case_images: PMC4794526_01
case_images: Heterogenous tumor within the right cerebello-pontine angle causing severe compression of the brainstem. This T2-weighted MRI image in the transversal plane illustrates the extrinsic nature of the lesion with a differential diagnosis of meningioma or Schwannoma
case_images: 10048_2015_472_Fig1_HTML.jpg
case_images: PMC4794526_01_10048_2015_472_Fig1_HTML.jpg
case_images: Fig1
case_images: The MRI scan of the brain showed a large extrinsic tumor in the right cerebello-pontine angle with severe compression and displacement of the brainstem (Fig. 1).
case_images: H&E staining of the tumor (a, magnification x20), partly consisting of clear cells on the right side. The asterisk indicates meningothelial cells. In (b) to (d) more detailed micrographs (magnification x40) of the clear cell component after PAS, EMA and progesterone receptor staining, respectively
case_images: 10048_2015_472_Fig2_HTML.jpg
case_images: PMC4794526_01_10048_2015_472_Fig2_HTML.jpg
case_images: Fig2
case_images: Pathological examination of the tumor showed a clear cell type meningioma, WHO grade II (Fig 2).
case_images: DNA sequencing chromatograms from the patient's blood lymphocyte DNA and tumor DNA from fresh frozen tissue, and a normal control for reference. The mutation locus of the SMARCE1 c.814delA frameshift mutation is indicated by the red arrows. In blood lymphocyte (germline) DNA, the mutation is present in heterozygous state, while in the tumor, it is present in homozygous state, indicating loss-of-heterozygosity (LOH) at the mutation locus. The minimal amount of wild-type sequence that is visible in the tumor sample is caused by a small amount of normal tissue mixed with the tumor cells (color figure online)
case_images: 10048_2015_472_Fig3_HTML.jpg
case_images: PMC4794526_01_10048_2015_472_Fig3_HTML.jpg
case_images: Fig3
case_images: Analysis of tumor DNA showed homozygosity of this mutation indicating loss-of-heterozygosity (LOH) at the mutation locus (Fig 3).
case_images: Pedigree of the family with the SMARCE1 mutation. Current age is mentioned below the square/circle. + = mutation positive, - = mutation negative. Solid black = CCM patient, age of detection of CCM is mentioned below the current age. Solid white = clinically asymptomatic.? = testing not started yet
case_images: 10048_2015_472_Fig4_HTML.jpg
case_images: PMC4794526_01_10048_2015_472_Fig4_HTML.jpg
case_images: Fig4
case_images: The family pedigree is shown in Fig. 4.