TY  - CHAP
M1  - Book, Section
TI  - A Teenager with a Small-Round-Blue-Cell Tumour and a Diagnostic Translocation
A1  - Hughes, Nicola
A1  - Stark, Dan
A1  - Wilkins, Simone
A1  - Phillips, Bob
A2  - Copson, Ellen R
A2  - Hall, Peter
A2  - Board, Ruth E
A2  - Cook, Gordon
A2  - Selby, Peter
PY  - 2018
T2  - Problem Solving Through Precision Oncology
AB  - A  15-year-old  boy  was  referred  to  ENT  with  a  2  month  history  of  swelling  over  his  left  nasal  labial  region.  It  had  initially  been  thought  to  be  an  acne  cyst  but  had  continued  to  grow  despite  antibiotics.  The  patient  was  systemically  well  and  examination  was  otherwise  unremarkable.  There  was  nothing  of  note  in  his  medical  history  or  family  history.Examination  under  anaesthesia  found  a  15  mm  friable  swelling  adherent  to  the  ala  cartilage.  Histology  indicated  soft  tissue  overrun  by  a  small-round-blue-cell  tumour  suggesting,  from  cytology,  an  alveolar  rhabdomyosarcoma.  This  diagnosis  was  confirmed  by  the  finding  of  a  2;13  translocation  on  fluorescence  in  situ  hybridization  (FISH)  analysis.  Staging  was  performed  via  CT  chest,  isotope  bone  scan  and  bilateral  bone  marrow  aspirate  and  trephines,  all  of  which  showed  no  further  evidence  of  disease.The  cancer  was  staged  as  an  Intergroup  Rhabdomyosarcoma  Study  Group  (IRS)  group  II  (postsurgical)  rhabdomyosarcoma.  In  accordance  with  the  RMS-2005  trial,1  in  which  he  was  in  the  high-risk  group,  the  patient  gave  informed  consent  and  was  randomized  to  urgent  chemotherapy  with  ifosfamide,  vincristine  and  dactinomycin  (IVA).  A  restaging  MRI  after  three  cycles  showed  response,  but  there  was  a  residual  mass  at  the  original  site  measuring  11  mm  ×  14  mm  in  axial  dimension.  There  was  no  evidence  of  disease  elsewhere.  The  patient  underwent  a  left  hemimaxillectomy,  with  clear  surgical  margins,  followed  by  postoperative  concurrent  radiotherapy  41  Gy  in  23  fractions.He  received  a  further  six  cycles  of  adjuvant  IVA  chemotherapy  with  minimal  toxicity  before  being  randomized  to  6  months  of  maintenance  chemotherapy  with  oral  cyclophosphamide  and  weekly  vinorelbine.  On  completion  of  chemotherapy  he  underwent  biannual  review  in  clinic.  Seven  years  later  he  remains  disease  free,  has  graduated  from  university  and  has  been  discharged  from  the  acute  service  to  late  effects  review.What  are  small-round-blue-cell  tumours?What  are  the  characteristics  of  rhabdomyosarcomas?How  do  patients  typically  present  and  how  are  they  investigated?How  does  molecular  stratification  aid  treatment  decisions?Where  is  more  research  needed?  
SN  - 
PB  - Clinical Publishing
CY  - New York, NY
Y2  - 2021/03/08
UR  - hemonc.mhmedical.com/content.aspx?aid=1152361092
ER  -