RT Book, Section
A1 Lichtman, Marshall A.
A1 Kaushansky, Kenneth
A1 Prchal, Josef T.
A1 Levi, Marcel M.
A1 Burns, Linda J.
A1 Linch, David C.
SR Print(0)
ID 1189334390
T1 Classification and Clinical Manifestations of the Clonal Myeloid Disorders
T2 Williams Manual of Hematology, 10e
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264269204
LK hemonc.mhmedical.com/content.aspx?aid=1189334390
RD 2024/04/16
AB These  disorders  result  from  a  mutation(s)  of  DNA  within  a  single  pluripotential  marrow  hematopoietic  stem  cell  or  very  early  multipotential  progenitor  cell.  Mutations  disturb  the  function  of  the  gene  product(s).Cytogenetic  abnormalities  can  be  found  in  50%  to  80%  of  cases  of  acute  myelogenous  leukemia  (AML)  (see  Williams  Hematology,  10th  ed,  Chap.  11,  Table  11–2).—  Translocations  [eg,  t(15;17);  t(8;21)]  and  inversions  of  chromosomes  (eg,  inv16)  can  result  in  the  expression  of  fusion  genes  that  encode  fusion  proteins  that  are  oncogenic.—  Overexpression  or  underexpression  of  genes  that  encode  molecules  critical  to  the  control  of  cell  growth,  or  programmed  cell  death,  often  within  signal  transduction  pathways  or  involving  transcription  factors,  occurs.—  Deletions  of  all  or  part  of  a  chromosome  (eg,  –5,  5q–,  –7,  or  –7q)  or  duplication  of  all  or  part  of  a  chromosome  may  be  evident  (eg,  trisomy  8).—  Specific  cytogenetic  abnormalities  and  gene  mutations  and  their  correlates,  if  any,  with  specific  myeloid  neoplasms  are  described  in  Chaps.  41,  42,  43,  44,  45,  46,  47,  48.An  early  multipotential  hematopoietic  cell  undergoes  clonal  expansion  but  retains  the  ability  to  differentiate  and  mature,  albeit  with  varying  degrees  of  pathologic  features,  into  various  blood  cell  lineages  (Figure  41–1).  In  most  myeloid  neoplasms,  mutated  clone  suppresses  normal  hematopoietic  stem  cells  from  division,  and  they  become  dormant.The  result  is  often  abnormal  blood  cell  concentrations  (either  above  or  below  normal)  and  abnormal  blood  cell  structure  and  function;  the  abnormalities  may  range  from  minimal  to  severe.Resulting  disease  phenotypes  are  numerous  and  varied  because  of  the  eight  major  myeloid  and  four  major  lymphoid  differentiation  lineages  from  a  multipotential  hematopoietic  stem  cell.Neoplasms  that  result  can  be  grouped,  somewhat  arbitrarily,  by  the  degree  of  loss  of  differentiation  and  maturation  potential  and  by  the  rate  of  disease  progression.Most  patients  can  be  grouped  into  the  classic  diagnostic  designations  listed  in  Table  41–1.