Occurrence of gonadoblastoma
in females with Turner syndrome and Y chromosome material: a population study.
Sindrome de Frasier: caracterizado por neuropatia progresiva, infantilismo sexual, falla renal y gonadas rudimentarias en las cuales se puede desarrollar gonadoblastomas
. Es causado por una mutacion en el gen WT1.
(49) It originates only in the testis, does not occur together with other forms of germ cell tumor (except in a unique case that developed in a patient who also had a gonadoblastoma
with germinoma (50)), lacks the chromosome 12p amplification of the GCNIS-derived tumors, and shows a characteristic amplification of the DMRT1 gene near the telomeric end of chromosome 9p.
Y chromosome mosaicism and occurrence of gonadoblastoma
in cases of Turner syndrome and amenorrhea.
They show a high predisposition to ovarian cancer with the most frequent observed histotypes are gonadoblastomas
and dysgerminomas, followed by Brenner tumors, malignant teratomas, and mixed endodermal sinus tumors.[sup], The lifetime risk of gonadal tumors is in range of 15–35%.
Histopathological examination of the excised left gonad revealed features of an ovotestis with both ovarian and testicular tissues present in addition to a gonadoblastoma
on the base of dysgerminomas (Figure 4).
There is a superficial resemblance between the annular tubules pattern and the formations seen in the nests of gonadoblastoma
(Figure 11, E), but the latter almost always contains germ cells, at least in most of them, and that entity more typically is calcified even though the calcification that occurs in each can look similar (Figure 11, D and F).
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma
: an immunohistochemical study for OCT3/4 and TSPY.
(10) The GBY locus, a portion of the centromeric region of the short arm of chromosome Y, contains the testis-specific protein 1 gene (TSPY1), which seems to play a critical role in the pathogenesis of gonadoblastoma
. (11) Historically, this fact was exemplified in 1930 when Robert Meyer coined the term dysgerminoma as the characteristic tumor of the dysgenetic gonad.
Early in his career, he described (1953) the remarkable entity gonadoblastoma
, and his expanded experience in a later and exhaustive study (1970) left little for others to add.
(27) According to this classification, germ cell neoplasms are divided roughly into 7 histologic categories: dysgerminoma, yolk sac tumor, embryonal carcinoma, polyembryoma, choriocarcinoma, teratoma, and gonadoblastoma
. (27) Gonadoblastoma
, a neoplasm typically found in dysgenetic gonads, is included in the category of germ cell tumors (mixed germ cell, sex cord-stromal tumors).
(88,92) In dysgenetic gonads, the development of invasive germ cell tumors is always preceded by an in situ neoplastic lesion, either carcinoma in situ (44) (intratubular germ cell neoplasia unclassified (96)) or gonadoblastoma
. (96-98) Both originate from primordial germ cells and gonocytes.