KRAS Footprints in the Skin: Leveraging Targeted Therapy for Unresectable Intra-Cerebral AVM.

Donglin Zhang, Jennifer M Kwon, Beverly Aagaard-Kienitz, Susan L Rebsamen, Sarah E Mc Dermott, Lisa M Arkin

Abstract readCase Reports

In one paragraph

Article in Pediatric dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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5 · Who and what money

Authors and funding

6 authors.

Donglin ZhangDepartment of Dermatology, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.ORCID https://orcid.org/0000-0001-6389-8960

Jennifer M KwonDepartment of Neurology, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.

Beverly Aagaard-KienitzDepartment of Neurological Surgery, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.

Susan L RebsamenDepartment of Radiology, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.

Sarah E Mc DermottDivision of Hematology, Oncology, Transplant and Cellular Therapy, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.

Lisa M ArkinDepartment of Dermatology, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 15-year-old female with a longstanding, unresectable intracerebral arteriovenous malformation (AVM) involving the bilateral thalami and basal ganglia presented with progressive neurologic decline. Given the inaccessibility of the intracranial lesion, a lipomatous scalp nodule overlying the AVM was biopsied for molecular testing and revealed a somatic mosaic KRAS p.G12D variant, the most common variant detected in sporadic brain AVMs. Targeted therapy with the MEK inhibitor trametinib was initiated, but the treatment course was complicated by cutaneous toxicity and ongoing neurologic deterioration. This case illustrates that extracranial tissue in the skin can serve as a surrogate for molecular diagnosis in unresectable brain AVMs, underscoring the diagnostic and therapeutic importance of dermatologic assessment in complex vascular anomalies.

Indexed as

Intracranial Arteriovenous MalformationsProto-Oncogene Proteins p21(ras)PyridonesPyrimidinonesAdolescentFemaleHumansKRAS protein, humanProto-Oncogene Proteins p21(ras)PyridonesPyrimidinonestrametinibarteriovenous malformationscentral nervous system vascular malformationsintracranial arteriovenous malformationsKRAS proteinvascular malformations

Identifiers

PMID41461151

DOI10.1111/pde.70126

PMCPMC13050997

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.