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Comparison of Genomic Profiling, Cytogenetics, and Histology in Adult and Pediatric Cases of Medulloblastoma
Author(s) -
Schober Ralf,
Holland Heidrun,
Ahnert Peter,
Fritzsch Dominik,
Xu LiXin,
Krupp Wolfgang,
Meixensberger Jürgen
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.380.4
Subject(s) - medulloblastoma , biology , pathology , ptch1 , genetics , sonic hedgehog , medicine , signal transduction
The current WHO‐classification of medulloblastoma comprises four subgroups but has been extended by recent molecular genetic findings, differentiating the adult WNT related type, the adult sonic hedgehog related type, and two pediatric types that are incompletely defined yet. We present four cases with a comparison of clinical, neuropathological, cytogenetic, and genetic data on the basis of genome wide SNP array typing of both blood and tumor cells. Both adult cases, compatible with two recently reported subtypes (WNT, SHH) and the pediatric cases exhibited several novel findings. These included constitutional de novo losses 5q21.1, 15q11.2, 17q21.31, 19p12, (pediatric medulloblastoma), 9p21.1, 19p12, 19q13.3, 21q11.2 (adult medulloblastoma) and gains 16p11.1–16p11.2, 18p11.32, Yq11.223‐Yq11.23 (pediatric medullobl.), Xp22.31 (adult medullobl.), possibly representing inherited causal events for tumor formation. Furthermore, we show evidence for somatic segmental uniparental disomy in regions 1p36, 6q16.3, 6q24.1, 14q21.2, 17p13.3 and 17q22. Histological observations, such as desmoplasia in one adult case and undifferentiated large cells in one pediatric case corresponded to reported data. Other observed features of differentiation such as Homer‐Wright rosettes, however, have to be further analyzed and correlated in molecularly defined medulloblastoma subgroup cases