A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy

The main pathogenetic mechanism of the development of pediatric low grade gliomas (pLGGs) is genetic aberrations in BRAF gene. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. We analyzed the clinical and molecular characteristics of 69 patients with LGGs. Molecular genetic testing for BRAF V600E mutation was performed by allele-specific real-time PCR and Sanger sequencing. BRAF V600E mutation was detected in 15 (21.7%) patients with LGG. The majority of BRAF-mutated cases of LGGs had the midline location: OPG – 7, subcortical ganglia – 1, brainstem – 2. The 2-year PFS was much worse in patients with BRAF V600E compared to patients without this mutation – 30% and 66.2%, respectively. The median time to progression for patients with BRAF V600E mutation was 9.5 months compared to 3.1 years for patients without indicated substitution. 5 patients with BRAF V600E-mutated LGGs who experienced progression after the conventional treatment, received targeted therapy (BRAF-inhibitor-3, BRAF + MEK inhibitors – 2) with good response (complete response – 2, partial response – 3). BRAF V600E mutation contributes to poor outcome in patients with LGGs Targeted therapy could be effective in this cohort of patients.

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Gastrointestinal perforation following dabrafenib and trametinib administration in non-small cell lung carcinoma with BRAF V600E mutation: a case report and literature review

Investigational New Drugs ◽

10.1007/s10637-021-01135-0 ◽

2021 ◽

Author(s):

Yuri Shimada ◽

Yuki Sato ◽

Ryo Tachikawa ◽

Shigeo Hara ◽

Keisuke Tomii

Keyword(s):

Case Report ◽

Literature Review ◽

Lung Carcinoma ◽

Small Cell Lung Carcinoma ◽

Small Cell ◽

Braf V600e Mutation ◽

Gastrointestinal Perforation ◽

Braf V600e ◽

Small Cell Lung ◽

Cell Lung Carcinoma

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LGG-23. EXCELLENT CLINICAL / RADIOLOGICAL RESPONSE TO BRAF INHIBITION IN A YOUNG CHILD WITH IN-OPERABLE SUPRA-SELLAR PILOCYTIC ASTROCYTOMA

Neuro-Oncology ◽

10.1093/neuonc/noaa222.405 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii370-iii371

Author(s):

Stacy Chapman ◽

Demitre Serletis ◽

Colin Kazina ◽

Mubeen Rafay ◽

Sherry Krawitz ◽

...

Keyword(s):

Targeted Therapy ◽

Pilocytic Astrocytoma ◽

Clinical Symptoms ◽

Obstructive Hydrocephalus ◽

Braf V600e Mutation ◽

Braf V600e ◽

Low Grade ◽

Dramatic Improvement ◽

Chemotherapeutic Regimen ◽

Response To Chemotherapy

Abstract In-operable low grade gliomas (LGG) in the pediatric population continue to present a treatment dilemma. Due to the low-grade nature of these tumors, and variable response to chemotherapy / radiation, the choice of adjuvant treatment is difficult. Overall survival is directly related to the degree of surgical resection, adding complexity to these inoperable tumors. Current chemotherapeutic regimen for these inoperable tumors includes vincristine (VCR) and carboplatin (Carbo). With advancements in the molecular characterization of gliomas, the role of targeted therapy has come into question. We present a 2-year-old female with biopsy proven Pilocytic Astrocytoma (positive BRAF-V600E mutation) involving the hypothalamic/optic chiasm region. She presented with ataxic gait, bi-temporal hemianopia, obstructive hydrocephalus and central hypothyroidism, which progressed to altered consciousness, and right hemiparesis due to location/mass effect of the tumor. She was initially treated with chemotherapy (VCR/Carbo) but her tumor progressed at 6 weeks of treatment. As her tumor was positive for BRAF-V600E mutation, she was started on Dabrafenib monotherapy, resulting in dramatic improvement in her clinical symptoms (able to stand, improved vision), and a 60% reduction in tumor size at 3-months. At 6-months, follow up MRI showed slight increase in the solid portion of the tumor, with no clinical symptoms. We plan to add MEK inhibitor (Trametinib) and continue with Dabrafenib. Our experience and literature review suggests that LGG with BRAF-V600E mutations may benefit from upfront targeted therapy. Prospective clinical trials comparing the efficacy of BRAF inhibitors versus standard chemotherapy in LGG with BRAF mutations are urgently needed.

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Secondary histiocytic sarcoma with BRAF V600E mutation responsive to MAPK‐targeted therapy presenting with recurrence with mTOR mutation responsive to mTOR‐targeted therapy

Pediatric Blood & Cancer ◽

10.1002/pbc.29166 ◽

2021 ◽

Author(s):

Vinayak Venkataraman ◽

Lucas R. Massoth ◽

Ryan J. Sullivan ◽

Alison M. Friedmann

Keyword(s):

Targeted Therapy ◽

Braf V600e Mutation ◽

Histiocytic Sarcoma ◽

Braf V600e

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Targeted therapy for non-small cell lung cancer (NSCLC) with HER2, BRAF, or hedgehog alterations: Interim data from MyPathway.

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.9073 ◽

2017 ◽

Vol 35 (15_suppl) ◽

pp. 9073-9073 ◽

Cited By ~ 3

Author(s):

John D. Hainsworth ◽

Ron Bose ◽

Christopher Sweeney ◽

Funda Meric-Bernstam ◽

Herbert Hurwitz ◽

...

Keyword(s):

Targeted Therapy ◽

Objective Response ◽

Complete Response ◽

Braf V600e ◽

Egfr Mutations ◽

Efficacy Analysis ◽

Molecular Alterations ◽

Activating Mutations ◽

Previously Treated ◽

Tumor Types

9073 Background: Treatments targeting critical molecular alterations (EGFR, ALK, and ROS1) in NSCLC are highly effective. MyPathway (NCT02091141) is an ongoing, phase 2, multi-basket study evaluating the efficacy of targeted treatment in non-indicated tumor types harboring alterations in the HER2, BRAF, Hedgehog (Hh), or EGFR pathways. Interim results in NSCLC are presented. Methods: Patients with previously treated advanced NSCLC and alterations in the HER2 (amplification and/or mutation), BRAF (V600E or other mutations), Hh (SMO or PTCH-1 mutations), or EGFR (mutations other than known activating mutations) pathways received standard doses of pertuzumab + trastuzumab, vemurafenib, vismodegib, or erlotinib, respectively, until disease progression or unacceptable toxicity. The HER2, BRAF, and Hh cohorts are included in this analysis. The primary endpoint is investigator-assessed objective response rate (ORR, defined as complete response [CR] + partial response [PR]) by RECIST v1.1. Results: As of November 30, 2016, 61 patients with NSCLC and HER2 (n = 36), BRAF (n = 22), or Hh (n = 3) alterations have been treated (median age of 64 years, 49% male, 85% adenocarcinoma, and a median of 2 previous regimens). Median treatment duration was 1.8 (range, 0–21.4) months. Efficacy in the 55 patients with the minimum required follow-up for efficacy analysis is summarized in the table. Conclusions: Targeted therapy is active in patients with previously treated NSCLC harboring BRAF V600E mutations or HER2 alterations (amplifications and/or mutations). These cohorts have been expanded as MyPathway accrual continues. Additional efficacy data and details regarding molecular alterations will be presented. Clinical trial information: NCT02091141. [Table: see text]

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Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report

Journal of Neurosurgery Pediatrics ◽

10.3171/2016.1.peds15558 ◽

2016 ◽

Vol 18 (1) ◽

pp. 53-57 ◽

Cited By ~ 5

Author(s):

Marta Cicuendez ◽

Elena Martinez-Saez ◽

Francisco Martinez-Ricarte ◽

Esteban Cordero Asanza ◽

Juan Sahuquillo

Keyword(s):

Case Report ◽

Tumor Recurrence ◽

Pleomorphic Xanthoastrocytoma ◽

Braf V600e Mutation ◽

Braf V600e ◽

Rare Tumor ◽

Total Resection ◽

Cell Lineages ◽

Cellular Origin ◽

History Of

Combined pleomorphic xanthoastrocytoma (PXA) and ganglioglioma (GG) is an extremely rare tumor, with fewer than 20 cases reported. The authors report a case of combined PXA-GG in an 18-year-old man with a history of seizures. The tumor showed necrosis and the BRAF V600E mutation on histological examination, with no evidence of tumor recurrence 1 year after gross-total resection. The BRAF V600E mutation was present, which suggests that both cell lineages may share a common cellular origin.

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