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Gonadoblastoma: A clinicopathologic study
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Gonadoblastoma is a rare tumor found almost exclusively in patients with an underlying gonadal disorder, and accounts for two-thirds of gonadal tumors in women with abnormal gonadal development. Three cases of gonadoblastoma are reported here. One had Swyer syndrome (pure gonadal dysgenesis) with a 46-XY karyotype, the second patient had a mixed 46-XY and 46-XO karyotype, and the third patient had male pseudohermaphrodism and a 46-XY karyotype. Patients with pure gonadoblastoma have an excellent prognosis, when bilateral excision is performed. Gonadoblastoma may be overgrown by dysgerminoma, however, there is a good prognosis. Gonadoblastoma has never been detected with metastatic lesions. The prognosis for gonadoblastoma, including cases of Swyer syndrome, is good, provided early excision is performed bilaterally.
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W pracy opisano pacjentkę z dysgenezją gonad 46, XY operowaną w 14. roku życia z powodu guza (4000 g) gonady prawej. Badanie histopatologiczne wykazało obecność dysgerminoma. Po 4 miesiącach wykonano gonadektomię gonady lewej, w której badaniem histopatologicznym stwierdzono obecność gonadoblastoma. Pacjentka otrzymała leczenie farmakologiczne zgodnie z programem dla guzów germinalnych. W wieku 19 lat pacjentka ma proporcjonalną budowę ciała, wzrost 160 cm (10–25 centyli), masę ciała 52 kg (25–50 centyli). Ocena dojrzewania płciowego wg Tannera: piersi – 3°, owłosienie łonowe – 3°, pachowe – 0°. Stężenia hormonów: LH – 44,9 mIU/ml; FSH – 89,0 mIU/ml, TTE <0,2ng/ml, E2 – 37,5 pg/ml, wiek kostny – 16 lat. Densytometria: 16% ubytku kostnego w stosunku do wieku kostnego kalendarzowego (Z score – 1,3), osteopenia. Badanie ginekologiczne: wargi sromowe większe i mniejsze prawidłowo rozwinięte, łechtaczka prawidłowej wielkości. Stan po zabiegu operacyjnym obustronnej kastracji. Od roku 2003 do chwili obecnej otrzymuje substytucyjnie estrogeny.
The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome. We examined 114 females with Turner syndrome for the presence of Y chromosome material by PCR. Initially, five different primer sets were used. Y Chromosome-positive individuals were further examined with an additional four primer sets. We found 14 (12.2%; 95% confidence interval, 6.9-19.7%) patients who had Y chromosome material. The karyotype in 7 of these patients did not suggest the presence of Y chromosome material. Seven of the patients had been ovariectomized before entering the study due to verified Y chromosome material, whereas three patients were operated upon after the DNA analysis. The histopathological evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The rest
The BJC is owned by Cancer Research UK, a charity dedicated to understanding the causes, prevention and treatment of cancer and to making sure that the best new treatments reach patients in the clinic as quickly as possible. The journal reflects these aims. It was founded more than fifty years ago and, from the start, its far-sighted mission was to encourage communication of the very best cancer research from laboratories and clinics in all countries. The breadth of its coverage, its editorial independence and it consistent high standards, have made BJC one of the world's premier general cancer journals. Its increasing popularity is reflected by a steadily rising impact factor.
The occurrence of gonadal tumors was studied in 51 patients with gonadal dysgenesis. The patients have female legal sex and complained of primary amenorrhea. They were classified into two main groups: Turner's syndrome—25 cases; and gonadal dysgenesis (without somatic malformations)—26 cases. Of 25 cases of Turner's syndrome two cases of gonadal tumors were found—one gonadoblastoma and one interstitioma. Of 26 cases of gonadal dysgenesis without somatic malformations eight tumors were found—dysgerminoma (seminoma) in four cases, gonadoblastoma in three cases and a Brenner tumor in one. In all ten cases with gonadal tumors a negative sex chromatin pattern was found. Cytogenetic analysis revealed a normal male 46/XY karyotype in seven cases and in one case a 45/XO//46/XY mosaic was present. In all ten cases high secretion of gonadotrophins was encountered. The authors conclude that persistent germ cells from the embryonic stage, within malformed testicular elements or within so-called bisexual formations play an important role in pathogenesis. The authors point to the danger of gonadal neoplasm in patient with female phenotype, primary amenorrhea, signs of masculinization and presence of a negative sex chromatin pattern and a Y chromosome.
This article reports the case of a virilized 15-year-old Iranian girl with mixed gonadal dysgenesis and a gonadoblastoma of the left abdominal testis; the karyotype was 46 XY. This tumor is the eleventh recorded example of a gonadoblastoma demonstrated to arise in a patient with mixed gonadal dysgenesis. Although the Leydig or lutein cells of gonadoblastomas have been shown to be responsible for virilization in other cases, the Leydig cells of the uninvolved portion of the testis were the probable source of androgen in this patient.
Phenotypically female patients with a (mosaic) XY karyotype are at high risk to develop gonadoblastoma with potential progression to dysgerminoma. We studied a Turner's syndrome patient with a composite ovarian neoplasm of a gonadoblastoma, a dysgerminoma, and a mucinous cystadenoma. Nonradioactive in situ hybridization showed that the patient had a XO/XY genotype with deletion of part of Yq. Molecular analysis located the chromosomal breakpoint in deletion interval 6, indicating that potential genes responsible for the development of gonadoblastoma may be located on the short arm of the Y chromosome or on the long arm, centromeric of deletion interval 6. Moreover, using the XO/XY mosaicism as a clonal marker, the dysgerminoma and the mucinous cystadenoma were shown to be of independent origin. Therefore, in this case, we find support for the hypothesis that mucinous cysts with gastrointestinal epithelium can be of ovarian surface epithelial cell origin. This case also demonstrated that the occurrence of a composite tumor does not unequivocally imply that both components are of the same origin. Clonal analysis is required to determine the relation of the tumor constituents.
