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

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