Fig. 4: Histopathological examination of the choroid plexus in patient 1 showed a choroid plexus papilloma. | Genetics in Medicine

Fig. 4: Histopathological examination of the choroid plexus in patient 1 showed a choroid plexus papilloma.

From: A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Fig. 4

Microphotographs are shown at a magnification of 400× of the choroid plexus after it was partially resected in patient 1 at the age of 8 years. Thin sections from paraffin embedded tumor were used for immunohistochemistry with the following antibodies: Ki-67 (monoclonal mouse antihuman Ki-67 antigen, dilution 1:100, Dako-Denmark Agilent, product number M7240, Glostrup, Denmark), transthyretin (polyclonal rabbit antihuman prealbumin, dilution 1:3000, Dako-Denmark Agilent, product number A0002, Glostrup, Denmark) and Ini-1 (purified mouse anti-BAF47, concentration 250 µg/mL, dilution 1:100, BD Transduction Laboratories, product number 612110). a Hematoxylin-eosin staining showing that the tumor has the morphology of a choroid plexus papilloma. b Ki-67 shows a proliferative activity that was lower than normal in choroid plexus papillomas. c The tumor was positive for transthyretin, as expected for a choroid plexus papilloma

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