دورية أكاديمية
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy.
| العنوان: | Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy. |
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| المؤلفون: | Chemes HE; Centro de Investigaciones Endocrinológicas Dr. César Bergadá (CEDIE), CONICET, Buenos Aires, Argentina., Venara M, Del Rey G, Arcari AJ, Musse MP, Papazian R, Forclaz V, Gottlieb S |
| المصدر: | Andrology [Andrology] 2015 Jan; Vol. 3 (1), pp. 59-69. Date of Electronic Publication: 2015 Jan 19. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101585129 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-2927 (Electronic) Linking ISSN: 20472919 NLM ISO Abbreviation: Andrology Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford : Wiley-Blackwell, 2013- |
| مواضيع طبية MeSH: | Biomarkers, Tumor/*genetics , Carcinoma in Situ/*genetics , Gonadal Dysgenesis/*genetics , Seminoma/*genetics , Sexual Development/*genetics , Testicular Neoplasms/*genetics, Adolescent ; Argentina/epidemiology ; Carcinoma in Situ/chemistry ; Carcinoma in Situ/epidemiology ; Carcinoma in Situ/pathology ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Gonadal Dysgenesis/epidemiology ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Octamer Transcription Factor-3/analysis ; Phenotype ; Ploidies ; Predictive Value of Tests ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Seminoma/chemistry ; Seminoma/epidemiology ; Seminoma/pathology ; Testicular Neoplasms/chemistry ; Testicular Neoplasms/epidemiology ; Testicular Neoplasms/pathology ; Young Adult |
| مستخلص: | All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. The adult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germ cells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90% ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS and invasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients: bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations (OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS, bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12-17 and the other at 23 years. Histological dysgenesis was significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05), which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy (p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive. Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (Fisher Exact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetal testicular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression, quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high risk of malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential. (© 2014 American Society of Andrology and European Academy of Andrology.) |
| فهرسة مساهمة: | Keywords: CIS markers; DSD; Disorders of Sex Development; OCT 3/4; ploidy; prognostic factors; testicular carcinoma in situ (CIS); testicular dysgenesis; testicular germ cell tumor (TGCT) |
| المشرفين على المادة: | 0 (Biomarkers, Tumor) 0 (Octamer Transcription Factor-3) 0 (POU5F1 protein, human) |
| تواريخ الأحداث: | Date Created: 20150120 Date Completed: 20151230 Latest Revision: 20150225 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1111/andr.301 |
| PMID: | 25598272 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2047-2927 |
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| DOI: | 10.1111/andr.301 |