About

Dr. Daniel A. Arber is the Donald West and Mary Elizabeth King Professor and Chair of the Department of Pathology at the University of Chicago. His department has a long and rich history of excellence in clinical service, training, and research, with faculty who are experts in subspecialties including anatomic pathology, laboratory medicine, genomics and molecular pathology, investigational pathology, and immunology. The department emphasizes a diverse academic community engaged in scientific endeavors ranging from basic science to translational and clinical research. Dr. Arber's leadership supports the department's commitment to fostering diversity, equity, and inclusion within the university and the patient populations served on the South Side of Chicago. The department also focuses on educational programs at the Pritzker School of Medicine and the Basic Sciences Division, training the next generation of clinicians and scholars involved in cutting-edge research and clinical subspecialty practices.

Research topics

• Biology
• Medicine
• Bioinformatics
• Internal medicine
• Genetics
• Computational biology
• Gastroenterology
• Family medicine
• Cancer research
• Immunology
• Oncology
• Pathology
• Intensive care medicine

Selected publications

• <i>TP53</i> mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML

  Blood Advances · 2022 · 186 citations

  • Internal medicine
  • Medicine
  • Oncology

  A subset of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) show complex karyotype (CK), and these cases include a relatively high proportion of cases of therapy-related myeloid neoplasms and TP53 mutations. We aimed to evaluate the clinicopathologic features of outcome of 299 AML and MDS patients with CK collected from multiple academic institutions. Mutations were present in 287 patients (96%), and the most common mutation detected was in TP53 gene (247, 83%). A higher frequency of TP53 mutations was present in therapy-related cases (P = .008), with a trend for worse overall survival (OS) in therapy-related patients as compared with de novo disease (P = .08) and within the therapy-related group; the presence of TP53 mutation strongly predicted for worse outcome (P = .0017). However, there was no difference in survival between CK patients based on categorization of AML vs MDS (P = .96) or presence of absence of circulating blasts ≥1% (P = .52). TP53-mutated patients presented with older age (P = .06) and lower hemoglobin levels (P = .004) and marrow blast counts (P = .02) compared with those with CK lacking TP53 mutation. Multivariable analysis identified presence of multihit TP53 mutation as strongest predictor of worse outcome, whereas neither a diagnosis of AML vs MDS nor therapy-relatedness independently influenced OS. Our findings suggest that among patients with MDS and AML, the presence of TP53 mutation (in particular multihit TP53 mutation) in the context of CK identifies a homogeneously aggressive disease, irrespective of the blast count at presentation or therapy-relatedness. The current classification of these cases into different disease categories artificially separates a single biologic disease entity.

  DOI

• Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

  Blood · 2022 · 205 citations

  • Biology
  • Computational biology
  • Genetics

  Myeloid neoplasms and acute leukemias derive from the clonal expansion of hematopoietic cells driven by somatic gene mutations. Although assessment of morphology plays a crucial role in the diagnostic evaluation of patients with these malignancies, genomic characterization has become increasingly important for accurate diagnosis, risk assessment, and therapeutic decision making. Conventional cytogenetics, a comprehensive and unbiased method for assessing chromosomal abnormalities, has been the mainstay of genomic testing over the past several decades and remains relevant today. However, more recent advances in sequencing technology have increased our ability to detect somatic mutations through the use of targeted gene panels, whole-exome sequencing, whole-genome sequencing, and whole-transcriptome sequencing or RNA sequencing. In patients with myeloid neoplasms, whole-genome sequencing represents a potential replacement for both conventional cytogenetic and sequencing approaches, providing rapid and accurate comprehensive genomic profiling. DNA sequencing methods are used not only for detecting somatically acquired gene mutations but also for identifying germline gene mutations associated with inherited predisposition to hematologic neoplasms. The 2022 International Consensus Classification of myeloid neoplasms and acute leukemias makes extensive use of genomic data. The aim of this report is to help physicians and laboratorians implement genomic testing for diagnosis, risk stratification, and clinical decision making and illustrates the potential of genomic profiling for enabling personalized medicine in patients with hematologic neoplasms.

  DOI

• International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data

  Blood · 2022 · 2567 citations

  1st authorCorresponding
  • Medicine
  • Intensive care medicine
  • Bioinformatics

  The classification of myeloid neoplasms and acute leukemias was last updated in 2016 within a collaboration between the World Health Organization (WHO), the Society for Hematopathology, and the European Association for Haematopathology. This collaboration was primarily based on input from a clinical advisory committees (CACs) composed of pathologists, hematologists, oncologists, geneticists, and bioinformaticians from around the world. The recent advances in our understanding of the biology of hematologic malignancies, the experience with the use of the 2016 WHO classification in clinical practice, and the results of clinical trials have indicated the need for further revising and updating the classification. As a continuation of this CAC-based process, the authors, a group with expertise in the clinical, pathologic, and genetic aspects of these disorders, developed the International Consensus Classification (ICC) of myeloid neoplasms and acute leukemias. Using a multiparameter approach, the main objective of the consensus process was the definition of real disease entities, including the introduction of new entities and refined criteria for existing diagnostic categories, based on accumulated data. The ICC is aimed at facilitating diagnosis and prognostication of these neoplasms, improving treatment of affected patients, and allowing the design of innovative clinical trials.

  DOI

Frequent coauthors

• Lawrence M. Weiss

  151 shared

• Athena M. Cherry

  Stanford University

  123 shared

• Attilio Orazi

  Texas Tech University

  118 shared

• Uma Sundram

  111 shared

• Sabine Köhler

  105 shared

• Joanna E. Wrede

  Seattle Children's Hospital

  103 shared

• Raffaele Ciampi

  98 shared

• Marianne Berwick

  University of New Mexico

  98 shared

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