Patient characteristics of the AMS 3–4 cohort.

Patient characteristics of the AMS 3–4 cohort.</p

Hypermethylation status and clinical outcome in patients with juvenile myelomonocytic leukemia (JMML).

<p>(A) Kaplan–Meier curves represent the probability of transplantation-free survival (TFS) in the 92 patients with JMML. TFS was defined as the probability of being alive and transplantation free. Both death and transplantation were considered events. The probability of 5-year TFS in the aberrant methylation score (AMS) 0 cohort (solid line) was significantly higher than that in the AMS 1–2 (long dashed line) and AMS 3–4 cohorts (dashed line), p < 0.001. (B) Kaplan–Meier curves represent the probability of overall survival (OS) in the 92 patients with JMML. Death was considered an event. The probability of OS in both the AMS 0 (solid line) and 1–2 cohorts (long dashed line) was significantly higher than that in the AMS 3–4 cohort (dashed line), p < 0.001.</p

Profile of genetic mutations and aberrant methylation.

<p>(A) Mutation status of RAS pathway genes and secondary genes (<i>SETBP1</i> and <i>JAK3</i>) identified as gene targets. Aberrant methylation scores (AMS) in a cohort of 92 patients with juvenile myelomonocytic leukemia are summarized. A rhombus denotes a patient with Noonan syndrome-associated myeloproliferative disorder. (B) Mutations in <i>SETBP1</i> and <i>JAK3</i> were associated with a higher AMS. The mean AMS of patients with <i>SETBP1</i> and/or <i>JAK3</i> mutations was higher than that of patients without secondary mutations (p = 0.03).</p

Summary of DNA methylation in candidate genes.

<p>(A) The dot plot represents the frequencies of methylated CpG sites for each candidate gene in the 92 patients with juvenile myelomonocytic leukemia. Aberrant hypermethylation was defined as >3 standard deviations above the mean methylation level of the healthy control population. The threshold values of each gene are shown as red broken lines. (B) Kaplan–Meier plots of the patient groups, defined by aberrant methylation of the indicated genes, are shown for <i>BMP4</i>, <i>CALCA</i>, <i>CDKN2A</i>, <i>CDKN2B</i>, <i>H19</i>, and <i>RARB</i>.</p

Patient characteristics.

<p>Patient characteristics.</p

Multivariate model for transplantation-free and overall survival.

<p>Multivariate model for transplantation-free and overall survival.</p

sj-docx-1-cll-10.1177_09636897221143364 – Supplemental material for Clinical Impact of Melphalan Pharmacokinetics on Transplantation Outcomes in Children Undergoing Hematopoietic Stem Cell Transplantation

Supplemental material, sj-docx-1-cll-10.1177_09636897221143364 for Clinical Impact of Melphalan Pharmacokinetics on Transplantation Outcomes in Children Undergoing Hematopoietic Stem Cell Transplantation by Ryo Maemura, Manabu Wakamatsu, Kana Matsumoto, Hirotoshi Sakaguchi, Nao Yoshida, Asahito Hama, Taro Yoshida, Shunsuke Miwata, Hironobu Kitazawa, Kotaro Narita, Shinsuke Kataoka, Daisuke Ichikawa, Motoharu Hamada, Rieko Taniguchi, Kyogo Suzuki, Nozomu Kawashima, Eri Nishikawa, Atsushi Narita, Yusuke Okuno, Nobuhiro Nishio, Koji Kato, Seiji Kojima, Kunihiko Morita, Hideki Muramatsu and Yoshiyuki Takahashi in Cell Transplantation</p

Supplementary Figures from Integrated Molecular Characterization of the Lethal Pediatric Cancer Pancreatoblastoma

Supplementary Figures S1-S10. Supplementary Figure S1. Depths and coverages of targeted deep sequencing. Supplementary Figure S2. Sequencing coverages and numbers of mutations detected by WES. Supplementary Figure S3. Tumor subclonal populations in multiple samples from PBL001 estimated by PyClone. Supplementary Figure S4. Mutational signatures of primary and metastatic PBL. Supplementary Figure S5. SNP array-based copy number analysis of PBL. Supplementary Figure S6. Targeted deep sequencing based allele-specific copy number analysis of chromosome 11. Supplementary Figure S7. Bisulfite Sanger sequencing of ICR1 on chromosome 11p15.5. Supplementary Figure S8. Relative expression levels of IGF2 in CN-LOH-negative samples. Supplementary Figure S9. Aberrant activation of Wnt signaling pathway in PBL009. Supplementary Figure S10. Global DNA methylation profile of PBL.</p

Supplementary Tables from Integrated Molecular Characterization of the Lethal Pediatric Cancer Pancreatoblastoma

Supplementary Tables S1-S13. Supplementary Table S1. Clinical information and the summary of experiments performed on each sample. Supplementary Table S2. List of genes and regions captured for targeted deep sequencing. Supplementary Table S3. dbSNP ID list for which target baits were designed. Supplementary Table S4. Non-silent mutations detected in a validation cohort by targeted deep sequencing. Supplementary Table S5. Validated non-silent somatic mutations by PCR-based deep sequencing. Supplementary Table S6. Validated silent/non-silent somatic mutations used for clonal analysis of multiple samples from PBL001. Supplementary Table S7. Significantly hypo-/hyper-methylated gene sets in PBL compared to normal pancreas. Supplementary Table S8. Fusion genes detected by whole transcriptome sequencing in PBL. Supplementary Table S9. Genes with a significant differential expression between PBL and normal pancreatic samples. Supplementary Table S10. Significant gene set enrichment in comparison between PBL and normal pancreas. Supplementary Table S11. List of differentially expressed genes in each gene cluster identified by hierarchical clustering. Supplementary Table S12. Top 20 significantly enriched pathways in each gene cluster. Supplementary Table S13. Gene coefficients of PC1 and PC2.</p