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Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
Wilms’ tumor is not the only malignancy associated with 11p deletion and the AGR triad. Andersen et al.78 reported one AGR patient, a girl, who developed bilateral gonadoblastoma at 21 months. Particularly interesting is that both the kidneys and gonads are of mesodermal origin and derive from embryologically adjacent structure involving the mesonephros. These observations imply that genes in 11p13 must act pleiotrophically, and affect development of a number of different tissues (see later).
Ovarian cancer
Published in Anju Sahdev, Sarah J. Vinnicombe, Husband & Reznek's Imaging in Oncology, 2020
Stephanie Nougaret, Helen Addley, Evis Sala, Anju Sahdev
Dysgerminomas are composed of undifferentiated germ cells and are comparable histologically to testicular seminoma. They may be associated with congenital malformations of the genital tract, Turner syndrome, and with gonadoblastoma in patients with dysgenic gonads. Dysgerminomas are uncommon, accounting for only 2% of primary malignant ovarian cancers, with 80% of them occurring during the second and third decades of life, but they are the commonest MGCT. Dysgerminoma is frequently accompanied by nonspecific elevation of serum lactate dehydrogenase (LDH). On T2WI, dysgerminoma is typically an intermediate-to-high SI solid mass with several lobules that are separated by low SI fibrovascular septa which enhance avidly following IV contrast medium administration (Figure 19.18) (60).
Familial Testicular Germ Cell Tumor
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
In the United States, testicular germ cell tumors (TGCT) are often grouped into seminoma (including classic, anaplastic, and spermatocytic variants) and nonseminoma (including choriocarcinoma, embryonal carcinoma, teratoma, and yolk sac tumor) histotypes (Figure 28.1). Out of these, seminoma, yolk sac tumor, choriocarcinoma, and embryonal carcinoma are malignant, whereas teratoma is benign in prepubertal children but may be malignant in adolescents and adults. In contrast, most gonadal stromal tumors (e.g., Leydig cell tumor, Sertoli cell tumor, juvenile granulosa cell tumor, and gonadoblastoma) are benign, although they can occasionally be malignant, especially in older children.
Sex-Cord Tumor with Annular Tubules with Unusual Morphology in an Infant with Peutz-Jeghers Syndrome
Published in Fetal and Pediatric Pathology, 2022
Priyanka Maity, Nandini Das, Uttara Chatterjee, Dhananjay Basak
SCTAT and Sertoli cell tumors show some degree of overlap in the morphology. Some cases with hybrid features of sex-cord stromal tumors may be difficult to classify because of their unique morphology. Sometimes, within aggregates of the tubular formations in SCTAT, there is a proliferation of cells with a solid pattern that may be composed of lipid-rich cells, as we observed in this case. The SCTAT may evolve into a confluent overgrowth of cells with Sertoli cell characteristics with diffuse growth of oxyphilic cells or lipid-rich cells. Tubular pattern is common to both Sertoli cell tumor and SCTAT; however, the tubules in Sertoli tumors tend to be hollow. The characteristic pink concretions, within the limited areas of tubular differentiation in our case, favored a diagnosis of SCTAT. An unusual case of co-existing Sertoli cell tumor and SCTAT in a case of PJS in an 11-year-old girl has been described. She had no hormonal symptoms [3]. Steroid cell tumor was excluded by the presence of tubular differentiation and the tumor cells did not have the abundant eosinophilic cytoplasm of steroid cell tumors. Our tumor lacked the architectural and nuclear features of a luteinized granulosa cell tumor. Another close morphological mimic is the gonadoblastoma, which contains germ cells and occurs in an altogether different clinical setting associated with dysgenetic gonads in patients of disorders of sexual differentiation.
Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium
Published in Acta Clinica Belgica, 2022
Cas Dejonckheere, Carolien Moyson, Francis de Zegher, Leen Antonio, Griet Van Buggenhout, Brigitte Decallonne
In a meta-analysis of 14 studies, the risk of gonadoblastoma development in TS women with Y chromosome mosaicism was estimated around 10%, with the cumulative risk in this subgroup being 7.9% by the age of 25 years [10,13]. Two of the 14 studies reported a 0% gonadoblastoma prevalence in resected specimens, which is similar to our results [27,28]. These results, however, need to be interpreted with caution, as our data are based on pathology reports, without centralised review of the pathology specimens. In recent years, more sensitive molecular techniques such as fluorescence in situ hybridisation (FISH) and polymerase chain reaction (PCR) are being used more routinely to detect occult Y chromosome material in TS women, even in those initially considered having the standard 45,X karyotype. Cell lines other than peripheral blood lymphocytes (such as buccal epithelium, urothelium, or skin fibroblasts) might be considered to identify the exact location and degree of mosaicism, and to see whether these could potentially correspond with the presence of gonadal mosaicism and thus impact the germ cell tumour risk [28–32].
Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion
Published in Journal of Obstetrics and Gynaecology, 2019
Gulsum Kayhan, Pınar Calis, Deniz Karcaaltincaba, Esra Tug
CD caused by a SOX9 deletion is a rare condition. The deletion detected in the present foetus included the entire SOX9 gene and its upstream region, about 880kb. The foetus showed XY sex reversal and skeletal findings of CD. At present, only three CD cases have been reported with complete deletion of SOX9 gene. All three cases, as well as our case, carried the major skeletal findings of CD and were intubated due to respiratory insufficiency (Olney et al. 1999; Pop et al. 2004; Smyk et al. 2007). One of these patients had the 46, XY karyotype and no sex reversal. Therefore, our case diagnosed in the prenatal period is the fourth CD case with a SOX9 deletion, as well as the first with a 46, XY sex reversal and SOX9 deletion. The CD cases with sex reversal or ambiguous genitalia usually have bisexual internal genitalia. If they survive, gonadectomy should be recommended for these cases because of the risk of gonadoblastoma (Thomas et al. 1997).