OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences

Barros, B.A.; Moraes, S.G.; Coeli, F.B.; Assumpção, J.G.; De Mello, M.P.; Maciel-Guerra, A.T.; Carvalho, A.B.; Viguetti-Campos, N.; Vieira, T.A.P.; Amstalden, E.M.I.; Andrade, J.G.R.; Esquiaveto-Aun, A.M.; Marques-de-Faria, A.P.; D'Souza-Li, L.F.R.; Lemos-Marini, S.H.V.; Guerra-Junior, G.
December 2011
Human Reproduction;Dec2011, Vol. 26 Issue 12, p3450
Academic Journal
BACKGROUND The aim of this study was to investigate the frequency of gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution. METHODS Six out of 260 patients with TS were selected based on mosaicism of the entire Y chromosome; 10 were included because Y-derivative sequences have been detected by PCR with specific oligonucleotides (sex-determining region on the Y, testis specific-protein, Y and DYZ3) and further confirmed by FISH. The 16 patients were subjected to bilateral gonadectomy at ages varying from 8.7 to 18.2 years. Both histopathological investigation with hematoxylin and eosin (H&E) and immunohistochemical analysis with anti-octamer-binding transcription factor 4 (OCT4) antibody were performed. RESULTS Gonadal neoplasia was not detected in any of the 32 gonads evaluated by H&E; however, four gonads (12%) from three patients (19%) had positive OCT4 staining in 50–80% of nuclei, suggesting the existence of germ cell tumors (gonadoblastoma or in situ carcinoma). CONCLUSIONS Evaluation of the real risk of development of gonadal tumors in TS patients with Y-derivative sequences in their chromosomal constitution may require a specific histopathological study, such as immunohistochemistry with OCT4.


Related Articles

  • Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation. Uehara, S.; Hashiyada, M.; Sato, K.; Nata, M.; Funato, T.; Okamura, K. // Journal of Human Genetics;2002, Vol. 47 Issue 6, p279 

    XY gonadal dysgenesis can be classified as either complete or incomplete according to gonadal morphology. The disease is a sex-reversal disorder resulting from embryonic testicular regression sequences and is induced by mutations in the sex-determining region Y (SRY) gene. The incidence of SRY...

  • Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. dos Santos, Ana Paula; Ribeiro Andrade, Juliana Gabriel; Cruz Piveta, Cristiane Santos; de Paulo, Juliana; Guerra-Junior, Gil; de Mello, Maricilda Palandi; Maciel-Guerra, Andréa Trevas // BMC Medical Genetics;2013, Vol. 14 Issue 1, p2 

    Background Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages...

  • Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis. McCann-Crosby, Bonnie; Gunn, Sheila; O'Brian Smith, E.; Karaviti, Lefkothea; John Hicks, M. // International Journal of Pediatric Endocrinology;2015, Vol. 2015 Issue 1, p1 

    Background: Gonadal dysgenesis (GD) is associated with increased risk of gonadal malignancy. Determining a patient's risk and appropriate timing of gonadectomy is challenging, but immunohistochemical markers (IHM) may help establish the diagnosis of malignant germ cell tumors (GCT). Our...

  • Turner Syndrome with 45,X/46,XY mosaicism underwent gonadectomy: Report of 3 cases. Tokmak, Aytekin; Akselim, Burak; Yeşilyurt, Hüseyin // Eastern Journal of Medicine;2015, Vol. 20 Issue 2, p117 

    Turner syndrome (TS) is classically characterized by complete or partial absence of one X chromosome. A Y chromosome can be detected in some of the TS patients called mosaicism. In this study we report three cases of TS with a female phenotype and a 45,X/46,XY karyotype. All of the cases were...

  • Cancer immunotherapy: Personalized T cells fight cancer. Simpson, Kendra // Nature Medicine;Jun2014, Vol. 20 Issue 6, p594 

    The article discusses a study which shows that the mosaic loss of chromosome Y (LOY) in peripheral blood cells may explain this increased cancer risk and related deaths in men.

  • DMY is a Y-specific DM-domain gene required for male development in the medaka fish. Matsuda, Masaru; Nagahama, Yoshitaka; Shinomiya, Ai; Sato, Tadashi; Matsuda, Chika; Kobayashi, Tohru; Morrey, Craig E.; Shibata, Naoki; Asakawa, Shuichi; Shimizu, Nobuyoshi; Hori, Hiroshi; Hamaguchi, Satoshi; Sakaizumi, Mitsuru // Nature;5/30/2002, Vol. 417 Issue 6888, p559 

    Examines the role of DMY, a Y-specific DM-domain gene in the male development of medaka fish. Expression of DMY in somatic cells of XY gonads; Importance of DMY in testicular development; Determination on the location of sex-determining region in the Y chromosomes.

  • Lack of a Y-Chromosomal Complement in the Majority of Gestational Trophoblastic Neoplasms. Kai Lee Yap; Hafez, Michael J.; Tsui-Lien Mao; Kurman, Robert J.; Murphy, Kathleen M.; Shih, Ie-Ming // Journal of Oncology;2010, p1 

    Gestational trophoblastic neoplasms (GTNs) are a rare group of neoplastic diseases composed of choriocarcinomas, placental site trophoblastic tumors (PSTTs) and epithelioid trophoblastic tumors (ETTs). Since these tumors are derivatives of fetal trophoblastic tissue, approximately 50% of GTN...

  • Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material. Fumi Matsumoto; Kenji Shimada; Shinobu Ida // Clinical Pediatric Endocrinology;Jul2014, Vol. 23 Issue 3, p93 

    The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our...

  • Y men have a higher cancer risk. Coghlan, Andy // New Scientist;12/13/2014, Vol. 224 Issue 2999, p1 

    The article discusses a report in "Science" magazine on a study of 6000 Swedish men by Jan Dumanski and colleagues that found those who smoked were three time as likely as non-smokers to lose Y chromosomes from some of their blood cells, increasing their risk of cancer.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics