PMID- 22906432
OWN - NLM
STAT- MEDLINE
DCOM- 20130325
LR  - 20121017
IS  - 1618-0631 (Electronic)
IS  - 0344-0338 (Linking)
VI  - 208
IP  - 10
DP  - 2012 Oct 15
TI  - Gonadoblastoma: Case report of two young patients with isochromosome 12p found in 
      the dysgerminoma overgrowth component in one case.
PG  - 628-32
LID - S0344-0338(12)00213-0 [pii]
LID - 10.1016/j.prp.2012.07.006 [doi]
AB  - Gonadoblastomas are unusual neoplasias that frequently appear in the dysgenetic 
      gonads of women with chromosome Y anomaly. We present two cases of gonadoblastoma 
      associated with complete gonadal dysgenesis and Turner syndrome, respectively, 
      with dysgerminoma overgrowth found in one case. We were interested in the DNA 
      ploidy, the presence of Y chromosome DNA sequence and the status of chromosome 
      12p arm among the tumor cells. We performed cytophotometry to analyze the DNA 
      content and fluorescence in situ hybridization (FISH) to identify the Y 
      chromosome and the isochromosome 12p within the tumor cells. The cytophotometric 
      result showed diploid DNA content in gonadoblastoma, whereas dysgerminoma 
      revealed aneuploid DNA. The FISH result revealed Y chromosome DNA sequence within 
      gonadoblastoma and dysgerminoma. Isochromosome 12p was identified in 
      dysgerminoma, but not in gonadoblastoma. We conclude that gonadoblastoma and 
      dysgerminoma have a strong association with the Y chromosome, and dysgerminoma 
      overgrowth is due to further chromosomal aberrations, such as isochromosome 12p. 
      Histological, immunohistocheimcal and molecular studies should render the correct 
      diagnosis. Identifying dysgerminoma overgrowth is crucial since it is associated 
      with adverse prognosis and requires additional therapy.
CI  - Copyright (c) 2012 Elsevier GmbH. All rights reserved.
FAU - Changchien, Yi-Che
AU  - Changchien YC
AD  - 1st Department of Pathology and Experimental Cancer Research, Semmelweis 
      University, Budapest, Hungary. ccwilly@hotmail.com
FAU - Haltrich, Iren
AU  - Haltrich I
FAU - Micsik, Tamas
AU  - Micsik T
FAU - Kiss, Eszter
AU  - Kiss E
FAU - Fonyad, Laszlo
AU  - Fonyad L
FAU - Papp, Gergo
AU  - Papp G
FAU - Sapi, Zoltan
AU  - Sapi Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120818
PL  - Germany
TA  - Pathol Res Pract
JT  - Pathology, research and practice
JID - 7806109
RN  - Pallister Killian syndrome
SB  - IM
MH  - Adolescent
MH  - Chromosome Disorders/*genetics/pathology/therapy
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Chromosomes, Human, Y
MH  - Cytophotometry
MH  - Dysgerminoma/*genetics/pathology/therapy
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Gonadal Dysgenesis, 46,XY/*genetics/pathology/therapy
MH  - Gonadoblastoma/*genetics/pathology/therapy
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Ovarian Neoplasms/*genetics/pathology/therapy
MH  - Phenotype
MH  - Ploidies
MH  - Predictive Value of Tests
MH  - Turner Syndrome/*genetics/pathology/therapy
EDAT- 2012/08/22 06:00
MHDA- 2013/03/26 06:00
CRDT- 2012/08/22 06:00
PHST- 2012/03/12 00:00 [received]
PHST- 2012/06/28 00:00 [revised]
PHST- 2012/07/13 00:00 [accepted]
PHST- 2012/08/22 06:00 [entrez]
PHST- 2012/08/22 06:00 [pubmed]
PHST- 2013/03/26 06:00 [medline]
AID - S0344-0338(12)00213-0 [pii]
AID - 10.1016/j.prp.2012.07.006 [doi]
PST - ppublish
SO  - Pathol Res Pract. 2012 Oct 15;208(10):628-32. doi: 10.1016/j.prp.2012.07.006. 
      Epub 2012 Aug 18.