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Biology subjects

Lippman, S. M.

Publications and source records attributed to Lippman, S. M..

5 recordsLinked to original sources

KaryoCreate: a new CRISPR-based technology to generate chromosome-specific aneuploidy by targeting human centromeres

Aneuploidy, the presence of chromosome gains or losses, is a hallmark of cancer and congenital syndromes. Here, we describe KaryoCreate (Karyotype CRISPR Engineered Aneuploidy Technology), a system that enables generation of chromosome-specific aneuploidies by co-expression of a sgRNA targeting chromosome-specific CENPA-binding [a]-satellite repeats together with dCas9 fused to a mutant form of KNL1. We designed unique and highly specific sgRNAs for 19 out of 24 chromosomes. Expression of these sgRNAs with KNL1Mut-dCas9 leads to missegregation and induction of gains or losses of the targeted chromosome in cellular progeny with an average efficiency of 8% and 12% for gains and losses, respectively (up to 20%), tested and validated across 9 chromosomes. Using KaryoCreate in colon epithelial cells, we show that chromosome 18q loss, a frequent occurrence in gastrointestinal cancers, promotes resistance to TGF{beta}, likely due to synergistic hemizygous deletion of multiple genes. Altogether, we describe a novel technology to create and study chromosome missegregation and aneuploidy in the context of cancer and beyond. HighlightsO_LIWe designed sgRNAs targeting chromosome-specific centromeres across 19 human chromosomes C_LIO_LIKaryoCreate combines chromosome-specific centromeric sgRNAs with dCas9 fused to a mutant form of KNL1. C_LIO_LIKaryoCreate allows engineering gains and losses of specific human chromosomes. C_LIO_LIEngineered Chromosome 18q loss promotes tumor-associated phenotypes in colon-derived cells. C_LIO_LIKaryoCreate is a CRISPR-based technology to foster the study of centromere biology and aneuploidy. C_LI

cell biology↗

Extrachromosomal DNA in the cancerous transformation of Barrett's esophagus

BACKGROUNDOncogenes are commonly amplified on extrachromosomal DNA (ecDNA) contributing to poor outcomes for patients. Currently, the chronology of ecDNA development is not known. We studied the origination and evolution of ecDNA in patients with Barretts esophagus (BE) who progressed to esophageal adenocarcinoma (EAC). METHODSWe analyzed whole-genome sequencing (WGS) data from a BE surveillance cohort and EAC patients at Cambridge University UK (n=206 patients). We also analyzed WGS data from biopsies taken at two time points from multiple sites in the esophagus from 80 patients enrolled in a case-control study at the Fred Hutchinson Cancer Center (FHCC) - 40 BE patients who progressed to EAC and 40 who did not. RESULTSecDNA was detected in 24% and 43% of BE patients with BE-associated early and late-stage EAC, respectively, in the Cambridge cross-sectional cohort. ecDNA was found in 33% of all FHCC BE patients who developed cancer, either prior to, or at EAC diagnosis. ecDNA was strongly associated with patients who developed cancer, in contrast with FHCC BE patients who did not progress (odds ratio, 18.8, CI - 2.3-152, p=3.3x10-4). ecDNAs were enriched for oncogenes and immunomodulatory genes and could be detected early in the transition from high-grade dysplasia to cancer and increased in copy number and complexity over time. CONCLUSIONSecDNAs can develop before a diagnosis of cancer in BE patients and are strongly selected for during the evolution to EAC. ecDNAs promote diverse oncogene and immunomodulatory gene amplification during EAC development and progression.

genomics↗

AI-assisted Discovery of an Ethnicity-influenced Driver of Cell Transformation in Esophageal and Gastroesophageal Junction Adenocarcinomas

Although Barretts metaplasia of the esophagus (BE) is the only known precursor lesion to esophageal adenocarcinomas (EACs), drivers of the metaplasia[->]dysplasia[->]neoplasia cascade in the esophagus remains incompletely understood. Using an AI-guided network transcriptomics approach, in which EAC initiation and progression is modeled as networks to simplify complex multi-cellular processes, we first predict cellular continuum states and disease driving processes with an unprecedented degree of precision. Key AI-guided predictions are subsequently validated in a human organoid model and patient-derived biopsies of BE, a case-control study of genomics of BE progression, and in a cross-sectional study of 113 patients with BE and EACs. We find that all EACs must originate from BE, pinpoint a CXCL8/IL8{leftrightarrow}neutrophil immune microenvironment as a driver of cellular transformation in both EACs and gastroesophageal junction-ACs. This driver is prominent in Caucasians (Cau), but notably absent in African Americans (AAs). Network-derived gene signatures, independent signatures of neutrophil processes, CXCL8/IL8, and an absolute neutrophil count (ANC) are associated with risk of progression. SNPs associated with ethnic changes in ANC modify that risk. Thus, findings define a racially influenced immunological basis for cell transformation and suggest that benign ethnic neutropenia in AAs may serve as a deterrent to BE[->]EAC progression. BRIEF SUMMARYEsophageal adenocarcinoma (EAC) is a highly lethal cancer among Caucasians, while African Americans are somewhat protected; what factors drive transformation with racial disparity remain unknown. AI-enabled creation of the first computational map of neoplastic progression in the esophagus built and validated using transcriptomic datasets from diverse cohorts of human samples pinpointed CXCL8{leftrightarrow}neutrophil tumor immune-microenvironment as a racially influenced driver of EACs and GEJ-ACs. Computational tools pinpoint a racially influenced driver of cell transformation during BE[->]EAC progression; in doing so, it reveals new novel biology, informs disease modeling, therapeutic strategies, and biomarkers. LAY SUMMARYBy modeling diseases as networks, this work unravels a fundamental race-influenced immunologic driver of cell transformation in adenocarcinomas of the esophagus and the gastroesophageal junction.

cancer biology↗

A Model-Based Cost-Effectiveness Analysis of an Exercise Program for Lung Cancer Survivors Following Curative-Intent Treatment

RationaleThe Institute of Medicine emphasizes care in the post-treatment phase of the cancer survivorship continuum. Physical exercise has been shown to be effective in improving physical function and quality of life in cancer survivors; however, its cost-effectiveness in lung cancer survivors is not well established. ObjectiveWe performed a model-based cost-effectiveness analysis of an exercise intervention in lung cancer survivors following curative-intent treatment. MethodsWe constructed a Markov model to simulate the impact of the Lifestyle Interventions and Independence for Elders (LIFE) exercise intervention compared to usual care for stage I-IIIA lung cancer survivors. Costs and utility benefit of exercise were extracted from the LIFE study. Baseline utilities, transition probabilities, and survival were modeled. We calculated and considered incremental cost-effectiveness ratios (ICERs) <$100,000/quality-adjusted life-year (QALY) as cost-effective, and assessed model uncertainty using one-way and probabilistic sensitivity analyses. ResultsOur base-case model found that the LIFE exercise program would increase overall cost by $4,740 and effectiveness by 0.06 QALYs compared to usual care, and have an ICER of $79,504/QALY. The model was most sensitive to the cost of the exercise program, probability of increasing exercise, and utility benefit related to exercise. At a willingness-to-pay threshold of $100,000/QALY, the LIFE exercise program had a 71% probability of being cost-effective compared to 27% for usual care. When we included opportunity costs, the LIFE exercise program had an ICER of $179,774/QALY, exceeding the cost-effectiveness threshold. ConclusionsA simulation of the LIFE exercise program in lung cancer survivors following curative-intent treatment demonstrates cost-effectiveness from an organization but not societal perspective. Strategies to effectively increase exercise remotely may be more cost-effective than in-facility strategies for these patients.

epidemiology↗

Effects of Curative-Intent Lung Cancer Therapy on Functional Exercise Capacity and Patient-Reported Outcomes

BackgroundLung cancer treatment can lead to negative health consequences. We analyzed the effects of curative-intent lung cancer treatment on functional exercise capacity (EC) and patient-reported outcomes (PROs).\n\nMethodsWe performed a prospective-observational cohort study of consecutive patients with stage I-IIIA lung cancer undergoing curative-intent therapy and assessed functional EC [primary outcome, six-minute walk distance (6MWD)], cancer-specific quality of life (QoL) [secondary outcome, European Organization for Research and Treatment of Cancer QoL Questionnaire Core 30 (EORTC-QLQ-C30) summary score], and exploratory outcomes including dyspnea [University of California San Diego Shortness of Breath Questionnaire (UCSD-SOBQ)] and fatigue [Brief Fatigue Inventory (BFI)] symptoms before and at 1 to 3 months post-treatment. We analyzed the time effect of treatment on outcomes using multivariable generalized estimating equations.\n\nResultsIn 35 enrolled participants, treatment was borderline-significantly associated with a clinically-meaningful decline in functional EC [(mean change, 95% CI) 6MWD = -25.4m (-55.3, +4.47), p=0.10], non-significant change in cancer-specific QoL [EORTC-QLQ-C30 summary score = - 3.4 (-9.8, +3.0), p=0.30], and statistically-significant and clinically-meaningful higher dyspnea [UCSD-SOBQ = +13.1 (+5.7, +20.6), p=0.001] and increased fatigue [BFI = +10.0 (+2.9, +17.0), p=0.006].\n\nConclusionsAmong the first prospective analysis of the effect of curative-intent lung cancer treatment on functional EC and PROs, we observed worsening dyspnea and fatigue, and possibly a decline in functional EC but not cancer-specific QoL at 1 to 3 months post-treatment. Interventions to reduce treatment-related morbidities and improve lung cancer survivorship may need to focus on reducing dyspnea, fatigue, and/or improving functional EC.\n\nConsent and ApprovalWritten informed consent was obtained from each participant included in this study. All human investigations were performed after approval by the VA San Diego Healthcare System institutional review board and in accord with an assurance filed with and approved by the U.S. Department of Health and Human Services.

epidemiology↗