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71We characterized two reference samples for NGS technologies: a human triple-negative 72 breast cancer cell line and a matched normal cell line. Leveraging several whole-genome 73 sequencing (WGS) platforms, multiple sequencing replicates, and orthogonal mutation 74 detection bioinformatics pipelines, we minimized the potential biases from sequencing 75 technologies, assays, and informatics. Thus, our "truth sets" were defined using evidence from 76 21 repeats of WGS runs with coverages ranging from 50X to 100X (a total of 140 billion reads). 77These "truth sets" present many relevant variants/mutations including 193 COSMIC mutations 78 and 9,016 germline variants from the ClinVar database, nonsense mutations in BRCA1/2 and 79 missense mutations in TP53 and FGFR1. Independent validation in three orthogonal 80 experiments demonstrated a successful stress test of the truth set. We expect these reference 81 materials and "truth sets" to facilitate assay development, qualification, validation, and 82 proficiency testing. In addition, our methods can be extended to establish new fully 83 characterized reference samples for the community. 84 85 86

Background:The prognostic value of additional copies of chromosome 1q (1q gain/ amplification [amp]) in multiple myeloma (MM) remains controversial. In the meantime, the kinetics of the response to MM therapy has long been an area of debate. Few studies have pointed out the relationship of response kinetics with cytogenetic abnormalities (CAs) in MM. Methods:The authors retrospectively analyzed the data of 1068 real-world newly diagnosed MM patients from a Chinese national medical center. Results: Overall, 405 (51.9%) patients had 1q gain/amp, with aggressive clinical characteristics and significant inferior survival. The variation in copy number (CN) of 1q (CN = 3 or CN >3) had no significant impact on the survival of MM patients with 1q abnormalities. No difference was found in the outcome of 1q gain/amp patients treated with doublet or triplet regimens. Upfront autologous stem cell transplantation could eliminate the adverse prognostic effect of 1q gain but not 1q amp. The duration from diagnosis to the first time achieving very good partial response (VGPR) or better was significantly shorter in patients with 1q gain/amp (77 days vs. 100 days, p = .001). Finally, multifactor regression analysis was performed to construct a new risk stratification model in MM patients with 1q gain/amp, which was validated in the Multiple Myeloma Research Foundation CoMMpass study cohort and worked better than the Revised International Staging System and Second Revision of the International Staging System (Harrell's concordance index: 0.631 vs. 0.598 and 0.537). Conclusions:In the setting of novel therapy, 1q gain/amp still acts as an independent adverse prognostic factor. Patients with 1q gain/amp achieved VGPR rapidly but had inferior survival.

Rationale:Transforaminal lumbar interbody fusion (TLIF) is an effective treatment for patients with degenerative lumbar disc disorder. Contralateral radiculopathy, as a complication of TLIF, has been recognized in this institution, but is rarely reported in the literature.Patient concerns:In this article, we report 2 cases of contralateral radiculopathy after TLIF in our institution and its associated complications.Diagnoses:In the 2 cases, the postoperative computed tomography (CT) and magnetic resonance image (MRI) showed obvious upward movement of the superior articular process, leading to contralateral foraminal stenosis.Interventions:Revision surgery was done at once to partially resect the opposite superior facet and to relieve nerve root compression.Outcomes:After revision surgery, the contralateral radiculopathy disappeared.Lessons:Contralateral radiculopathy is an avoidable potential complication. It is very important to create careful preoperative plans and to conscientiously plan the use of intraoperative techniques. In case of postoperative contralateral leg pain, the patients should be examined by CT and MRI. If CT and MRI show that the superior articular process significantly migrated upwards, which leads to contralateral foraminal stenosis, revision surgery should be done at once to partially resect the contralateral superior facet so as to relieve nerve root compression and avoid possible long-term impairment.