THE CASE OF PRIMARY-MULTIPLE GONADAL TUMORS IN THE BACKGROUND OF THE SYNDROME OF COMPLETE INSENSITIVITY TO ANDROGENS
Vol. 64 No. 5 (2018), CLINICAL CASE
Vol. 64 No. 5 (2018)

THE CASE OF PRIMARY-MULTIPLE GONADAL TUMORS IN THE BACKGROUND OF THE SYNDROME OF COMPLETE INSENSITIVITY TO ANDROGENS

CLINICAL CASE
https://doi.org/10.37469/0507-3758-2018-64-5-664-670
Published 01.05.2018
Alena Chernyshova
Cancer Research Institute, Tomsk National Research Medical Center
Larisa Kolomiets
Cancer Research Institute, Tomsk National Research Medical Center
Olga Salyukova
Research Institute of Genetics, Tomsk National Research Medical Center
Yevgeniya Fesik
Cancer Research Institute, Tomsk National Research Medical Center
Vladimir Perelmuter
Cancer Research Institute, Tomsk National Research Medical Center
PDF (Русский)

Keywords

TUMOR
EMBRYONIC DEVELOPMENTAL DEFECTS
GONADS
KARYOTYPE

How to Cite

Chernyshova, A., Kolomiets, L., Salyukova, O., Fesik, Y., & Perelmuter, V. (2018). THE CASE OF PRIMARY-MULTIPLE GONADAL TUMORS IN THE BACKGROUND OF THE SYNDROME OF COMPLETE INSENSITIVITY TO ANDROGENS. Voprosy Onkologii, 64(5), 664–670. https://doi.org/10.37469/0507-3758-2018-64-5-664-670
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Abstract

The article presents the case of rare combination of primary-multiple gonadal tumors: malignant disgerminoma and tumor that originating from Sertoli-Leydig cells with the syndrome of complete insensitivity to androgens. According to literature this kind of primary-multiple gonadal tumors are only 0,5%. Literature does not describe cases of such combination of malignant tumors and the syndrome of complete insensitivity to androgens. Proposed clinical observation demonstrates the need for inclusion in the risk groups for the development of gonadal tumors in girls with primary amenorrhea and dysgenesis of the gonads as well as the appropriateness and importance of medical genetic counseling in timely diagnosis and prevention of non-epithelial gonadal tumors.
https://doi.org/10.37469/0507-3758-2018-64-5-664-670
PDF (Русский)

References

Карселадзе А.И., Антошечкина Е.Т. Роль структурных особенностей дисгерминомы яичника в прогнозе заболевания // Вопросы онкологии. - 1985. - Т. XXXI. - № 4. - С. 44-46.

Goglia U., Vinanzi C., Zuccarello D. et al. Identification of a novel mutation in exon 1 of the androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review // Fertil Steril. - 2011. - Vol. 96. - P. 1165-1169.

Жуковский М.А., Лебедев Н.Б., Семичева Т.В. и др. нарушения полового развития. Под ред. М.А.Жуковского. - М.: Медицина, 1989. - 272 с.

Козлова С. И., Демикова Н. С. Наследственные синдромы и медико-генетическое консультирование. - М.: КМК, 2007. - 448 с.

Тюляндин С.А. Герминогенные опухоли яичников // Практическая онкология. - 2006. - Т. 7. - № 1. - С. 52-61.

Yunusova N.V., Spirina L.V., Kondakova I.V. et al. Relationship between the expression levels of PAPP-A metalloproteinase and growth and transcriptional factors in endometrial cancer // Biology Bulletin. - 2013. - Vol. 40 (3). - P. 253-259.

Gottlieb B, Lumbroso R, Beitel LK, Trifiro MA. Molecular pathology of the androgen receptor in male (in)fertility // Reprod Biomed. Online. - 2005. - Vol. 10. - P. 42-48.

Bermudez de la Vega J.A., Fernandez-Cancio M., Bernal S., Audi L. Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family // Sex Dev. - 2015. - Vol. 9. - P. 75-79.

Гинекология по Эмилю Новаку / Под ред. Дж. Берека, И. Адаши, П. Хиллард. - М.: Практика, 2002. - 896 с.

Yunusova N.V., Kondakova I.V., Kolomiets, L.A. et al. Serum adipokines and their receptors in endometrial and colon cancer patients: Relationship with tumor invasion and metastasis // Voprosy Onkologii. - 2015. - Vol. 61 (4). - P. 619-623.

Cools M., Wolffenbuttel K.P., Hersmus R. et al. Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling // Hum Reprod. - 2017. - Vol. 32(12). - P. 2561-2573. - DOI: 10.1093/humrep/dex300

Hughes J.A., Houk C., Ahmed S.F., Lee P.A. LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders // Arch. Dis. Child. - 2006. - Vol. 91. - P 554-563.

Phelan N., Williams E.L., Cardamone S. et al. Screening for mutations in 17ß-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46, XY disorders of sex development // Eur. J. Endocrinol. - 2015. - Vol. 172. - P. 745-751.

Spirina L.V., Bochkareva N.V., Kondacova I.V. et al. Regulation of insulin-like growth NF-kB proteasome system in endometrial cancer // Molecular Biology. - 2012. - Vol. 46 (3). - P. 407-413.

Gottlieb B., Beitel L.K., Nadarajah A. et al. The androgen receptor gene mutations database (ARDB): 2012 update // Hum Mutat. - 2012. - Vol. 33. - P 887-894.

Mihala L., Goswami P., Creighton S.M., Conway G.S. Swyer syndrome: presentation and outcomes // BSOG Intern. J. Obstet. Gynecol. - 2008. - Vol. 2. - P 737-741.

Jager R.J., Anvret M., Hall K., Scherer G. A human XY female with a frame shift mutation in the candidate testic - determining gene SRY // Nature. - 1990. - Vol. 348. - P 452-454.

Kaawai M., Kano T., Kikkawa F. et al. Seven tumor markers in benign and malignand germ cell tumors of the ovary // Gynecol. Oncol. - 1992. - Vol. 45. - P. 248-253.

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