A gonadoblastoma is a complex

neoplasm A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...

composed of a mixture of

gonad A gonad, sex gland, or reproductive gland is a mixed gland that produces the gametes and sex hormones of an organism. Female reproductive cells are egg cells, and male reproductive cells are sperm. The male gonad, the testicle, produces sper ...

al elements, such as large primordial

germ cell Germ or germs may refer to: Science * Germ (microorganism), an informal word for a pathogen * Germ cell, cell that gives rise to the gametes of an organism that reproduces sexually * Germ layer, a primary layer of cells that forms during embry ...

s, immature

Sertoli cell Sertoli cells are a type of sustentacular "nurse" cell found in human testes which contribute to the process of spermatogenesis (the production of sperm) as a structural component of the seminiferous tubules. They are activated by follicle-stimul ...

s or

granulosa cell A granulosa cell or follicular cell is a somatic cell of the sex cord that is closely associated with the developing female gamete (called an oocyte or egg) in the ovary of mammals. Structure and function In the primordial ovarian follicle, an ...

s of the

sex cord In embryogenesis, the sex cords (primitive sex cords, primitive seminiferous cords, or gonadal cords) are structures that develop from the genital ridges that further differentiate based on an embryo's sex. After sexual differentiation, at day 49, ...

, and gonadal

stromal cell Stromal cells, or mesenchymal stromal cells, are differentiating cells found in abundance within bone marrow but can also be seen all around the body. Stromal cells can become connective tissue cells of any organ, for example in the uterine mucos ...

s. Gonadoblastomas are by definition benign, but more than 50% have a co-existing

dysgerminoma A dysgerminoma is a type of germ cell tumor; it usually is malignant and usually occurs in the ovary. A tumor of the identical histology but not occurring in the ovary may be described by an alternate name: seminoma in the testis or germinoma in ...

which is malignant, and an additional 10% have other more aggressive malignancies, and as such are often treated as malignant.

Risk factors

Gonadoblastoma is most often associated with an abnormal chromosomal

karyotype A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is disce ...

, gonadal dysgenesis, or the presence of a

Y chromosome The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or abse ...

in over 90% of cases. Gonadoblastoma has been found in association with

androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births. The condition results in the partial o ...

mixed gonadal dysgenesis 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis,

and

Turner syndrome Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hair ...

, especially in the presence of Y chromosome-bearing cells. Women with Turner syndrome whose karyotype includes a Y chromosome (as in 45,X/46,XY mosaicism) are at increased risk for gonadoblastoma. Because of the risk of gonadoblastoma, individuals with Turner syndrome with detectable Y chromosome material (Mosaic Turner syndrome) should have their gonads prophylactically removed. In a population-based study, the cumulative risk for women with Turner syndrome and Y chromosome material was 7.9 percent by age 25 years.

Diagnosis

Classification

Gonadoblastomas can contain elements of both germ cells and gonadal stroma. Formerly, gonadoblastoma was sometimes regarded as a subset of

. In modern literature, it is sometimes considered to progress to dysgerminoma.

Treatment

Standard treatment would include surgical exploration via

laparotomy A laparotomy is a surgical procedure involving a surgical incision through the abdominal wall to gain access into the abdominal cavity. It is also known as a celiotomy. Origins and history The first successful laparotomy was performed without ane ...

Laparoscopy Laparoscopy () is an operation performed in the abdomen or pelvis using small incisions (usually 0.5–1.5 cm) with the aid of a camera. The laparoscope aids diagnosis or therapeutic interventions with a few small cuts in the abdomen.Medli ...

may be an option if the surgeon is particularly skilled in removing ovarian neoplasms via laparoscopy intact. If the diagnosis of gonadoblastoma is certain, a bilateral

salpingo-oophorectomy In medicine, salpingo-oophorectomy is the removal of an ovary and its Fallopian tube. This procedure is most frequently associated with prophylactic surgery in response to the discovery of a BRCA mutation, particularly those of the normally tumor ...

(BSO) should be performed to remove both the primary tumor and the dysgenic contralateral ovary. If uninvolved, the

uterus The uterus (from Latin ''uterus'', plural ''uteri'') or womb () is the organ in the reproductive system of most female mammals, including humans that accommodates the embryonic and fetal development of one or more embryos until birth. The uter ...

should be left intact. Modern reproductive endocrinology technology allows patients post BSO to achieve pregnancy via in-vitro fertilization (

IVF In vitro fertilisation (IVF) is a process of fertilisation where an egg is combined with sperm in vitro ("in glass"). The process involves monitoring and stimulating an individual's ovulatory process, removing an ovum or ova (egg or eggs) f ...

) with a donor egg.

References

External links

{{Male genital neoplasia Gynaecological neoplasia Colorectal surgery Male genital neoplasia Germ cell neoplasia