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Neuropathology-Giessen / GIN-DNA-Panel-Details

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Embryonal tumor with multilayered rosettes: C19MC, DICER1 #42

Closed DanielAmsel closed 2 years ago

DanielAmsel commented 2 years ago

DICER1 added

Better in EPIC/850k.

From: https://www.molecularneuropathology.org/mnp/classifiers/11

"The "mf Embryonal tumour with multilayered rosettes" is comprised of tumours with the diagnosis embryonal tumour with multilayered rosettes, C19mc-altered (90%) and embryonal tumour with multilayered rosettes, C19mc-non-altered (10%). The majority of tumours are located supratentorially. Median age is 3 years (range 2 to 3). In about 10% of cases, tumours with this molecular phenotype but lacking the C19mc amplification may be seen ("mc embryonal tumour with multilayered rosettes, non-c19mc-altered"). These tumours often harbor mutations in DICER1, typically with the first hit in the germline."

DanielAmsel commented 2 years ago

C19MC: 100kb long --> should be done with 850k https://academic.oup.com/hmg/article/19/18/3566/2527082 "Schematic representation of the ∼100 kb long C19MC (Hg19: 54 169 933–54 265 683) mapping at human chromosome 19q13.41"