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Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia)

Achmad Zulfa Juniarto, Bestari A Setyawati, Ika P Miranti, Ardy Santosa, Remko Hersmus, Hans Stoop, Martine Cools UGent, J Wolter Oosterhuis, Stenvert LS Drop, Sultana MH Faradz, et al. (2013) JOURNAL OF CLINICAL PATHOLOGY. 66(3). p.198-204
abstract
Aims : Caucasian patients with disorders of sex development (DSD) are at a high risk of developing germ cell cancer (GCC). GCC is prominent in young adults in Western countries, while the incidence is significantly lower in Asia. So far, the risk of GCC in Asian DSD patients is unknown. Methods and results : A detailed study of gonad histology, morphology and immunohistochemistry (OCT3/4, testis-specific protein Y-encoded, VASA, SCF/KITLG, SOX9, FOXL2) of 16 Indonesian DSD patients was undertaken. 13 cases could be analysed, including ovarian tissue (n=3), streak gonad (n=1), undifferentiated gonad (n=1) and testicular tissue (n=8), diagnosed as 46, XX (n=1), 46, XY (n=7) and sex chromosome DSD (n=5). The precursor lesion gonadoblastoma or carcinoma in situ, or GCC was diagnosed in four cases (30.8%; three 46, XY and one sex chromosome DSD). A hormone producing ovarian Leydig cell tumour was identified in a 46, XX patient, supposed to be a late onset congenital adrenal hyperplasia. Conclusions : In spite of the significantly lower risk of GCC in the general Asian population, DSD is a dominant risk factor. The study demonstrates the power of immunohistochemical markers for (early) diagnosis. This knowledge will deepen understanding of the pathobiology of GCC and clinical handling of patients with DSD, globally.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GONADOBLASTOMA, TESTIS, EXPRESSION, RISK, TESTICULAR CANCER, GERM-CELL TUMORS, CARCINOMA-IN-SITU, GENE, DIFFERENTIATION, MARKER
journal title
JOURNAL OF CLINICAL PATHOLOGY
J. Clin. Pathol.
volume
66
issue
3
pages
198 - 204
Web of Science type
Article
Web of Science id
000315292200005
JCR category
PATHOLOGY
JCR impact factor
2.551 (2013)
JCR rank
25/76 (2013)
JCR quartile
2 (2013)
ISSN
0021-9746
DOI
10.1136/jclinpath-2012-201062
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
3171170
handle
http://hdl.handle.net/1854/LU-3171170
date created
2013-03-21 15:54:14
date last changed
2016-12-19 15:39:27
@article{3171170,
  abstract     = {Aims : Caucasian patients with disorders of sex development (DSD) are at a high risk of developing germ cell cancer (GCC). GCC is prominent in young adults in Western countries, while the incidence is significantly lower in Asia. So far, the risk of GCC in Asian DSD patients is unknown. 
Methods and results : A detailed study of gonad histology, morphology and immunohistochemistry (OCT3/4, testis-specific protein Y-encoded, VASA, SCF/KITLG, SOX9, FOXL2) of 16 Indonesian DSD patients was undertaken. 13 cases could be analysed, including ovarian tissue (n=3), streak gonad (n=1), undifferentiated gonad (n=1) and testicular tissue (n=8), diagnosed as 46, XX (n=1), 46, XY (n=7) and sex chromosome DSD (n=5). The precursor lesion gonadoblastoma or carcinoma in situ, or GCC was diagnosed in four cases (30.8\%; three 46, XY and one sex chromosome DSD). A hormone producing ovarian Leydig cell tumour was identified in a 46, XX patient, supposed to be a late onset congenital adrenal hyperplasia. 
Conclusions : In spite of the significantly lower risk of GCC in the general Asian population, DSD is a dominant risk factor. The study demonstrates the power of immunohistochemical markers for (early) diagnosis. This knowledge will deepen understanding of the pathobiology of GCC and clinical handling of patients with DSD, globally.},
  author       = {Juniarto, Achmad Zulfa and Setyawati, Bestari A and Miranti, Ika P and Santosa, Ardy and Hersmus, Remko and Stoop, Hans and Cools, Martine and Oosterhuis, J Wolter and Drop, Stenvert LS and Faradz, Sultana MH and Looijenga, Leendert HJ},
  issn         = {0021-9746},
  journal      = {JOURNAL OF CLINICAL PATHOLOGY},
  keyword      = {GONADOBLASTOMA,TESTIS,EXPRESSION,RISK,TESTICULAR CANCER,GERM-CELL TUMORS,CARCINOMA-IN-SITU,GENE,DIFFERENTIATION,MARKER},
  language     = {eng},
  number       = {3},
  pages        = {198--204},
  title        = {Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia)},
  url          = {http://dx.doi.org/10.1136/jclinpath-2012-201062},
  volume       = {66},
  year         = {2013},
}

Chicago
Juniarto, Achmad Zulfa, Bestari A Setyawati, Ika P Miranti, Ardy Santosa, Remko Hersmus, Hans Stoop, Martine Cools, et al. 2013. “Gonadal Malignancy in 13 Consecutive Collected Patients with Disorders of Sex Development (DSD) from Semarang (Indonesia).” Journal of Clinical Pathology 66 (3): 198–204.
APA
Juniarto, A. Z., Setyawati, B. A., Miranti, I. P., Santosa, A., Hersmus, R., Stoop, H., Cools, M., et al. (2013). Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia). JOURNAL OF CLINICAL PATHOLOGY, 66(3), 198–204.
Vancouver
1.
Juniarto AZ, Setyawati BA, Miranti IP, Santosa A, Hersmus R, Stoop H, et al. Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia). JOURNAL OF CLINICAL PATHOLOGY. 2013;66(3):198–204.
MLA
Juniarto, Achmad Zulfa, Bestari A Setyawati, Ika P Miranti, et al. “Gonadal Malignancy in 13 Consecutive Collected Patients with Disorders of Sex Development (DSD) from Semarang (Indonesia).” JOURNAL OF CLINICAL PATHOLOGY 66.3 (2013): 198–204. Print.