The Value of BRAF VE1 Immunoexpression in Pediatric Langerhans Cell Histiocytosis

Phan, Dang Anh Thu; Phung, Gia Bao; Duong, Thanh Tu; Hoang, Anh Vu; Ngo, Quoc Dat; Tran, Thanh Tung

doi:10.1080/15513815.2020.1857483

Cited by 3 publications

(2 citation statements)

References 35 publications

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“…Rare actionable mutations (e.g., V600K) may also be missed using VE1 IHC alone (132,136). The discrepancies between VE1 IHC and PCR assays have also been described in the kidney's BRAFV600E -mutated metanephric adenomas, pituitary adenomas, and Langerhans cell histiocytosis (51,137,138).…”

Section: Diagnostic Approaches For Braf Mutationsmentioning

confidence: 99%

Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group

Vranić

Basu

Hall

et al. 2023

ama

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In the present review, we briefly discuss the breakthrough advances in precision medicine using a tumor-agnostic approach and focus on BRAF treatment modalities, the mechanisms of resistance and the diagnostic approach in cancers with BRAF mutations. Tumor-type agnostic drug therapies work across cancer types and present a significant novel shift in precision cancer medicine. They are the consequence of carefully designed clinical trials that showed the value of tumor biomarkers, not just in diagnosis but in therapy guidance. Six tumor-agnostic drugs (with seven indications) have been approved through October 2022 by FDA. The first tumor-agnostic treatment modality was pembrolizumab for MSI-H/dMMR solid tumors, approved in 2017. This was followed by approvals of larotrectinib and entrectinib for cancers with NTRK fusions without a known acquired resistance mutation. In 2020, pembrolizumab was approved for all TMB-high solid cancers, while a PD-L1 inhibitor dostarlimab-gxly was approved for dMMR solid cancers in 2021. A combination of BRAF/MEK inhibitors (dabrafenib/trametinib) was approved as a tumor-agnostic therapy in June 2022 for all histologic types of solid metastatic cancers harboring BRAFV600E mutations. In September 2022, RET inhibitor selpercatinib was approved for solid cancers with RET gene fusions.Conclusion. Precision cancer medicine has substantially improved cancer diagnostics and treatment. Tissue type-agnostic drug therapies present a novel shift in precision cancer medicine. This approach rapidly expands to provide treatments for patients with different cancers harboring the same molecular alteration.

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Section: Diagnostic Approaches For Braf Mutationsmentioning

confidence: 99%

Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group

Vranić

Basu

Hall

et al. 2023

ama

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“…However, studies evaluating IHC versus PCR testing of BRAF V600E mutations in pediatric patients with LCH (using stringent scoring criteria 47 ) showed sensitivity values ranging from 35.6% to 80%; specificity values ranged from 75.5% to 100%. 48,49 BRAF V600E allele-specific PCR is recommended if IHC is unavailable or when BRAF V600E (VE1) IHC results are equivocal or negative. A comprehensive NGS panel including other genes in the MAPK pathway (ie, ARAF, NRAS, KRAS, MAP21K, PIK3CA) should be performed in patients with BRAF wild-type disease.…”

Section: Langerhans Cell Histiocytosismentioning

confidence: 99%

Histiocytic Neoplasms, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology

Go¹,

Jacobsen

Baiocchi

et al. 2021

Journal of the National Comprehensive Cancer Network

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Histiocytic neoplasms are rare hematologic disorders accounting for less than 1% of cancers of the soft tissue and lymph nodes. Clinical presentation and prognosis of these disorders can be highly variable, leading to challenges for diagnosis and optimal management of these patients. Treatment often consists of systemic therapy, and recent studies support use of targeted therapies for patients with these disorders. Observation (“watch and wait”) may be sufficient for select patients with mild disease. These NCCN Guidelines for Histiocytic Neoplasms include recommendations for diagnosis and treatment of adults with the most common histiocytic disorders: Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease.

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Langerhans Cell Histiocytosis in a Pediatric Patient with Simultaneous Gastrointestinal and Skin Involvement: A Case Report and Literature Review

Fang

Deng

et al. 2022

Fetal and Pediatric Pathology

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The Value of BRAF VE1 Immunoexpression in Pediatric Langerhans Cell Histiocytosis

Cited by 3 publications

References 35 publications

Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group

Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group

Histiocytic Neoplasms, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology

Langerhans Cell Histiocytosis in a Pediatric Patient with Simultaneous Gastrointestinal and Skin Involvement: A Case Report and Literature Review

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