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spell out etmr first instance
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jharenza committed Mar 28, 2023
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Expand Up @@ -35,7 +35,7 @@ Since CBTN specimen collection began in 2011 before molecular data were integrat
Moreover, PBTA does not yet feature methylation arrays which are increasingly used to inform molecular subtyping and cancer diagnosis.
Therefore, we created analysis modules to systematically consider key genomic features of tumors described by the WHO in 2016 or Ryall and colleagues [@doi:10.1016/j.ccell.2020.03.011].
Coupled with clinician and pathologist review, we generated research-grade integrated diagnoses for 60% (644/1074) of tumors with high confidence (**Table S1**) without methylation data, representing a major innovation of this project. <!--SAMPLECOUNT-->
This allowed us to align OpenPBTA specimen diagnoses with WHO classifications (e.g., tumors formerly ascribed primitive neuro-ectodermal tumor [PNET] diagnoses), discover rarer tumor entities (e.g., H3-mutant ependymoma, meningioma with _YAP1::FAM118B_ fusion), as well as identify and correct data entry errors (e.g., an ETMR incorrectly entered as a medulloblastoma) and histologically mis-identified specimens (e.g., Ewing sarcoma sample labeled as a craniopharyngioma).
This allowed us to align OpenPBTA specimen diagnoses with WHO classifications (e.g., tumors formerly ascribed primitive neuro-ectodermal tumor [PNET] diagnoses), discover rarer tumor entities (e.g., H3-mutant ependymoma, meningioma with _YAP1::FAM118B_ fusion), as well as identify and correct data entry errors (e.g., an embryonal tumor with multilayer rosettes (ETMR) incorrectly entered as a medulloblastoma) and histologically mis-identified specimens (e.g., Ewing sarcoma sample labeled as a craniopharyngioma).
Uniquely, we used transcriptomic classification to subtype 122 medulloblastomas into SHH, WNT, Group 3, or Group 4 with `MedulloClassifier` [@doi:10.1371/journal.pcbi.1008263] and `MM2S` [@doi:10.1186/s13029-016-0053-y], with 95% (41/43) and 91% (39/43) accuracy, respectively.

**Table {@tbl:Table1}** lists the number of tumors subtyped within OpenPBTA, comprising low-grade gliomas (LGGs) (N = 290), HGGs (N = 141), embryonal tumors (N = 126), ependymomas (N = 33), tumors of sellar region (N = 27), mesenchymal non-meningothelial tumors (N = 11), glialneuronal tumors (N = 10), and chordomas (N = 6), where Ns represent unique tumors. <!--SAMPLECOUNT-->
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