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Related Experiment Videos

Encephalocraniocutaneous Lipomatosis.

Abhishek Bavle1, Rikin Shah2, Naina Gross3

  • 1Jimmy Everest Section of Pediatric Hematology/Oncology.

Journal of Pediatric Hematology/Oncology
|April 24, 2018
PubMed
Summary

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Encephalocraniocutaneous lipomatosis (ECCL) is a rare RASopathy. A patient with ECCL and pilocytic astrocytoma harboring an FGFR1 mutation showed tumor stabilization with trametinib, a MEK inhibitor.

Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital disorder.
  • ECCL is part of the RASopathy family, characterized by RAS-MAPK pathway dysregulation.
  • Patients with ECCL have an increased risk of developing neoplasms.

Purpose of the Study:

  • To report a case of a pediatric patient with ECCL and pilocytic astrocytoma.
  • To investigate the genetic basis of the patient's condition.
  • To evaluate the efficacy of targeted therapy in a patient with refractory disease.

Main Methods:

  • Clinical presentation and diagnostic imaging.
  • Surgical debulking and histopathological analysis of the suprasellar mass.
  • Targeted sequencing of a subcutaneous mass to identify genetic mutations.

Related Experiment Videos

  • Treatment with trametinib, a MEK inhibitor, off-label.

    • Main Results:

    • Diagnosis of pilocytic astrocytoma and encephalocraniocutaneous lipomatosis (ECCL).
    • Identification of a mosaic activating FGFR1 mutation (c.1966A>G, p.Lys656Glu) in the patient.
    • Tumor progression despite multiple chemotherapy regimens.
    • Tumor stabilization after 6 months of trametinib therapy.

    Conclusions:

    • Mosaic FGFR1 mutations can drive tumorigenesis in ECCL.
    • Targeting the MAPK pathway with MEK inhibitors like trametinib may be a viable therapeutic strategy for refractory pilocytic astrocytoma in ECCL.
    • This case highlights the importance of molecular profiling for guiding treatment decisions in rare genetic disorders.