Mayo Clinic Laboratories > Hematology > Lymphoid neoplasms > Histiocytic neoplasms

Histiocytic neoplasms

Diagnose complex cases with confidence through focused evaluation

Histiocytic neoplasms are a rare and heterogenous group of disorders that include Erdheim-Chester disease, Langerhans cell histiocytosis, juvenile xanthogranuloma, histiocytic sarcoma, and Rosai-Dorfman disease. With diverse clinical presentations, including focal or diffuse multiple organ disease, establishing a diagnosis of these rare disorders can be challenging. However, because targeted therapies are available for most patients, determining the correct diagnosis is crucial.

Genomic profiling studies have demonstrated that histiocytic neoplasms are frequently driven by alterations involving the mitogen-activated protein kinase signaling (MAPK) pathway. Less commonly, alterations in the phosphatidylinositol-3-kinase (PI3K) pathway drive these conditions.

50%

50% of histiocytic neoplasm cases involve BRAF v600E variation

MAP2K1

MAP2K1 mutations are found in patients with wild-type BRAF

Histiocytic neoplasms test menu

Histiocytic neoplasms testing Histiocytic neoplasms testing

Histiocytic neoplasms testing

Next-generation sequencing (NGS) can be used to supplement standard of care testing when deemed clinically necessary. Our concise next-generation sequencing panel profiles genes commonly mutated in the biologic pathways (BRAF, ARAF, NRAS, KRAS, MAP2K1, PIK3CA) that drive these disorders to provide further insight on disease origins, differential diagnosis, and therapeutic decision-making.

Key testing

  • NGHIS | MayoComplete Histiocytic Neoplasms, Next-Generation Sequencing, Varies
    • Uses NGS to evaluate eight genes and select intronic regions, including: ARAF, BRAF, CSF1R, KRAS, MAP2K1, NRAS, PIK3CA, and PTEN.
    • Results clarify and confirm diagnosis in histiocytic/dendritic disorders.
    • Informs on prognosis and risk stratification through the identification of specific markers such as BRAF V600E in Langerhans cell histiocytosis.
    • Assists in the selection of suitable therapeutics (RAF or MEK inhibitors).
    • Facilitates access to U.S. FDA-approved therapies.
Learn more Hematology, oncology, and hereditary test selection guide
Learn more Malignant Histiocytosis Comprises a Phenotypic Spectrum That Parallels the Lineage Differentiation of Monocytes, Macrophages, Dendritic Cells, and Langerhans Cells
References
  1. Goyal G, Young J, Koster W, et al. The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease. Mayo Clin Proc. 2019 Oct;94(10):2054-2071. doi:10.1016/j.mayocp.2019.02.023
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