Acute Leukemias - Republican Scientific Medical Library

Diagnosis of Acute Lymphoblastic Leukemia
Maher Albitar, Francis J. Giles, Hagop Kantarjian
Contents
8.1 Introduction .................... 119
8.2 Morphology .................... 120
8.3 Cytochemistry and Immunophenotyping
........................ 120
8.4 Atypical Acute Lymphoblastic
Leukemia ...................... 122
8.4.1 Burkitt-Like (Atypical Burkitt) ALL . 122
8.4.2 ALL with Eosinophilia ......... 122
8.4.3 Aplastic and Hypoplastic ALL .... 122
8.4.4 Granular ALL ............... 122
8.4.5 Hand Mirror ALL ............. 122
8.4.6 Natural Killer ALL (Blastic NK) .... 123
8.4.7 Biphenotypic and Bilineage ALL . . 123
8.4.8 MPO-Positive ALL ............ 123
8.5 Cytogenetic and Molecular
Abnormalities ................... 123
8.5.1 Hyperdiploidy ............... 124
8.5.2 Hypodiploidy ............... 124
8.5.3 Philadelphia Chromosome ...... 124
8.5.4 12p12.3 Abnormalities ......... 125
8.5.5 11q23 Abnormalities .......... 125
8.5.6 8q24 Abnormalities ........... 125
8.5.7 19p13.3 Abnormalities ......... 125
8.5.8 5q35 Abnormalities ........... 126
8.5.9 1p32 Abnormalities ........... 126
8.5.10 10q24 Abnormalities .......... 126
8.5.11 6q Abnormalities ............ 126
8.5.12 9q32 Abnormalities ........... 126
8.5.13 T-Cell Antigen Receptor Gene
Abnormalities .............. 126
8.5.14 13q14 Abnormalities ......... 126
8.5.15 9p21 Abnormalities .......... 127
8.5.16 Molecular Abnormalities Detected
by Expression Microarrays ...... 127
References ......................... 127
8.1 Introduction
The diagnosis of acute lymphoblastic leukemia (ALL) is
dependent on the identification and characterization of
blast cells in peripheral blood or bone marrow.
Although it is not clear why blasts have a tendency to
circulate in some patients and not in others, ALL can
be reliably diagnosed using peripheral blood or bone
marrow blasts when blasts are in circulation [79]. However,
distinguishing blasts from activated lymphocytes
is difficult in some patients, particularly children. Standard
care and thorough evaluation of patients with ALL
thus require good bone marrow aspiration, with highquality
smears and bone marrow biopsy specimens.
When bone marrow biopsy specimens are available,
touch imprints should be made [1].
Diagnosis and classification are generally based on
the morphologic, cytochemical, and immunologic features
of the blasts. However, cytogenetic and molecular
studies are frequently needed to confirm the diagnosis,
predict clinical behavior, and stratify patients for therapy
[14, 27, 36, 45, 65]. The French, American, and British
(FAB) classification of ALL, which recognizes three
subclasses of ALL (L1, L2, and L3), is based strictly on