Post on 14-Feb-2017
LIN28A OLIG2
2 DIFFERENT CASES
ETANTR
LIN28A CD99
ETANTR
Brain Pathology 22:689-97, 2012
Brain Pathology 22:689-97, 2012
Brain Pathol 2010; 20:133-9
Pineoblastoma
2014 (in press)
School of Medicine
AT/RT
Ho et al. Acta Neuropathol 99:482, 2000
EMA
SMA
VIM
INI-1
Kim and Roberts Cancer Genet (in press)
SWI/SNF ATPase subunit genes
BRG-1
INI-1
Proposal for the diagnosis of ATRT
• One cannot make the diagnosis of ATRT without IN1 of BRG1 loss
• The diagnosis of ATRT requires both typical pathological features and IN1 or BRG1 loss
• Tumors that have typical pathological features of ATRT but no IN11 nor BRG1 loss might be termed “embryonal tumor with rhabdoid features”
• A lab that does not have BRG1 and /or INI1 needs to send the case to another lab for testing
ATRT (1)
Integrated diagnosis:
Atypical Teratoid/Rhabdoid Tumor, WHO grade IV
Histological classification:
Embryonal tumor with rhabdoid features
WHO grade:
IV
Molecular information:
INI1 loss of protein expression / mutation
or BRG1 loss of protein expression / mutation
ATRT (2)
Integrated diagnosis:
Embryonal tumor with rhabdoid features, WHO
grade IV
Histological classification:
Embryonal tumor with rhabdoid features
WHO grade:
IV
Molecular information:
INI1/BRG1 protein expression retained/not mutated or Molecular/immunohistochemical testing not performed
School of Medicine
HEREDITARY SYNDROMES • Gorlin (NBCCS) syndrome
– PTCH gene on 9q22.3
– Infants c desmoplastic/nodular/SHH medullos
• Turcot type 2
– APC gene on 5q21
– FAP, colon cancer, and medullos
• Li-Fraumeni syndrome
– TP53 gene on 17p13
– Medullos, PNETs, and CPCs
• Rhabdoid predisposition syndrome
– SMARCB1 (INI1) gene on 22q11.2
– ATRTs and MRTs in infants
75