PMID- 19216214
OWN - NLM
STAT- MEDLINE
DCOM- 20090325
LR  - 20211020
IS  - 0722-5091 (Print)
IS  - 0722-5091 (Linking)
VI  - 28
IP  - 1
DP  - 2009 Jan-Feb
TI  - Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old 
      patient.
PG  - 1-10
AB  - OBJECTIVE: Atypical teratoid/rhabdoid tumors are aggressive neoplasms of the 
      central nervous system occurring mainly in the early childhood and rarely in 
      adults. We described a case of this tumor in an 18-year-old male patient without 
      previous medical history. MATERIAL AND METHODS: The neoplasm was localized in the 
      right frontotemporal area of the brain and was totally excised. The specimen was 
      fixed in formalin and embedded in paraffin. The histological and 
      immunohistochemical features of the neoplasm were assessed, while sequencing 
      analysis as well as interphase fluorescence in situ hybridization (FISH) were 
      performed. RESULTS: Histological and immunohistochemical analysis demonstrated 
      atypical rhabdoid cells strongly and diffusely positive for EMA and Vimentin as 
      well as focally immunoreactive for SMA and GFAP. Additionally, though no 
      abnormalities detected in the coding sequence of the INI1 gene, interphase FISH 
      studies were consistent with a homozygous deletion of the INI1 gene in the 
      majority of examined nuclei. INI1 immunostaining demonstrated diffuse loss of 
      nuclear INI1 expression in tumor cells. Taken together, the results were 
      consistent with a diagnosis of atypical teratoid/rhabdoid tumor (ATRT). 
      CONCLUSIONS: 26 previous cases of ATRT have been reported in adults, thus far. To 
      our knowledge, this is the eighth case of an ATRT reported in an adult patient 
      having genetic confirmation and the first one in which the tumor is, partly, 
      localized in the right temporal area of the brain. This unusual presentation 
      underlines the necessity of considering this devastating neoplasm in the 
      differential diagnosis of malignant brain tumors of young adults.
FAU - Samaras, V
AU  - Samaras V
AD  - Department of Pathology, Hellenic Red Cross Hospital, 1 Red Cross and Athanasaki, 
      11526 Ambelokipi, Athens, Greece. vassilissamaras@yahoo.gr
FAU - Stamatelli, A
AU  - Stamatelli A
FAU - Samaras, E
AU  - Samaras E
FAU - Stergiou, I
AU  - Stergiou I
FAU - Konstantopoulou, P
AU  - Konstantopoulou P
FAU - Varsos, V
AU  - Varsos V
FAU - Judkins, A R
AU  - Judkins AR
FAU - Biegel, J A
AU  - Biegel JA
FAU - Barbatis, C
AU  - Barbatis C
LA  - eng
GR  - R01 CA046274/CA/NCI NIH HHS/United States
GR  - R01 CA046274-17A2/CA/NCI NIH HHS/United States
GR  - CA 46274/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PL  - Germany
TA  - Clin Neuropathol
JT  - Clinical neuropathology
JID - 8214420
RN  - 0 (Chromosomal Proteins, Non-Histone)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (SMARCB1 Protein)
RN  - 0 (SMARCB1 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Brain Neoplasms/genetics/metabolism/*pathology
MH  - Chromosomal Proteins, Non-Histone/genetics
MH  - DNA-Binding Proteins/genetics
MH  - Humans
MH  - Immunohistochemistry
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Rhabdoid Tumor/genetics/metabolism/*pathology
MH  - SMARCB1 Protein
MH  - Teratoma/genetics/metabolism/*pathology
MH  - Transcription Factors/genetics
PMC - PMC2712356
MID - NIHMS113796
COIS- Conflict of Interest Statement: We declare that we have no conflict of interest.
EDAT- 2009/02/17 09:00
MHDA- 2009/03/26 09:00
PMCR- 2009/07/17
CRDT- 2009/02/17 09:00
PHST- 2009/02/17 09:00 [entrez]
PHST- 2009/02/17 09:00 [pubmed]
PHST- 2009/03/26 09:00 [medline]
PHST- 2009/07/17 00:00 [pmc-release]
AID - 5346 [pii]
AID - 10.5414/npp28001 [doi]
PST - ppublish
SO  - Clin Neuropathol. 2009 Jan-Feb;28(1):1-10. doi: 10.5414/npp28001.