RT Book, Section
A1 Lichtman, Marshall A.
A1 Kaushansky, Kenneth
A1 Kipps, Thomas J.
A1 Prchal, Josef T.
A1 Levi, Marcel M.
SR Print(0)
ID 1126652532
T1 Classification and Clinical Manifestations of the Clonal Myeloid Disorders
T2 Williams Manual of Hematology, 8e
YR 2011
FD 2011
PB McGraw-Hill Education
PP New York, NY
SN 9780071622424
LK hemonc.mhmedical.com/content.aspx?aid=1126652532
RD 2024/04/19
AB Result  from  a  mutation(s)  of  DNA  within  a  single  pluripotential  marrow  hematopoietic  cell  or  very  early  progenitor  cell.  Mutations  disturb  the  function  of  the  gene  product.Overt  cytogenetic  abnormalities  can  be  found  in  80  percent  of  cases  of  acute  myelogenous  leukemia  (AML)  in  experienced  laboratories  (see  Williams  Hematology,  8th  ed,  Chap.  11,  Fig.  11–3,  p.  153).—  Translocations  (e.g.,  t(15;17))  and  inversions  of  chromosomes  (e.g.,  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  occur.—  Deletions  of  all  or  part  of  a  chromosome  (e.g.,  5q-  or  -7)  or  duplication  of  all  or  part  of  a  chromosome  may  be  evident  (e.g.,  trisomy  8).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.The  result  is  often  abnormal  blood  cell  concentrations  (either  above  or  below  normal),  abnormal  blood  cell  structure  and  function;  the  abnormalities  may  range  from  minimal  to  severe.Resulting  disease  phenotypes  are  numerous  and  varied  because  of  the  nine  differentiation  lineages  from  a  multipotential  hematopoietic  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.