Neoplasm of Uncertain Histogenesis

FACS-assisted shRNA genetic screen identified SOX10 as a determinant of vemurafenib resistance. Suppression of SOX10 in melanoma cells confers resistance to BRAF and MEK inhibitors through activation … (full text at CIViC)

PMID 24670642 · Sun et al., 2014 · 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 SP140.

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

A six month old M infant had a left upper extremity mass. The histology indicated mesenchymal neoplasm and no ETV6 rearrangement was found with FISH. Copy number aberrations were found together with T… (full text at CIViC)

PMID 34036219 · Zhao et al., 2021 · 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

SPHK1 protein expression was assessed in 287 cervical cancer and 5 normal cervical tissue samples using IHC. Univariate analysis for OS showed SPHK1 expression (p = 0.033; Figure 1C), tumor size (p = … (full text at CIViC)

PMID 26311741 · Kim et al., 2015 · Open in CIViC

The correlation between FGFR2/SPRY2 and clinicopathologic factors was analyzed by Chi-square to screen the FGFR2/SPRY2-relevant factors. SPRY2 low expression was demonstrated to be significantly assoc… (full text at CIViC)

PMID 28002800 · Xu et al., 2017 · Open in CIViC

This study describes a 32-year-old female with atypical chronic myeloid leukemia (aCML) and a complex translocation [(t(2;13;2;21)(p13;q12;q33;q11.2)] resulting in a novel in frame SPTBN1::FLT3 fusion… (full text at CIViC)

PMID 17764812 · Grand et al., 2007 · Open in CIViC

In 1378 cases of NSCLC screened for NTRK1 rearrangements, 2 were identified (frequency 0.1%). One patient with SQSTM1-NTRK1 was treated with entrectinib in a phase 1 study. The patient had resolution … (full text at CIViC)

PMID 26565381 · Farago et al., 2015 · Open in CIViC

Two phase I studies in patients with advanced or metastatic solid tumors, including patients with active central nervous system (CNS) disease. Here, we summarize the overall safety and report the anti… (full text at CIViC)

PMID 28183697 · Drilon et al., 2017 · Open in CIViC

Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

The SRSF2 P95L mutation, located in the RNA recognition motif domain, is a statistically significant hotspot in myeloid malignancies. In vitro studies using HeLa and K562 cells show that P95L disrupts… (full text at CIViC)

PMID 26124281 · Komeno et al., 2015 · Open in CIViC

A t(X;18) translocation resulting in the fusion SYT-SSX (SS18-SSX1 or SS18-SSX2) is detected cytogenetically in over 90% of synovial sarcomas, regardless of histologic subtype. The prevalence of this … (full text at CIViC)

PMID 11607825 · Ladanyi, 2001 · Open in CIViC

In this review, the author summarize the role of this fusion in diagnosis of synovial sarcomas. Cytogenetic studies have repeatedly demonstrated the t(X;18)(p11;q11) translocation in approximately 90%… (full text at CIViC)

PMID 11122430 · Pfeifer et al., 2000 · Open in CIViC

A t(X;18) is detected cytogenetically in over 90% of synovial sarcomas, regardless of histologic subtype. This translocation results primarily in two fusions. SYT-SSX1 (aka SS18-SSX1) and SYT-SSX2 (ak… (full text at CIViC)

PMID 11607825 · Ladanyi, 2001 · Open in CIViC

A characteristic SYT-SSX fusion gene resulting from the chromosomal translocation t(X;18)(p11;q11) is detectable in almost all synovial sarcomas. SYT (aka SS18) pairs with various 3' partners know as … (full text at CIViC)

PMID 9428816 · Kawai et al., 1998 · Open in CIViC

Three synovial sarcomas were assayed for SYT-SSX fusion messenger RNA by nested RT-PCR. In a single case an SYT-SSX4 (SS18-SSX4) fusion was detected. The majority of synovial sarcomas are characterize… (full text at CIViC)

PMID 10359553 · Skytting et al., 1999 · Open in CIViC

Patients originated from 4 international (UK, Netherlands, Germany, and US) studies, and included 16 B-cell precursor ALL (B-ALL) patients (aged 2-29 years) with SSBP2-CSF1R fusions arising from diffe… (full text at CIViC)

PMID 33197935 · Schwab et al., 2021 · Open in CIViC

A multicenter, retrospective study that included 1389 consecutively enrolled, newly diagnosed patients with B-lineage acute lymphoblastic leukemia (B-ALL). There were 3 patients that harbored SSPB2-CS… (full text at CIViC)

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

In this study which included 1389 cases of high-risk pediatric B-ALL, 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on CRLF2 n… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · 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 SSBP2-JAK2 fusion is rare; In this study invol… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · Open in CIViC

Phase II study of pasireotide in metastatic neuroendocrine tumours enrolled 29 patients. Overall median PFS was 11 months (95% CI, 7.6–16 months). High SSTR5 expression (seen in 17/22 samples measured… (full text at CIViC)

PMID 25376618 · Cives et al., 2015 · Open in CIViC

The STAG2 p.His421Thrfs*4 mutation is a truncating frameshift variant located in exon 14 of the STAG2 gene, a core component of the cohesin complex. Truncating mutations in STAG2 are recurrent across … (full text at CIViC)

PMID 22135298 · Hornbeck et al., 2012 · Open in CIViC

In a study of 96 Ewing sarcoma tumors, 15% showed heterogenous loss of STAG2 expression in IHC analysis. Of those with STAG2 expression loss, 88% presented with metastatic disease compared to only 27… (full text at CIViC)

PMID 25186949 · Crompton et al., 2014 · Open in CIViC

Sequencing of 93 secondary acute myeloid leukemias (AML) compared to 180 TCGA de novo AMLs identified STAG2 mutations had >95% sensitivity for being diagnostic of secondary AML, identifying a patient … (full text at CIViC)

PMID 25550361 · Lindsley et al., 2015 · Open in CIViC

Tumor samples from 125 patients with bladder cancer were assessed by IHC for STAG2 expression. STAG2-negativity was associated with lower histological grade (p = 0.009). Complete loss of STAG2 express… (full text at CIViC)

PMID 26838030 · Qiao et al., 2016 · Open in CIViC

A375 melanoma cells containing an inducible shRNA for STAG2 were grown as xenograft tumors in nude mice. The mice in which STAG2 was silenced had tumors that were less sensitive to vemurafenib-induced… (full text at CIViC)

PMID 27500726 · Shen et al., 2016 · Open in CIViC

A375 melanoma cells containing an inducible shRNA for STAG3 were grown as xenograft tumors in nude mice. The mice in which STAG3 was silenced had tumors that were less sensitive to vemurafenib-induced… (full text at CIViC)

PMID 27500726 · Shen et al., 2016 · Open in CIViC

A cohort of 28 patients with malignant melanoma, with previously excised high-risk lesions were evaluated for STAT1 and STAT2 expression prior to treatment with v. interferon-alpha 2b (IFN-a2b). Stain… (full text at CIViC)

PMID 15668815 · Lesinski et al., 2005 · Open in CIViC

Researchers calculated Spearman rank correlation coefficients for each gene vs proliferation rate and platinum drug sensitivity in 14 ovarian cancer cell lines. STAT1 expression was found to be highly… (full text at CIViC)

PMID 15726096 · Roberts et al., 2005 · Open in CIViC

The authors sequenced exons 19–24 of STAT3 (the region where the hot spot has been reported in other malignancies) in 48 diffuse large B-cell lymphoma samples.

PMID 24837465 · Ohgami et al., 2014 · Open in CIViC

Mutations in the Src homology 2 (SH2) domain (exon 21) of STAT3 were found in 31 of 77 patients (40%) with large granular lymphocytic leukemia. Recurrent mutational hot spots included Y640F, D661V, D6… (full text at CIViC)

PMID 22591296 · Koskela et al., 2012 · Open in CIViC

The examination of interferon-resistant melanoma cell lines in relation to STAT5 expression, indicated a correlation between overexpression and resistance to interferon α (IFNα) immunotherapy. From an… (full text at CIViC)

PMID 16169484 · Wellbrock et al., 2005 · Open in CIViC

Meta-analysis of 275 T-cell prolymphocytic leukemia (T-PLL) patients from 10 different studies. Sequencing data from each study (Sanger sequencing, targeted amplicon sequencing, whole exome sequencing… (full text at CIViC)

PMID 31766351 · Wahnschaffe et al., 2019 · Open in CIViC

The authors analyzed exome data from 38 relapsed DLBCLs and 138 diagnostic DLBCLs and identified genes enriched for mutations in the former relative to the latter.

PMID 26647218 · Morin et al., 2016 · Open in CIViC