RT Book, Section
A1 Godley, Lucy A.
A1 Sukhanova, Madina
A1 Raca, Gordana
A1 Le Beau, Michelle M.
A2 Kaushansky, Kenneth
A2 Lichtman, Marshall A.
A2 Prchal, Josef T.
A2 Levi, Marcel M.
A2 Press, Oliver W.
A2 Burns, Linda J.
A2 Caligiuri, Michael
SR Print(0)
ID 1121089437
T1 Cytogenetics and Genetic Abnormalities
T2 Williams Hematology, 9e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071833004
LK accessmedicine.mhmedical.com/content.aspx?aid=1121089437
RD 2024/04/23
AB SUMMARYCytogenetic  and  genetic  analysis  provides  pathologists  and  clinicians  with  a  powerful  tool  for  the  diagnosis  and  classification  of  hematologic  malignant  diseases.  The  detection  of  an  acquired,  somatic  mutation  establishes  the  diagnosis  of  a  neoplastic  disorder  and  rules  out  hyperplasia,  dysplasia,  or  morphologic  changes  from  toxic  injury  or  vitamin  deficiency.  Specific  cytogenetic  and  genetic  abnormalities  have  been  identified  that  are  very  closely,  and  sometimes  uniquely,  associated  with  morphologically  distinct  subsets  of  leukemia  or  lymphoma,  enabling  clinicians  to  predict  their  clinical  course  and  likelihood  of  responding  to  particular  treatments.  The  detection  of  one  of  these  recurring  abnormalities  is  helpful  in  establishing  the  diagnosis  and  adds  information  of  prognostic  importance.  In  many  cases,  the  prognostic  information  derived  from  cytogenetic  and  genetic  analysis  is  independent  of  that  provided  by  other  clinical  features.  Patients  with  favorable  genetic  prognostic  features  benefit  from  standard  therapies  with  a  well-known  spectra  of  toxicities,  whereas  those  with  less-favorable  clinical  and  cytogenetic  or  genetic  characteristics  may  be  better  treated  with  more  intensive  or  investigational  therapies.  Pretreatment  cytogenetic  analysis  also  can  be  useful  in  choosing  between  post-remission  therapies  that  differ  widely  in  cost,  acute  and  chronic  morbidity,  and  effectiveness.  The  appearance  of  new  abnormalities  in  the  karyotype  of  a  patient  under  observation  often  signals  clonal  evolution  and  more  aggressive  behavior.  The  disappearance  of  a  chromosomal  abnormality  present  at  diagnosis  is  an  important  indicator  of  complete  remission  following  treatment,  and  its  reappearance  may  herald  disease  recurrence.