Meningeosis carcinomatosa als seltener Metastasierungsweg eines BRAF-mutierten Mikrosatelliten-stabilen Kolonkarzinoms

Zusammenfassung

Eine Meningeosis neoplastica ist eine seltene, aber schwerwiegende Komplikation solider Neopasien (Melanome, Mamma-, Bronchial- oder gastrointestinale Karzinome). Die klinische Manifestation der Meningeosis ist äußerst variabel. Sie äußert sich z. B. in radikulären Schmerzen mit oder ohne neurologischen Ausfällen sowie in Kopfschmerzen bis hin zu halluzinatorischen Reizsymptomen. Ob dieses unspezifischen Symptomcharakters wird eine Meningeosis neoplastica häufig zu spät diagnostiziert und behandelt. Wir berichten hier über den seltenen Fall einer Patientin mit einem lymphatisch und ossär metastasierten BRAF-mutierten Mikrosatelliten-stabilen Kolonkarzinom, welche einen Monat nach der Diagnosestellung neurologische Reiz- und Ausfallsymptome entwickelte. Durch den zytologischen Nachweis von Tumorzellen im Liquorsediment konnte – trotz einer unauffälligen MRT-Diagnostik – eine Meningeosis carcinomatosa gesichert werden. Unter einer intrathekalen Therapie mit Methotrexat, kombiniert mit einer intensiven systemischen Antikörperchemotherapie, wurde passager eine gute partielle Remission der Tumorerkrankung erreicht. Ca. 8 Monate nach Therapiebeginn entwickelte jedoch die Patientin eine progrediente Meningeosis und verstarb wenige Wochen später.

Abstract

Leptomeningeal carcinomatosis is a rare but serious complication of solid tumors such as melanoma, breast and lung cancer, as well as gastrointestinal carcinomas. Its clinical manifestation is highly variable, presenting as radicular pain with or without neurological deficits, as well as with headaches and hallucinatory irritation symptoms. Leptomeningeal carcinomatosis is often misdiagnosed, which delays treatment. Here we report a rare case of a patient with BRAF-mutated microsatellite stable colon carcinoma with lymphatic and skeletal metastases, who developed neurological symptoms one month after the initial diagnosis of malignancy. Based on the cytological detection of tumor cells in the cerebrospinal fluid, a leptomeningeal carcinomatosis was diagnosed, despite normal findings on MRI. Intrathecal chemotherapy with methotrexate, combined with intensive systemic immunochemotherapy, resulted in a good partial remission of the underlying malignant disease. However, approximately 8 months after the start of therapy, the patient developed progressive leptomeningeal carcinomatosis and died a few weeks later.

Schlüsselwörter

kolorektales Karzinom - Meningeosis carcinomatosa - BRAF-Mutation

Key words

colorectal cancer - leptomeningeal carcinomatosis - BRAF mutation

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