Hetal D. Marble

ORCID: 0000-0001-8203-0622
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About
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Research Areas
  • Congenital Anomalies and Fetal Surgery
  • Renal and related cancers
  • Lung Cancer Research Studies
  • Cancer Genomics and Diagnostics
  • SARS-CoV-2 and COVID-19 Research
  • Cancer Diagnosis and Treatment
  • SARS-CoV-2 detection and testing
  • Lung Cancer Treatments and Mutations
  • Radiomics and Machine Learning in Medical Imaging
  • Cell Image Analysis Techniques
  • AI in cancer detection
  • Cancer therapeutics and mechanisms
  • Eosinophilic Disorders and Syndromes
  • Tumors and Oncological Cases
  • Cancer Research and Treatments
  • Cancer Mechanisms and Therapy
  • COVID-19 Clinical Research Studies
  • Glioma Diagnosis and Treatment
  • Chemical Reactions and Isotopes
  • Viral gastroenteritis research and epidemiology
  • Chronic Myeloid Leukemia Treatments
  • Genetic factors in colorectal cancer
  • Single-cell and spatial transcriptomics
  • CNS Lymphoma Diagnosis and Treatment
  • RNA modifications and cancer

Harvard University
2020-2023

Massachusetts General Hospital
2020-2023

Quanterix (United States)
2022

Brown University
2014-2017

Abstract Purpose: Most ALK-positive lung cancers will develop ALK-independent resistance after treatment with next-generation ALK inhibitors. MET amplification has been described in patients progressing on inhibitors, but frequency of this event not comprehensively assessed. Experimental Design: We performed FISH and/or sequencing 207 posttreatment tissue (n = 101) or plasma 106) specimens from cancer to detect genetic alterations. evaluated inhibitor sensitivity cell lines alterations and...

10.1158/1078-0432.ccr-19-3906 article EN Clinical Cancer Research 2020-02-21

The diagnosis of COVID-19 requires integration clinical and laboratory data. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) diagnostic assays play a central role in have fixed technical performance metrics. Interpretation becomes challenging because the sensitivity changes as virus clears immune response emerges. Our goal was to examine two most common SARS-CoV-2 test modalities, polymerase chain reaction (PCR) serology, over disease course provide insight into their...

10.1096/fj.202001700rr article EN cc-by-nc The FASEB Journal 2020-08-28

Myelofibrosis (MF) is a clonal stem cell neoplasm characterized by abnormal JAK-STAT signaling, chronic inflammation, cytopenias, and risk of transformation to acute leukemia. Despite improvements in the therapeutic options for patients with MF, allogeneic hematopoietic transplantation remains only curative treatment. We previously demonstrated multiple immunosuppressive mechanisms including increased expression programmed death protein 1 (PD-1) on T cells compared healthy controls....

10.1182/bloodadvances.2021005491 article EN cc-by-nc-nd Blood Advances 2021-09-28

Cancer is partly a developmental disease, with malignancies named based on cell or tissue of origin. However, systematic atlas tumor origins lacking. Here we map the single-cell organogenesis 56 trajectories to transcriptomes over 10,000 tumors across 33 cancer types. We deconvolute into signals for individual trajectories. Using these as inputs, construct multilayer perceptron (D-MLP) classifier that outputs D-MLP (ROC-AUC: 0.974 top prediction) outperforms benchmark classifiers. analyze...

10.1158/2159-8290.cd-21-1443 article EN cc-by-nc-nd Cancer Discovery 2022-08-30

Unlocking the full potential of pathology data by gaining computational access to histological pixel and metadata (digital pathology) is one key promises pathology. Despite scientific progress several regulatory approvals for primary diagnosis using whole-slide imaging, true clinical adoption at scale slower than anticipated. In U.S., advances in digital are often siloed pursuits individual stakeholders, our knowledge, there has not been a systematic approach advance field through science...

10.4103/jpi.jpi_27_20 article EN cc-by-nc-sa Journal of Pathology Informatics 2020-01-01

Validating artificial intelligence algorithms for clinical use in medical images is a challenging endeavor due to lack of standard reference data (ground truth). This topic typically occupies small portion the discussion research papers since most efforts are focused on developing novel algorithms. In this work, we present collaboration create validation dataset pathologist annotations that process whole slide images. We focus collection and evaluation algorithm performance context...

10.4103/jpi.jpi_83_20 article EN cc-by-nc-sa Journal of Pathology Informatics 2021-01-01

Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from more aggressive adenosquamous (ASC) not straightforward. To assess relevance MAML2, we examined our 5-year experience prospective testing 8106 solid tumors using RNA-seq panel combinations with a two-round Delphi-based scenario survey. prevalence...

10.3390/ijms23084322 article EN International Journal of Molecular Sciences 2022-04-13

Abstract Introduction Mesenchymal stem cells have been increasingly used for cell-based therapies. Adipose-derived stem/stromal (ASCs) from the stromal vascular fraction (SVF) of fat tissue are a particularly attractive option cell based therapy given their accessibility and relative abundance. However, application in both clinical basic science investigations is complicated by isolation differentiable within SVF. Current enrichment strategies, such as monolayer passaging surface...

10.1186/scrt502 article EN cc-by Stem Cell Research & Therapy 2014-10-06

Developing and deploying new diagnostic tests are difficult, but the need to do so in response a rapidly emerging pandemic such as COVID-19 is crucially important. During pandemic, laboratories play key role helping healthcare providers public health authorities detect active infection, task most commonly achieved using nucleic acid-based assays. While landscape of diagnostics evolving, PCR remains gold-standard assays, part due its reliability, flexibility wide deployment. To address...

10.1136/jclinpath-2020-207128 article EN cc-by-nc Journal of Clinical Pathology 2021-05-28

Acute myeloid leukemia (AML) with t(4;12)(q12;p13) translocation is rare and often associated an aggressive clinical course poor prognosis. Previous reports based on fluorescence in situ hybridization (FISH) analysis have suggested that ETV6::PDGFRA fusions are present these patients, despite the absence of eosinophilia, which typically found other hematopoietic malignancies PDGFRA-containing fusions. We first detected ETV6-SCFD2 fusion by targeted RNA sequencing a patient who had been...

10.1182/bloodadvances.2021005280 article EN cc-by-nc-nd Blood Advances 2021-09-29

e16686 Background: Genetic alterations in the FGFR pathway are emerging as promising therapeutic targets CCA. The clinical and molecular features of patients (pts) with CCA harboring genetic reported here. Methods: A retrospective chart review was performed pts who were found to have an alteration on tumor profiling part routine care between 9/2007 12/2019. Data demographics, risk factors, pathology, characteristics, systemic therapies, radiographical response, time treatment, overall...

10.1200/jco.2020.38.15_suppl.e16686 article EN Journal of Clinical Oncology 2020-05-20

Gene expression is used extensively to describe cellular characteristics and behaviors; however, most methods of assessing gene are unsuitable for living samples, requiring destructive processes such as fixation or lysis. Recently, molecular beacons have become a viable tool live-cell imaging mRNA molecules in situ. Historically, beacon-mediated has been limited fluorescence-based approaches. We propose the design synthesis novel beacon magnetic resonance detection any desired target...

10.1021/acs.bioconjchem.7b00671 article EN Bioconjugate Chemistry 2017-12-23

Abstract Introduction The diagnosis of COVID-19 requires integration clinical and laboratory data. SARS-CoV-2 diagnostic assays play a central role in have fixed technical performance metrics. Interpretation becomes challenging because the sensitivity changes as virus clears immune response emerges. Our goal was to examine two most common test modalities, polymerase chain reaction (PCR) serology, over disease course provide insight into their interpretation patients presenting hospital....

10.1101/2020.06.19.20135723 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2020-06-20

ABSTRACT Developing and deploying new diagnostic tests is difficult, but the need to do so in response a rapidly emerging pandemic such as COVID-19 crucially important for an effective response. In early stages of pandemic, laboratories play key role helping health care providers public authorities detect active infection, task most commonly achieved using nucleic acid-based assays. While landscape diagnostics evolving, polymerase chain reaction (PCR) remains gold-standard assays, part due...

10.1101/2020.08.26.20157297 preprint EN cc-by-nc medRxiv (Cold Spring Harbor Laboratory) 2020-09-01

Abstract Background The potential usefulness of plasma phosphorylated tau (pTau) measurements for identifying individuals likely to be on the Alzheimer’s disease (AD) continuum is evident from recent literature. Here we report validation an immunoassay measurement pTau181 in human that will aid evaluation pathology cases presenting with mild cognitive impairment. Method Simoa pTau‐181 assay a fully automated 2‐step digital sandwich utilizes paramagnetic beads capture antibodies and...

10.1002/alz.069375 article EN Alzheimer s & Dementia 2022-12-01

Abstract Cancer is a disease manifesting in abrogation of developmental programs, and malignancies are named based on their cell or tissue origin. However, systematic atlas tumor origins lacking. Here we map the single organogenesis 56 trajectories to transcriptomes over 10,000 tumors across 33 cancer types. We use this deconvolute individual into constituent trajectories. Based these deconvoluted construct Developmental Multilayer Perceptron (D-MLP) classifier that outputs The D-MLP...

10.1101/2021.11.15.21266314 preprint EN cc-by-nc medRxiv (Cold Spring Harbor Laboratory) 2021-11-20
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