gonadoblastoma

Summary

Summary: A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.

Top Publications

  1. Irizarry Rovira A, Lynch S, David M, Ramos Vara J. Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). J Comp Pathol. 2012;147:204-8 pubmed publisher
    ..Microscopically, the ovary was replaced with gonadoblastoma and was composed of nests of germinal cells, including large oocyte-like cells, and sex cord-stromal cells ..
  2. Livadas S, Mavrou A, Sofocleous C, van Vliet Constantinidou C, Dracopoulou M, Dacou Voutetakis C. Gonadoblastoma in a patient with del(9)(p22) and sex reversal: report of a case and review of the literature. Cancer Genet Cytogenet. 2003;143:174-7 pubmed
    ..The gonads were removed and histologic analysis disclosed dysgenetic gonads with gonadoblastoma in situ...
  3. Cheng L, Thomas A, Roth L, Zheng W, Michael H, Karim F. OCT4: a novel biomarker for dysgerminoma of the ovary. Am J Surg Pathol. 2004;28:1341-6 pubmed
    ..Formalin-fixed, paraffin-embedded cell blocks of 33 cases of dysgerminoma including 2 cases of gonadoblastoma associated with dysgerminoma and 3 cases of metastatic dysgerminoma, and 111 cases of nondysgerminomatous ..
  4. Hoei Hansen C, Kraggerud S, Abeler V, Kaern J, Rajpert De Meyts E, Lothe R. Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers. Mol Cancer. 2007;6:12 pubmed
    ..We investigated the origin of malignant OGCTs and underlying molecular events in the development of the various histological subtypes of this neoplasia...
  5. Bianco B, Lipay M, Melaragno M, Guedes A, Verreschi I. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab. 2006;19:1113-7 pubmed
    The presence of Y chromosome fragments in patients with Turner's syndrome (TS) is known to increase the risk of gonadoblastoma. The investigation of Y sequences is usually performed only in the presence of marker chromosomes and therefore ..
  6. Pauls K, Franke F, Buttner R, Zhou H. Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary. Virchows Arch. 2005;447:603-9 pubmed
    ..Our results show that gonadoblastomas mimic female fetal ovary and exhibit a stepwise progression from follicular pattern to coronary pattern and finally to dysgerminomas...
  7. Lau Y, Li Y, Kido T. Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. Syst Biol Reprod Med. 2011;57:27-34 pubmed publisher
    The gonadoblastoma locus on the human Y chromosome (GBY) is postulated to serve normal functions in spermatogenesis, but could exert oncogenic properties in predisposing susceptible germ cells to tumorigenesis in incompatible niches such ..
  8. Ben Temime R, Chachial A, Attial L, Ghodbanel I, Makhloufl T, Koubaal A, et al. 46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. Tunis Med. 2008;86:710-3 pubmed
    ..It is usually revealed by primary amenorrhea. The tumor that usually develops in Swyer syndrome is gonadoblastoma. Although gonadoblastoma is considered benign, the risk of malignant germ cell tumor development is high.
  9. Hersmus R, de Leeuw B, Stoop H, Bernard P, van Doorn H, Bruggenwirth H, et al. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Eur J Hum Genet. 2009;17:1642-9 pubmed publisher
    ..Both carcinoma in situ and gonadoblastoma (GB) can be the precursor lesion, resulting in a seminomatous or non-seminomatous invasive cancer...

More Information

Publications80

  1. Stoop H, Honecker F, van de Geijn G, Gillis A, Cools M, de Boer M, et al. Stem cell factor as a novel diagnostic marker for early malignant germ cells. J Pathol. 2008;216:43-54 pubmed publisher
    ..In dysgenetic gonads, the precursor of type II GCTs can be either CIS or a lesion known as gonadoblastoma (GB). CIS/GB originates from a primordial germ cell (PGC)/gonocyte, ie an embryonic cell...
  2. Canto P, Kofman Alfaro S, Jiménez A, Söderlund D, Barrón C, Reyes E, et al. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet Cytogenet. 2004;150:70-2 pubmed
    ..3%) patients. Six subjects underwent gonadectomy and in one of them a gonadoblastoma was found; another developed a gonadoblastoma with dysgerminoma...
  3. Delbridge M, Longepied G, Depetris D, Mattei M, Disteche C, Marshall Graves J, et al. TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution. Chromosome Res. 2004;12:345-56 pubmed
    TSPY, a candidate gene for a factor that promotes gonadoblastoma formation (GBY), is a testis-specific multicopy gene family in the male-specific region of the human Y (MSY) chromosome...
  4. Hersmus R, Kalfa N, de Leeuw B, Stoop H, Oosterhuis J, de Krijger R, et al. FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD). J Pathol. 2008;215:31-8 pubmed publisher
    ..In addition, it initiates a novel way to study the role of the supportive cells in the development of either CIS or GB...
  5. Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, et al. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet A. 2005;135:150-4 pubmed
    ..Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors...
  6. Modi D, Bhartiya D. Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea. Reprod Biomed Online. 2007;15:547-53 pubmed
    ..Histologically detectable gonadoblastoma was observed in one of seven cases (14%) that had Y chromosome mosaicism...
  7. Brant W, Rajimwale A, Lovell M, Travers S, Furness P, Sorensen M, et al. Gonadoblastoma and Turner syndrome. J Urol. 2006;175:1858-60 pubmed
    ..Recently, modern sophisticated genotyping has revealed a subgroup of TS cases with a mosaic karyotype expressing a Y chromosome. We sought to evaluate this group of patients and address their risk of gonadoblastoma.
  8. Jadhav M, Yelikar B, Karigoudar M. Gonadoblastoma with contralateral dysgerminoma in a young female--a case report. Indian J Pathol Microbiol. 2006;49:274-6 pubmed
    ..Histopathology showed gonadoblastoma in streak gonad with contralateral dysgerminoma...
  9. Cools M, Boter M, van Gurp R, Stoop H, Poddighe P, Lau Y, et al. Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads. Clin Endocrinol (Oxf). 2007;67:184-92 pubmed
    ..gonadal development in patients with gonadal dysgenesis and for estimating more accurately the risk for gonadoblastoma formation...
  10. Kildal W, Kraggerud S, Abeler V, Heim S, Trope C, Kristensen G, et al. Genome profiles of bilateral dysgerminomas, a unilateral gonadoblastoma, and a metastasis from a 46, XY phenotypic female. Hum Pathol. 2003;34:946-9 pubmed
    We present a case report of a 16-year-old, phenotypic female with bilateral dysgerminomas, a unilateral gonadoblastoma, and a peritoneal metastasis. The patient's constitutional karyotype was 46,XY...
  11. Beaulieu Bergeron M, Soglio D, Maietta A, Fournet J, Blumenkrantz M, Brochu P, et al. Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. Pediatr Dev Pathol. 2010;13:66-71 pubmed publisher
    ..The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive ..
  12. Hertel J, Huettner P, Dehner L, Pfeifer J. The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. Hum Pathol. 2010;41:1544-9 pubmed publisher
    b>Gonadoblastoma is a rare gonadal neoplasm that occurs almost exclusively in individuals who are phenotypically females...
  13. Gravholt C, Fedder J, Naeraa R, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab. 2000;85:3199-202 pubmed
    The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies ..
  14. Lau Y. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet. 1999;64:921-7 pubmed
  15. Mancilla E, Poggi H, Repetto G, Rumie H, Garcia H, Ugarte F, et al. Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma. J Pediatr Endocrinol Metab. 2003;16:1157-63 pubmed
    The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype...
  16. Looijenga L, Hersmus R, Oosterhuis J, Cools M, Drop S, Wolffenbuttel K. Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2007;21:480-95 pubmed
    ..are carcinoma in situ (CIS)/intratubular germ-cell neoplasia unclassified (ITGCNU) in testicular tissue and gonadoblastoma in those without obvious testicular differentiation...
  17. Herbst H, Kühler Obbarius C, Lauke H, Sauter M, Mueller Lantzsch N, Harms D, et al. Human endogenous retrovirus (HERV)-K transcripts in gonadoblastomas and gonadoblastoma-derived germ cell tumours. Virchows Arch. 1999;434:11-5 pubmed
    ..Because of the intimate association of noninvasive and invasive lesions, gonadoblastoma may provide clues as to the molecular pathogenesis of GCT...
  18. Li Y, Vilain E, Conte F, Rajpert De Meyts E, Lau Y. Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. Urol Oncol. 2007;25:141-6 pubmed
    ..The testis-specific protein Y-encoded gene (TSPY) is a tandem repeat gene located at the critical region for the gonadoblastoma locus on Y chromosome that predisposes the dysgenetic gonads of intersex individuals to oncogenesis...
  19. Su M, Lee I, Kuo P. Presence of TSPY transcript and absence of transcripts of other Y chromosomal genes in a case of microscopic gonadoblastoma. Gynecol Oncol. 2006;103:357-60 pubmed
    b>Gonadoblastoma is found almost exclusively in people with gonadal dysgenesis and Y chromosomal DNA fragment. Accordingly, GBY (gonadoblastoma locus on the Y chromosome) has been mapped to the Y chromosome...
  20. Cools M, Stoop H, Kersemaekers A, Drop S, Wolffenbuttel K, Bourguignon J, et al. Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. J Clin Endocrinol Metab. 2006;91:2404-13 pubmed
    ..The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients...
  21. Lau Y, Chou P, Iezzoni J, Alonzo J, Komuves L. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Cytogenet Cell Genet. 2000;91:160-4 pubmed
    The gonadoblastoma locus on the Y chromosome (GBY) predisposes the dysgenetic gonads of XY females to develop in situ tumors. It has been mapped to a critical interval on the short arm and adjacent centromeric region on the Y chromosome...
  22. Kido T, Lau Y. A Cre gene directed by a human TSPY promoter is specific for germ cells and neurons. Genesis. 2005;42:263-75 pubmed
    The testis-specific protein Y-encoded (TSPY) gene is a candidate for the gonadoblastoma locus on the Y chromosome and is expressed in normal testicular germ cells and gonadoblastoma cells of XY sex-reversed females...
  23. Kondi Pafiti A, Grapsa D, Hasiakos D, Kontorabdis A. Bilateral gonadoblastoma with extended calcification: case report of a tumor developing on dysgenetic gonads. Eur J Gynaecol Oncol. 2005;26:330-2 pubmed
    b>Gonadoblastoma is a rare tumor occurring almost exclusively in phenotypic females with intersex disorders and dysgenetic gonads...
  24. Esin S, Baser E, Kucukozkan T, Magden H. Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. Arch Gynecol Obstet. 2012;285:447-51 pubmed publisher
    ..To present a challenging case of hCG positivity in a young patient and to review similar cases reported in the literature...
  25. Kersemaekers A, Honecker F, Stoop H, Cools M, Molier M, Wolffenbuttel K, et al. Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum Pathol. 2005;36:512-21 pubmed
    ..Carcinoma in situ cells will develop into invasive seminoma/nonseminoma. Gonadoblastoma (GB) is the precursor of invasive GCTs in dysgenetic gonads, predominantly dysgerminoma (DG)...
  26. Peña Alonso R, Nieto K, Alvarez R, Palma I, Nájera N, Eraña L, et al. Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants. Mod Pathol. 2005;18:439-45 pubmed
    b>Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/seminoma...
  27. Kilic Okman T, Yardim T, Gucer F, Altaner S, Yuce M. Breast cancer, ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome. Arch Gynecol Obstet. 2008;278:75-7 pubmed publisher
    ..Patients with PJS have increased risk for gastrointestinal, breast, and female genital tract cancers...
  28. Lau Y, Li Y, Kido T. Gonadoblastoma locus and the TSPY gene on the human Y chromosome. Birth Defects Res C Embryo Today. 2009;87:114-22 pubmed publisher
    The gonadoblastoma (GBY) locus is the only oncogenic locus on the human Y chromosome...
  29. Lau Y, Lau H, Kömüves L. Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenet Genome Res. 2003;101:250-60 pubmed
    ..Genetic mapping studies have identified a gonadoblastoma locus on the human Y chromosome (GBY) that predisposes the dysgenetic gonads of XY sex-reversed patients to ..
  30. Suzuki M, Ozaki M, Ano N, Nomura K, Ozaki K, Narama I. Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). J Vet Diagn Invest. 2011;23:1028-32 pubmed publisher
    Testicular gonadoblastoma is an uncommon tumor in domestic animals...
  31. Hersmus R, Stoop H, van de Geijn G, Eini R, Biermann K, Oosterhuis J, et al. Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. PLoS ONE. 2012;7:e43952 pubmed publisher
    ..DSD patients with specific Y-sequences have an increased risk for Type II Germ Cell Tumor/Cancer, with gonadoblastoma as precursor progressing to dysgerminoma...
  32. Sallai A, Solyom J, Dobos M, Szabo J, Halasz Z, Ságodi L, et al. Y-chromosome markers in Turner syndrome: Screening of 130 patients. J Endocrinol Invest. 2010;33:222-7 pubmed publisher
    ..of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner patients...
  33. Fenzl V, Duic Z, Popić Ramac J, Skrtic A. Unexpected outcome in a treated XY reversal syndrome patient. Acta Clin Croat. 2011;50:603-7 pubmed
    ..b>Gonadoblastoma was found in the excised streak gonad...
  34. Gwin K, Cajaiba M, Caminoa Lizarralde A, Picazo M, Nistal M, Reyes Mugica M. Expanding the clinical spectrum of Frasier syndrome. Pediatr Dev Pathol. 2008;11:122-7 pubmed
    ..progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene...
  35. Cooper C, Cooper M, Carter J, Russell P. Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype. Pathology. 2007;39:284-5 pubmed
  36. Stewart C, Baker E, Beaton C, Crook M, Peverall J, Wallace S. Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome. Histopathology. 2008;52:175-82 pubmed publisher
  37. Kriplani A, Agarwal N, Parul -, Sharma M, Manchanda R. Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. J Obstet Gynaecol Res. 2003;29:63-6 pubmed
    ..Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life-saving for these individuals...
  38. Rojek A, Kwasiuk K, Obara Moszynska M, Kolesinska Z, Niedziela M. [Y chromosome in Turner syndrome]. Pediatr Endocrinol Diabetes Metab. 2017;23:37-41 pubmed publisher
    ..This paper stands for the review of the current knowledge on the genetic material of the Y chromosome in TS, especially in view of the risk of developing malignancies such as gonadoblastoma and dysgerminoma.
  39. Gru A, Williams E, Cao D. Mixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype: Report of the First Case. Am J Surg Pathol. 2017;41:1290-1297 pubmed publisher
    ..of a predominantly spermatocytic tumor (ST)-like component and a minor component of germinoma arising in gonadoblastoma in a phenotypic woman with a 46, XX peripheral karotype...
  40. Quinonez S, Park J, Rabah R, Owens K, Yashar B, Glover T, et al. 9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. Am J Med Genet A. 2013;161A:1882-96 pubmed publisher
    ..other molecular causes of 46,XY gonadal dysgenesis, patients with partial del 9p have an increased risk of gonadoblastoma. We present two patients with 46,XY gonadal dysgenesis due to partial 9p monosomy...
  41. Jaubert F, Galmiche L, Lortat Jacob S, Fournet J, Fellous M. Foxl-2 in gonad development and pathology. Arkh Patol. 2011;73:10-3 pubmed
    ..Foxl-2 dysregulation is also present in DSD and DSD associated tumors such as Gonadoblastoma and gonadoblastoma like intratubular undetermined germ cell neoplasia...
  42. Buell Gutbrod R, Ivanovic M, Montag A, Lengyel E, Fadare O, Gwin K. FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. Pediatr Dev Pathol. 2011;14:391-5 pubmed publisher
    ..This study characterized the sex cord-stromal cells of gonadoblastoma by evaluating the expression of these counteracting transcription factors...
  43. Papaioannou G, Sebire N, McHugh K. Imaging of the unusual pediatric 'blastomas'. Cancer Imaging. 2009;9:1-11 pubmed publisher
    ..more unusual blastematous pediatric tumors (lipoblastoma, osteoblastoma, chondroblastoma, hemangioblastoma, gonadoblastoma, sialoblastoma, pleuropulmonary blastoma, pancreatoblastoma, pineoblastoma, and medullomyoblastoma) that were ..
  44. Merali H, Gargollo P, Diamond D. Treatment of clitoromegaly of culturally diverse patients. J Pediatr Urol. 2009;5:292-6 pubmed publisher
    ..The Icelandic patient had bilateral ovarian dysgerminomas and a gonadoblastoma. The Bolivian patient had a 17beta-hydroxysteroid oxidoreductase deficiency...
  45. Baldet P. [Germ cell tumors of testis, current concepts]. Ann Pathol. 2001;21:399-410 pubmed
    ..Intra-tubular germ-cell neoplasia and gonadoblastoma, are pre-invasive lesions associated with cryptorchidism and gonadal dysgenesis...
  46. Soares H, Maia A, Campos M, Dória S, Lopes J, Fontoura M. Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report. Sao Paulo Med J. 2008;126:297-9 pubmed
    ..After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line ..
  47. Vallangeon B, Eble J, Ulbright T. Macroscopic sertoli cell nodule: a study of 6 cases that presented as testicular masses. Am J Surg Pathol. 2010;34:1874-80 pubmed publisher
    ..referral diagnoses included Sertoli cell tumor (2 cases), sex cord tumor with annular tubules (1 case), and gonadoblastoma (1 case)...
  48. Okuhara K, Tajima T, Nakae J, Fujieda K. A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal. J Hum Genet. 2000;45:112-4 pubmed
    ..Further, this amino acid, Asn, is a conserved residue among mammalian SRY genes. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient...
  49. Palma I, Garibay N, Pena Yolanda R, Contreras A, Raya A, Domínguez C, et al. Utility of OCT3/4, TSPY and ?-catenin as biological markers for gonadoblastoma formation and malignant germ cell tumor development in dysgenetic gonads. Dis Markers. 2013;34:419-24 pubmed publisher
    b>Gonadoblastoma (GB) is regarded as an in situ form of germ cell tumor in dysgenetic gonads, and 30% of patients with GB develop a dysgerminoma/seminoma tumor...
  50. Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. Am J Med Genet A. 2006;140:40-5 pubmed
    Cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as a pericentric inversion...
  51. Uehara S, Funato T, Yaegashi N, Suziki H, Sato J, Sasaki T, et al. SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients. Cancer Genet Cytogenet. 1999;113:78-84 pubmed
    We report three patients with XY pure gonadal dysgenesis. Two of these patients developed gonadoblastoma and associated dysgerminoma...
  52. Gutt C, Markus B, Kim Z, Meininger D, Brinkmann L, Heller K. Early experiences of robotic surgery in children. Surg Endosc. 2002;16:1083-6 pubmed
    ..To investigate the feasibility of this system in pediatric surgery, laparoscopic fundoplication (Thal and Nissen), cholecystectomy, and bilateral salpingo-oophorectomy were performed...
  53. Erdemoglu E, Ozen S. Ovarian gonodoblastoma with yolk sac tumor in a young 46, XX female: case report. Eur J Gynaecol Oncol. 2007;28:516-8 pubmed
    ..Gonodoblastomas with ovarian germ cell tumors (OGCTs) other than dysgerminoma are very unusual. This is the first case report of a pure endodermal sinus tumor of the ovary with gonodoblastoma in a 46 XX, female...
  54. Radakovic B, Jukic S, Bukovic D, Ljubojević N, Cima I. Morphology of gonads in pure XY gonadal dysgenesis. Coll Antropol. 1999;23:203-11 pubmed
    ..A more frequent occurrence of streak gonad tumors was found together with the possibility of tracing the merge gonadoblastoma into dysgerminoma (the youngest patient was 15 years old)...
  55. Giltay J, Ausems M, van Seumeren I, Zewald R, Sinke R, Faas B, et al. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study. Eur J Pediatr. 2001;160:154-8 pubmed
    ..streak ovary and a right ovary of abnormal appearance, which on histological examination appeared to contain a gonadoblastoma. DNA analysis showed that the proposed critical region of the gonadoblastoma locus on the Y chromosome was ..
  56. Katara A, Shah R, Bhandarkar D, Shaikh S. Laparoscopic management of antenatally-diagnosed abdominal cysts in newborns. Surg Laparosc Endosc Percutan Tech. 2004;14:42-4 pubmed
    ..The cysts were treated successfully by laparoscopic oopherectomy. Histopathology revealed an ovarian gonadoblastoma in the first patient and a simple cyst with calcification in the second...
  57. Funato T, Uehara S, Takahashi M, Kozawa K, Satoh J, Sasaki T, et al. Microsatellite instability in gonadal tumors of XY pure gonadal dysgenesis patients. Int J Gynecol Cancer. 2002;12:192-7 pubmed
    ..The gonadal tumors from the patients were combined gonadoblastoma and dysgerminoma...
  58. Madiwale C, Fernandes G, Pandit A, Kane S. Gonadoblastoma with distinctly unusual pattern of yolk sac tumour overgrowth. J Postgrad Med. 2003;49:175-6 pubmed
  59. Ding X, Sun A, Zhou Y, Tian Q, Yu Q, He F, et al. [Identification of potential neoplastic risk in gonadal development abnormality with Y chromosome of 79 cases]. Zhonghua Fu Chan Ke Za Zhi. 2008;43:442-4 pubmed
    ..To identify the potential neoplastic risk in gonadal development abnormality with Y chromosome...
  60. Maggio M, Liotta A, De Grazia E, Cimador M, Di Pace R, Corsello G. Polycystic ovary and gonadoblastoma in Turner's syndrome. Minerva Pediatr. 2007;59:397-401 pubmed
    ..She developed an ovary with histological polycystic pattern and a contralateral gonadoblastoma in the streak gonad. Laparoscopic gonadectomy was performed, with a good prognosis...
  61. Tajima T, Sasaki S, Tanaka Y, Kusunoki H, Nagashima T, Nonomura K, et al. 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. Horm Res. 2003;60:302-5 pubmed
    ..due to nonspecific focal and segmental glomerulosclerosis (FSGS), 46,XY sex reversal and the development of gonadoblastoma from dysgenetic gonads...
  62. Kim J, Kim S, Song J, Choi J, Kim H, Lee K. An SRY-deleted XXY female resulting from a paternally inherited t(Y;22). Ann Clin Lab Sci. 2010;40:295-9 pubmed
    ..However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma.
  63. McKnight K, Bates G. Atypical presentation and management dilemma of mixed gonadal dysgenesis. Fertil Steril. 2011;95:291.e7-9 pubmed publisher
    ..To describe a case of 45,X/46,XY mixed gonadal dysgenesis complicated by malignancy with possible metastasis...
  64. Alvarez Nava F, Soto M, Sánchez M, Fernandez E, Lanes R. Molecular analysis in Turner syndrome. J Pediatr. 2003;142:336-40 pubmed
    The frequency of Y-chromosome material is high in Turner syndrome (TS), but the ocurrence of gonadoblastoma seems to be low. We performed a study to evaluate whether DNA analysis might be a useful tool in the evaluation of patients with TS...
  65. Ben Temime R, Chechia A, Attia L, Ghodbane I, Boudaya F, Makhlouf T, et al. [Swyer syndrome: report of 5 cases]. J Gynecol Obstet Biol Reprod (Paris). 2009;38:220-5 pubmed publisher
    ..It shows an abnormality in testicular differentiation. The disease is a sex-reversal disorder resulting from embryonic testicular regression sequences...
  66. Bianco B, Lipay M, Guedes A, Oliveira K, Verreschi I. SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. Int J Gynecol Pathol. 2009;28:197-202 pubmed publisher
    ..In 2 cases, bilateral gonadoblastoma was found and, in another case, the histopathologic study of the gonads revealed hilus cell hyperplasia...
  67. Kotzot D, Dufke A, Tzschach A, Baeckert Sifeddine I, Geppert M, Holland H, et al. Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Am J Med Genet. 2002;112:51-5 pubmed
    ..short stature, completely female external genitalia, primary amenorrhea, bilateral streak gonads, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype...
  68. Chen C, Chern S, Wang T, Wang W, Wang K, Jeng C. Androgen receptor gene mutations in 46,XY females with germ cell tumours. Hum Reprod. 1999;14:664-70 pubmed
    ..patient, at the age of 17 years, developed a dysgerminoma measuring 12 x 10 x 7 cm in one abdominal testis and gonadoblastoma in the other testis...
  69. Freriks K, Timmers H, Netea Maier R, Beerendonk C, Otten B, van Alfen van der Velden J, et al. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. Eur J Med Genet. 2013;56:497-501 pubmed publisher
    ..Because of the associated risk of gonadoblastoma, mosaicism is especially important in case this involves a Y chromosome...
  70. Ruf R, Schultheiss M, Lichtenberger A, Karle S, Zalewski I, Mucha B, et al. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int. 2004;66:564-70 pubmed
    ..Sporadic mutations in the Wilms' tumor suppressor gene WT1 have been found to be present in patients with SRNS in association with Wilms' tumor (WT) and urinary or genital malformations, as well as in patients with isolated SRNS...
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