A5027331674- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Lymphoma Diagnosis and Treatment
- Hematopoietic Stem Cell Transplantation
- CAR-T cell therapy research
- Single-cell and spatial transcriptomics
- Glioma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Monoclonal and Polyclonal Antibodies Research
- Immunodeficiency and Autoimmune Disorders
- Meningioma and schwannoma management
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Chronic Myeloid Leukemia Treatments
- Pituitary Gland Disorders and Treatments
- Tuberous Sclerosis Complex Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Renal Transplantation Outcomes and Treatments
- Organ Donation and Transplantation
- Immune Cell Function and Interaction
- Multiple and Secondary Primary Cancers
- Helicobacter pylori-related gastroenterology studies
- Advanced Breast Cancer Therapies
- RNA modifications and cancer
Massachusetts General Hospital
2023-2025
Dana-Farber Cancer Institute
2019-2024
Harvard University
2016-2024
Broad Institute
2020-2024
Pontificia Universidad Católica de Chile
2023-2024
Brigham and Women's Hospital
2017-2022
Selected molecular biomarkers were incorporated into the US cancer registry reporting for patients with brain tumors beginning in 2018. We investigated completeness and validity of these variables described epidemiology molecularly defined tumor types.
PURPOSE Microsatellite instability (MSI) and DNA mismatch repair (MMR) status is an indispensable biomarker in the management of colorectal cancers. We therefore examined epidemiology MSI-high/MMR-deficient cancers United States. METHODS Adults presenting with adenocarcinoma 2018-2019 were identified from US National Cancer Database. Attributes associated MSI-high/MMR-deficiency using multivariable logistic regression reported average adjusted probabilities (% AAP ) 99.9% CIs. As a secondary...
RNA splicing factor SF3B1 is recurrently mutated in various cancers, particularly hematologic malignancies. We previously reported that coexpression of Sf3b1 mutation and Atm deletion B cells, but not either lesion alone, leads to the onset chronic lymphocytic leukemia (CLL) with CLL cells harboring chromosome amplification. However, exact role chromosomal instability (CIN) remains unclear. Here, we demonstrated promotes centromeric R-loop (cen-R-loop) accumulation, leading increased...
Freestanding emergency departments (EDs), which offer medical care at sites separate from hospitals, are a rapidly growing alternative to traditional hospital-based EDs. We evaluated state regulations of freestanding EDs and describe their effect on the EDs' location, staffing, services. As December 2015, thirty-two states collectively had 400 Twenty-one that allowed EDs, twenty-nine did not have applied specifically such (one hospital precluded them). State policies regarding varied widely,...
Abstract Chronic lymphocytic leukemia has a highly variable disease course across patients, thought to be driven by the vast inter- and intrapatient molecular heterogeneity described in several large-scale DNA-sequencing studies conducted over past decade. Although last 5 years have seen dramatic shift therapeutic landscape for chronic leukemia, including regulatory approval of potent targeted agents (ie, idelalisib, ibrutinib, venetoclax), majority patients still inevitably experience...
Abstract Chronic lymphocytic leukemia (CLL) is characterized by disordered DNA methylation, suggesting these epigenetic changes might play a critical role in disease onset and progression. The methyltransferase DNMT3A key regulator of methylation. Although somatic mutations CLL are rare, we found that low expression associated with more aggressive disease. A conditional knockout mouse model showed homozygous depletion Dnmt3a from B cells results the development 100% penetrance at median age...
Tuberous sclerosis complex (TSC) is a multisystem disease associated with hyperactive mTORC1. The impact of TSC1/2 deficiency on lysosome-mediated processes not fully understood. We report here that inhibition lysosomal function using chloroquine (CQ) upregulates cholesterol homeostasis genes in TSC2-deficient cells. This TSC2-dependent transcriptional signature increased accumulation and intracellular levels both total esters. Unexpectedly, engaging this CQ-induced uptake pathway together...
Abstract The remarkable evolutionary capacity of cancer is a major challenge to current therapeutic efforts. Fueling this evolution its vast clonal heterogeneity and ability adapt diverse selective pressures. Although the genetic transcriptional mechanisms underlying these responses have been independently evaluated, couple alterations present within individual clones their respective or functional outputs has lacking in field. To end, we developed high-complexity expressed barcode library...
Allogeneic stem cell transplantation (ALOSCT) is curative for several hematological diseases. Unrelated donors and cord blood cells are valid options but haploidentical (HAPLO) have been considered the main source of in countries, partly due to easy access low cost process. Unfortunately, some patients antibodies against HLA epitopes from family (donor-specific [DSA]) which associated with engraftment failure lethality. A few strategies exist reduce or eliminate that bind these receptors. In...
Se presenta el caso del primer trasplante hematopoyético ambulatorio autólogo realizado en nuestro país según conocimiento. Además, se hace una revisión de la literatura al respecto y concluye enumerando los requerimientos necesarios para considerar esta modalidad.
Background: Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for several hematological diseases. Prospective and retrospective studies have associated myeloablative conditioning regimens with increased non-relapse mortality less intense disease relapse, leading to similar overall survival rates.
The therapeutic landscape across many cancers has dramatically improved since the introduction of potent targeted agents and immunotherapy. Nonetheless, success these approaches is too often challenged by emergence resistance, fueled intratumoral heterogeneity immense evolutionary capacity inherent to cancers. To date, strategies have attempted outpace tempo cancer but frequently fail, resulting in lack tumor response and/or relapse. This realization motivates development novel which...
Katz, Nurit S.; Gutierrez, Catherine; Yang, Yihe; Shah, Sujal I.; McMahon, Gearoid M. Author Information
<div>Abstract<p>Chronic lymphocytic leukemia (CLL) is characterized by disordered DNA methylation, suggesting these epigenetic changes might play a critical role in disease onset and progression. The methyltransferase <i>DNMT3A</i> key regulator of methylation. Although somatic mutations CLL are rare, we found that low expression associated with more aggressive disease. A conditional knockout mouse model showed homozygous depletion <i>Dnmt3a</i> from B...
<p>Supplementary Materials and Methods Supplementary Figures S1-4</p>