lymphoblastic leukemia/lymphoma (B-LL/B-ALL), FISH analysis identified a CHIC2 deletion, suggestive of a FIP1L1::PDGFRA fusion, which was subsequently confirme… (full text at CIViC)

PMID 39996417 · Nunn et al., 2025 · Open in CIViC

A 10‐year‐old female patient presented with pancytopenia and normal eosinophils and had the diagnosis of B‐lymphoblastic leukemia/lymphoma. FISH identified a CHIC2 deletion, suggestive of FIP1L1::PDG… (full text at CIViC)

PMID 39996417 · Nunn et al., 2025 · Open in CIViC

A previously healthy 2-year-old girl presented with right supraorbital swelling, hepatosplenomegaly, anemia (Hb 8.2 g/dl) and leukocytosis (WBC 19.5 × 109/L) with eosinophilia of 32% and an absolute e… (full text at CIViC)

PMID 36589160 · Akiely et al., 2022 · Open in CIViC

In this study, 162 pediatric ALL patients (50 infants younger than 11 months and 112 children older than 1 year (93 B-cell precursors, 19 T-cell phenotypes)—in addition to 81 healthy donors were analy… (full text at CIViC)

PMID 14504097 · Taketani et al., 2004 · Open in CIViC

A 25-year-old Caucasian male presented with a second relapse of B-ALL. RNA sequencing revealed FLT3 overexpression (also confirmed by IHC). The patient was treated with 22 days of sunitinib, permittin… (full text at CIViC)

PMID 27181063 · Griffith et al., 2016 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

FOXO1 mutations are associated with multiple B-cell lymphomas including BL as described in the referenced study

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

In a 16-year old Caucasian female with B-lymphoblastic leukemia (B-ALL), the t(3;9)(p12;q34) was identified by cytogenetic studies. 5'RACE PCR detected the in-frame FOXP1::ABL1 (exon 19::exon 4) fusio… (full text at CIViC)

PMID 21391972 · Ernst et al., 2011 · Open in CIViC

The FOXP1::ABL1 fusion was identified in a male patient in a Dutch/German cohort of 77 BCR::ABL1-like cases. The FOXP1::ABL1 fusion was confirmed by PCR and targeted ligation amplification, and was fo… (full text at CIViC)

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

Amplification of FOXP1 is shown to be associated with ABC DLBCL.

PMID 18765795 · Lenz et al., 2008 · Open in CIViC

A 52-year-old Caucasian male with second relapsed B-ALL following chemotherapy and blinatumomab (NCT02013167). BMA obtained at study entry on the INOVATE trial (NCT01564784) was analyzed by RNA-seq an… (full text at CIViC)

PMID 34991158 · Iacobucci et al., 2022 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

Somatic mutations in this gene have been reported in several genome-wide studies of B-cell lymphomas

PMID 30275490 · Arthur et al., 2018 · Open in CIViC

The study identified recurrently mutated genes in DLBCL using whole genome sequencing.

PMID 23699601 · Morin et al., 2013 · Open in CIViC

Mutated at high frequency in both DLBCL and BL

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

A 10-year-old Caucasian boy with high risk B-cell acute lymphoblastic leukemia failed induction therapy. The patient had a complex karyotype and microarray revealed a 9p duplication involving JAK2 and… (full text at CIViC)

PMID 29773603 · Ding et al., 2018 · Open in CIViC

This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · 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

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

This study functionally characterized the role of recurrent non-coding mutations affecting exon 4 of the gene HNRNPH1. These mutations were significantly associated with shorter progression-free survi… (full text at CIViC)

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

non-coding mutations have been functionally shown to influence HNRNPH1 expression

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

Recurrence of mutations now confirmed by multiple studies

PMID 31558468 · Panea et al., 2019 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

ID3 mutations have been firmly established as a distinguishing genetic feature of BL and are one of the defining mutations in the new BL genetic subgrouping system proposed by Thomas et al

PMID 23143595 · Richter et al., 2012 · Open in CIViC

IDH2 R172 mutations were frequently observed in patients with the angioimmunoblastic T-cell lymphoma subtype of peripheral T-cell lymphomas but not observed in other subtypes.

PMID 22215888 · Cairns et al., 2012 · Open in CIViC

In patients with angioimmunoblastic T-cell lymphoma (a subtype of peripheral T-cell lymphoma), IDH2 R172 mutations (N=16) had no impact on overall survival when compared to patients with wildtype IDH2… (full text at CIViC)

PMID 26268241 · Wang et al., 2015 · Open in CIViC

The authors performed genomic profiling of 1725 cases of B-lymphoblastic leukemia/lymphoma (B-ALL). Overall, 264 of 1725 B-ALL cases (15.3%) were identified as BCR::ABL1 (Ph)-like based on their expr… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · 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

Xenografts were established from Ph-like ALL patient derived cells harboring CRLF2 rearrangements and JAK2 mutations. A xenograft with a JAK2 R683G mutation and IGH-CRLF2 rearrangement showed signific… (full text at CIViC)

PMID 22955920 · Maude et al., 2012 · Open in CIViC

This study identifies DUX4 rearrangements, specifically IGH::DUX4 fusions, as diagnostic markers for a distinct molecular subtype of Philadelphia chromosome-negative (Ph−) B-lymphoblastic leukemia/lym… (full text at CIViC)

PMID 27019113 · Yasuda et al., 2016 · Open in CIViC

This study highlights the diagnostic significance of DUX4 gene rearrangements in a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Among 1,913 B-ALL cases, including 1,347 chi… (full text at CIViC)

PMID 27776115 · Zhang et al., 2016 · Open in CIViC

This MD Anderson Cancer Center study describes six adult patients (3 males and 3 females, median age 39 yo) with t(14;19)(q32;p13) resulting in IGH::EPOR. 3 patients did not receive any prior chemothe… (full text at CIViC)

PMID 24030742 · Jaso et al., 2014 · Open in CIViC

In this 2024 case report the authors describe a case of BCR::ABL1-like B-ALL with unusual granular morphology in a female patient, 12 year old, with the following symptoms: paroxysmal headache, vomiti… (full text at CIViC)

PMID 38302862 · Long et al., 2024 · Open in CIViC