Abstract

Toward Integrated Genomic Diagnosis in Routine Diagnostic Pathology by the World Health Organization Classification of Acute Myeloid Leukemia

Highlights

  • Introduction and Historical PerspectiveSignificant milestones and seminal discoveries during 1674-1966, by individuals who have made crucial contributions toward progress in the diagnosis of hematologic neoplasms as we understand today are depicted chronologically in Figure 1, with selected references [1,2,3,4,5,6,7,8,9,10,11]

  • Malignant lymph node tumors, which represent the solid counterpart of hematologic lymphoid neoplasms, were first studied by post-mortem examination by Thomas Hodgkin at Guy’s Hospital in London in 1832, a decade before Craigie observed his first patient with chronic leukemia in Edinburgh

  • 5B: Overall abnormal hematologic values for all patients, showing (a) Leucocytosis was present in a greater percentage of acute myeloid leukemia (AML) NPM1mut cases than in AML with recurrent genetic abnormalities (AML-RGA), AML with myelodysplasiarelated changes (AML-MRC), and AML-NOS. (b) AML-NPM1mut was characterized by anemia, leucocytosis, and thrombocytopenia

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Summary

Introduction and Historical Perspective

Significant milestones and seminal discoveries during 1674-1966, by individuals who have made crucial contributions toward progress in the diagnosis of hematologic neoplasms as we understand today are depicted chronologically in Figure 1, with selected references [1,2,3,4,5,6,7,8,9,10,11]. Bennett first reported in 1845 that the disease, which would be recognized as chronic myeloid leukemia, was due to systemic involvement of blood (and not inflammation), along with Craigie’s report of his first patient in the same journal. The second clinicopathologic report of leukemia was by Rudolph Virchow, a demonstrator of anatomy in Berlin, who, at age 24, described the unstained appearances of blood cells in the first report of a patient with chronic lymphatic leukemia. Malignant lymph node tumors (lymphomas), which represent the solid counterpart of hematologic lymphoid neoplasms, were first studied by post-mortem examination by Thomas Hodgkin at Guy’s Hospital in London in 1832, a decade before Craigie observed his first patient with chronic leukemia in Edinburgh. In 1914, Theodor Boveri hypothesized that chromosomal abnormalities caused the transition from benign to malignant. Cytogenetics was not formally incorporated to classify AML until four decades later, when the 2001 WHO classification of tumors was introduced [12]

The morphologic and subsequent immunologic era for hematologic cancers
Integrated Genomics for Acute Myeloid Leukemia Diagnosis and Classification
Age Range
De novo
Findings
Hedgehog pathway inhibitor
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