Rare Neoplasm

In an open-label, phase II trial, 18 patients with histiocytosis, including two patients with Langerhans cell histiocytosis, of any mutational status were enrolled. Patients received cobimetinib at a … (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease, one patient with ARAF S225V, and one patient with ARAF P216A, of any mutational st… (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

In this case series, 3 patients with Langerhans cell histiocytosis (LCH) were studied. Patient #1 was a 15-year-old male who has experienced five reactivations of LCH. He presented with left mastoid L… (full text at CIViC)

PMID 32991018 · Messinger et al., 2020 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease with one patient having a non-V600 BRAF mutation, of any mutational status were enr… (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis, including two patients with Langerhans cell histiocytosis, with one patient having a non-V600 BRAF mutation, of any mutational status … (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

An 8-year-old girl presented with secondary BRAF V600-mutant histiocytic sarcoma following T-cell acute lymphoblastic leukemia. After the poor response to initial salvage chemotherapy, the patient res… (full text at CIViC)

PMID 40057687 · Tan et al., 2025 · Open in CIViC

In this histology-independent, phase 2, open-label study, 26 patients (22 with Erdheim-Chester disease (ECD) and 4 Langerhans cell histiocytosis (LCH)) were administered 960 mg, twice daily doses of v… (full text at CIViC)

PMID 29188284 · Diamond et al., 2018 · Open in CIViC

In this case series, 11 patients with ECD or ECD/LCH (Seven had ECD and four had overlapped ECD/LCH) were treated with single-agent dabrafenib as initial histiocytosis therapy, following the failure o… (full text at CIViC)

PMID 29472347 · Bhatia et al., 2018 · Open in CIViC

Off-label use of vemurafenib to treat BRAF V600E mutation-positive, refractory, childhood Langerhans cell histiocytosis (LCH) was evaluated. Fifty-four patients from 12 countries were treated with vem… (full text at CIViC)

PMID 31513482 · Donadieu et al., 2019 · Open in CIViC

An 8-year-old girl presented with secondary BRAF V600-mutant histiocytic sarcoma following T-cell acute lymphoblastic leukemia. After the poor response to initial salvage chemotherapy, the patient res… (full text at CIViC)

PMID 40057687 · Tan et al., 2025 · Open in CIViC

An 8-year-old girl presented with secondary BRAF V600-mutant histiocytic sarcoma following T-cell acute lymphoblastic leukemia. After the poor response to initial salvage chemotherapy, the patient res… (full text at CIViC)

PMID 40057687 · Tan et al., 2025 · Open in CIViC

Assessment of beta-catenin mutations in a large collections of pituitary adenomas (n=60) and craniopharynangiomas (n=41), identified CTNNB1 exon 3 mutations in 77% of craniopharynangiomas, all of the … (full text at CIViC)

PMID 15891929 · Buslei et al., 2005 · Open in CIViC

Whole-exome sequencing identified CTNNB1 mutations in 11 of 12 (92%) of adamantinomatous craniopharyngiomas examined. No other recurrent mutations or genomic aberrations were identified. Targeted se… (full text at CIViC)

PMID 24413733 · Brastianos et al., 2014 · Open in CIViC

The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 (N=20), or RUNX1 (N=16) exhibited lower overall survival over 14 years as compared to D816V+ patient… (full text at CIViC)

PMID 26464169 · Jawhar et al., 2016 · Open in CIViC

The authors studied the role of the KIT D816V variant in promoting inflammation in systemic mastocytosis. They used patients’ bone marrow-derived mast cells, as well as mouse mast cell line (MCBS1, en… (full text at CIViC)

PMID 30948489 · Tobío et al., 2020 · Open in CIViC

The C121S/G128D and 56_61QKQKVG>R variants were resistant to the mitogen-activated protein kinase kinase (MEK) inhibitor trametinib in vitro. All three variant proteins constitutively phosphorylated E… (full text at CIViC)

PMID 25899310 · Nelson et al., 2015 · Open in CIViC

The C121S/G128D and 56_61QKQKVG>R variants were resistant to the mitogen-activated protein kinase kinase (MEK) inhibitor trametinib in vitro. All three variant proteins constitutively phosphorylated E… (full text at CIViC)

PMID 25899310 · Nelson et al., 2015 · Open in CIViC

Brown wt al. described ex vivo efficacy of MEK inhibition in tissue obtained from a LCH patient harboring this somatic MAP2K1 mutation. We have treated a single patient with a systemic LCH showing th… (full text at CIViC)

PMID 24982505 · Brown et al., 2014 · Open in CIViC

In this case series, 3 patients with Langerhans cell histiocytosis (LCH) were studied. Patient #1 was a 15-year-old male who has experienced five reactivations of LCH. He presented with left mastoid L… (full text at CIViC)

PMID 32991018 · Messinger et al., 2020 · Open in CIViC

Novel BRAF gene fusion in Langerhans Cell Histiocytosis lesions results in constitutive ERK activation that is responsive to second-generation BRAF and MEK inhibitors, but not to a BRAF-V600E inhibito… (full text at CIViC)

PMID 27729324 · Chakraborty et al., 2016 · Open in CIViC

In this case report, a 25-year-old female patient, with a history of  cutaneous mastocytosis at age 5 months, was presented for evaluation of systemic mastocytosis (SM). The patient went through 5 mon… (full text at CIViC)

PMID 15070706 · Akin et al., 2004 · Open in CIViC

In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC)

PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC

In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC)

PMID 11861291 · Ma et al., 2002 · Open in CIViC

In this case report, a 61 yearl-old male patient was diagnosed with systemic mastocytosis (SM). Genetic screening for KIT mutaitons, including the D816V mutation, was negative. FISH analysis showed a … (full text at CIViC)

PMID 18166785 · Lahortiga et al., 2008 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis of any mutational status were enrolled. The overall response rate was 89% (90% CI: 73 - 100). Responses were durable, with no acquired … (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis of any mutational status were enrolled. Patients received cobimetinib at a starting dose of 60 mg daily for 21 days of each 28-day cycl… (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC