History of Leukemia: Historical Perspectives Paul S

Cambridge University Press 978-0-521-19661-1 - Childhood Leukemias: Third Edition Edited by Ching-Hon Pui Excerpt More information Section 1 History and general issues Chapter1 History of leukemia: historical perspectives Paul S. Gaynon, Toska J. Zomorodian, and Donald Pinkel Introduction Recent clinical advances in Philadelphia chromosome-positive ALL11 and chronic myelogenous leukemia (CML)12 hint at the The best way to study variable human disease in variable human beings isto thrilling promise of coming decades. study variable human disease in variable human beings. This chapter focuses on the history of those leukemias that Philip Schein and Barbara Scheffler (paraphrase)1 affect young people, namely ALL, a predominately pediatric disease; AML, a disease that affects more adults than children; and The last half century has witnessed striking progress in the treat- CML, which is found in young people only rarely. ment of childhood leukemia, largely by empiric manipulation of a rather limited chemotherapeutic armamentarium through well-designed clinical studies.2 Approximately 50 years ago, the Emerging appreciation of leukemia biology first attempts to cure this dread disease were dismissed as futile Current understanding of the molecular biology of leukemia is and even cruel in providing unrealistic hopes to desperate fam- provided in Chs. 7 and 8.Theobjecthereistotraceitsdevelop- ilies. However, improved supportive care has allowed patients ment over time. to survive through periods of perilous pancytopenia, induced While the first written description of cancer may be traced by the disease and its treatment, and cure has become routine, back to Egypt in about 1600 BC, the first report of a patient with albeit not universal, in economically privileged countries. Out- leukemia appeared only in 1827, about three and a half mil- comes remain poor for relapsed patients and for those in eco- lennia later (Table 1.1).13 Examination of blood cells was not nomically underprivileged countries where treatment may not possible until the advent of the compound microscope (1665– be accessible.3 1673) by Robert Hooke and especially by Anton van Leeuwen- Appreciation of the biology of leukemia has advanced from hoeck.13 Jan Swammerdam and Joseph Lieutaud were the first clinical descriptions, through cytomorphology and histochem- to describe red cells and white cells, in 1668 and 1749, respec- istry, to molecular genetics. The pace has quickened percep- tively.13 About 20 years later, William Hewson described the tively since the start of the twenty-first century. Genetic studies, lymphocyte and the lymphatic system.13 In 1845, the category at first focused on the single most visually obvious chromo- of illnesses now called leukemia was linked to white blood cells somal abnormality by karyotype, are now expanded to genome- in three independent reports by Rudolf Virchow (Fig. 1.1), John wide analyses4,5 and beyond genomics to epigenomics. We are Hughes Bennett, and David Craigie.13 Virchow coined the term moving from a descriptive catalogue of genetic abnormalities to “leukemia” in 1847.13,28 A French physician, Alfred Donne,´ had an appreciation of cooperating functional aberrations affecting already described patients with exceedingly high white blood differentiation, apoptosis, and proliferation. We not only divide counts with maturation arrest and differentiated them from leukemia into major clinical/cytomorphologic subsets such as purulence in his 1844 textbook, Cours de Microscopie compli- acute and chronic, lymphoid and myeloid but also recognize the mentaire des Etudes medicales´ . His textbook presented observa- tremendous heterogeneity within each subset. Patients sharing tions he had made in extant correspondence 6 years earlier.29 a genetic abnormality, such as t(1;19), may have differing asso- However, credit for the first report of leukemia may best belong ciated abnormalities. Emerging evidence demonstrates oligo- to a second Frenchman, Alfred Velpeau, in 1827.14 clonality and the consequences of clonal evolution.6,7 Some HenryFullerwasthefirsttodiagnoseleukemiabymicro- investigators feel that the limits of indiscriminate intensifica- scopic examination of the blood in a living patient.13 In 1850, tion of therapy have been reached. However, improved event- he described the first reported case of childhood leukemia, in a free survival with intensified anthracycline treatment in acute 9-year-old girl. In a series of investigations, published in 1856, myeloid leukemia (AML)8,9 and with “augmented” postinduc- Virchow13 distinguished leukemia from leukocytosis and pro- tion intensification in acute lymphoblastic leukemia (ALL)10 posed his theory of its cellular origins – still fundamental to our suggests that our bag of tricks is not yet completely empty. understanding of the disease today. In 1868, Ernst Neumann Childhood Leukemias, 3rd edn, ed. Ching-Hon Pui. Published by Cambridge University Press. C Cambridge University Press 2012. 1 © in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-0-521-19661-1 - Childhood Leukemias: Third Edition Edited by Ching-Hon Pui Excerpt More information Section 1: History and general issues Table 1.1. Evolving insights and technology Fig. 1.1. Rudolf Virchow, the father of 1600 BC First written description of cancer leukemia research, ∼1670 Examination of the blood with the compound microscope established leukemia as a medical entity in the 14 1827 First clinical description of leukemia by Velpeau years 1845 and 1856. 1847 Term “leukemia” coined by Virchow15 1872 Neumann concluded that leukemia is a disease of the bone marrow 1877 Ehrlich introduced histochemical staining16 1913 Acute and chronic, lymphoid and myeloid leukemias 1914 Boveri proposed that leukemia arises from a single cell through chromosomal changes17 1934 Flow cytometry18 ∼1960 Metaphase cytogenetics; Nowell and Hungerford describe the Philadelphia chromosome19 1975 Monoclonal antibodies20 1978 Host polymorphisms (thiopurine methyltransferase)21 1980 Fluorescent in situ hybridization22 1985 Polymerase chain reaction23 1996 Gene expression arrays24 1997 Comparative genomic hybridization25 1998 Minimal residual disease by the polymerase chain reaction26,27 fluorescence in situ hybridization and the polymerase chain reaction (PCR) later supplemented karyotyping and identified first reported the bone marrow changes in leukemia and by abnormalities in the leukemia cells of an increasing majority 1872 concluded that leukemia was a disease of the bone marrow, of patients. Conventionally, patients are classified by the most but 20 years passed before his observations found widespread visually obvious chromosomal abnormality. However, we now acceptance.13,28 At the time, many believed that bone was a know that most patients with leukemia harbor multiple genetic solid, impenetrable substance and could not accept that blood abnormalities with losses outnumbering gains of genetic mate- cells might move back and forth between the marrow and the rial.4 Epigenetic changes complement genetic changes. Event- peripheral blood. In 1876, Friedrich Mosler introduced the free survival varies not only among cytogenetic subsets but also antemortem bone marrow puncture.13,28 within each subset. Patients sharing a single abnormality such Introduction of histochemical staining methods by the as t(1;19) may have differing associated abnormalities. The word medical student and Nobel Laureate Paul Ehrlich in 1877 “associated” is chosen rather than “secondary” because which allowed discrimination among leukocyte subsets. Ehrlich first abnormalities are more important than others remains to be identified a primitive cell, which he described as the ancestor elucidated. A single patient may harbor a variety of subclones of the various hematopoietic lineages. Leukemic marrow with overlapping but distinct, evolutionarily linked constella- involvement was noted in the absence of peripheral blood tions of cooperating abnormalities.32 The predominating clone involvement – so-called aleukemic leukemia.16 The observa- at relapse may differ from the predominant clone at diagnosis, tion that specific dyes affected specific cell types differently but being a direct descendant or sharing a common ancestor. reproducibly gave rise to the notion that chemicals might also Flow cytometric studies examined DNA content and cell have differential effects on different types of cell and serve as membrane expression of lineage-associated membrane and treatment. In 1900, Otto Nageli¨ identified the myeloblast and cytoplasmic proteins, starting in the mid 1970s. Typical child- the lymphoblast. By 1913, leukemia was classified as ALL, AML, hood early pre-B-ALL may be distinguished from pro-B- chronic lymphocytic leukemia (CLL), and CML.13,28 ALL, typically seen in infants, and T-cell ALL, typically In 1914, Theodor Boveri suggested that cancer might arise seen in older boys. Leukemias harboring translocation t(8;14) from a single cell with genetic instability leading to chromo- (q11;q32) and associated translocations display a mature B-cell somal changes, some too small to be seen by microscopy and immunophenotype. unresponsiveness to external growth regulation.17 Two World Initial response to remission-induction treatment emerged Wars and a Great Depression intervened. as a consistent prognostic factor. Leukemia at levels too low Metaphase cytogenetics appeared in the early 1960s. Bet- for microscopic recognition is termed minimal

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