Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes
| Autor: | Marjan Boter, Leendert H. J. Looijenga, Anne-Marie F. Kersemaekers, Katja P. Wolffenbuttel, Ewout W. Steyerberg, Martine Cools, J. Wolter Oosterhuis, Stenvert L. S. Drop, Koen van Aerde |
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| Přispěvatelé: | Pathology, Clinical Genetics, Urology, Public Health, General Paediatrics, Human Genetics, Cardiothoracic Surgery |
| Rok vydání: | 2005 |
| Předmět: |
Male
Testis/pathology Pathology Endocrinology Diabetes and Metabolism Clinical Biochemistry Gonadal dysgenesis XY/genetics Cell Maturation Gonadal Dysgenesis Biochemistry Carcinoma/metabolism Endocrinology Testis Diagnosis Immunohistochemistry/methods Medicine and Health Sciences Child Gonadal Dysgenesis 46 XY Germinoma Gonadal Dysgenesis 46 XY/genetics Immunohistochemistry Spermatozoa Germinoma/metabolism Undervirilization medicine.anatomical_structure Child Preschool Spermatozoa/pathology Germ cell Adult endocrine system medicine.medical_specialty Adolescent Biology Diagnosis Differential Internal medicine medicine Carcinoma Humans Preschool Ploidies Staining and Labeling Carcinoma in situ Biochemistry (medical) Intratubular germ cell neoplasia Infant medicine.disease Case-Control Studies Differential |
| Zdroj: | Journal of Clinical Endocrinology and Metabolism, 90(9), 5295-5303. Endocrine Society Journal of clinical endocrinology and metabolism, 90(9), 5295-303. The Endocrine Society Journal of Clinical Endocrinology and Metabolism |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jc.2005-0139 |
| Popis: | CONTEXT: Maturation delay of germ cells and their progression into carcinoma in situ (CIS) frequently occurs in intersex patients. A developmentally delayed germ cell resembles a CIS cell and displays prolonged expression of immunohistochemical markers used for the diagnosis of CIS. This questions their applicability in young children. OBJECTIVE: The objective of the study was the elaboration of tools to distinguish germ cells with maturation delay and CIS. DESIGN: The design was a qualitative and quantitative analysis of the expression of diagnostic markers for CIS in gonads of young patients with undervirilization syndromes. SETTING: The study was conducted in the pathology department of a university center, specializing in germ cell tumor pathogenesis. PATIENTS: Fifty-eight formalin-fixed, paraffin-embedded testicular tissue samples of 30 undervirilized patients (1 month to 23 yr of age) were analyzed. INTERVENTIONS: INTERVENTIONS included hematoxylin-eosin staining, immunohistochemistry for octamer binding transcription factor (OCT)3/4, gene encoding the stem cell factor receptor that has tyrosine kinase activity c-KIT, placental/germ alkaline phosphatase (PLAP), testis-specific protein Y encoded (TSPY), and VASA, double staining for OCT3/4 and VASA, with ploidy determination by fluorescent in situ hybridization. MAIN OUTCOME MEASURE: Maturation delay and CIS are characterized by the staining patterns of the immunohistochemical markers. RESULTS: CIS was diagnosed in three of 30 patients (10%) and four of 58 gonads (6.9%). Patient age, distribution of OCT3/4-positive cells throughout the gonad, and their position within the seminiferous tubule differ between maturation delay and CIS. Abnormal OCT3/4 and testis-specific protein Y encoded expression appear to be of pathogenetic relevance in the development of these lesions. CONCLUSION: The dimorphic expression of OCT3/4 allows distinction between maturation delay and CIS. Studies in larger patient series are essential before a biopsy to evaluate the neoplastic risk can eventually be proposed as an alternative for gonadectomy. |
| Databáze: | OpenAIRE |
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