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. 2022 Jun 15;13:3406. doi: 10.1038/s41467-022-30496-0

Fig. 4. Mutational burden and genomic loss of heterozygosity.

Fig. 4

a Box-and-whisker plot of genomic loss of heterozygosity (gLOH) expressed as % of genome under LOH for each sarcoma histology. gLOH only evaluable n = 4619. Dashed horizontal line (19.3%) indicates 1 standard deviation above the mean gLOH. b Box-and-whisker plot of tumor mutational burden (TMB) and signatures derived from sequencing data for each sarcoma histology, grouped by age: pediatric, adolescent, and young adult (P-AYA) versus adult (>30 years). In (a, b), the lower and upper box boundaries represent 25th and 75th percentiles, lines within boxes represent medians, whiskers extend to extreme values ≤1.5 x IQR, and points beyond whiskers are outliers. Asterisk (*) indicates significant difference (with an FDR < 0.05) using a two-tailed non-parametric Mann–Whitney U test. In all cases, P-AYA harbored significantly lower TMB. c Relationship between tumor mutational burden (TMB) and genomic loss of heterozygosity (gLOH). Vertical line (10 mut/Mb) indicates distinction between “low” and “high” TMB. Dashed horizontal line (19.3%) indicates 1 standard deviation above the mean gLOH and indicates distinction between “low” and “high” gLOH. A alveolar, MES mesenchymal, DSRCT desmoplastic small round cell tumor, ASPS alveolar soft part sarcoma, URC/EL undifferentiated round cell/Ewing-like, LGFMS/SEF low-grade fibromyxoid sarcoma/ sclerosing epithelioid fibrosarcoma, DFSP dermatofibrosarcoma protuberans, OFT ossifying fibromyxoid tumor, EM extraskeletal myxoid, GIST gastrointestinal stromal tumor, E embryonal, W/DD well/dedifferentiated, EHE epithelioid hemangioendothelioma, RMS rhabdomyosarcoma, NOS not otherwise specified, UT uterine, ESS endometrial stromal sarcoma, IMT inflammatory myofibroblastic tumor, GCTB giant cell tumor of bone, PEComa perivascular epithelioid cell tumor, MPNST malignant peripheral nerve sheath tumor, P pleomorphic, ES extraskeletal, UPS undifferentiated pleomorphic sarcoma, MFH malignant fibrous histiocytoma. Source data are provided as a Source Data file.