Despite their name, germ cell tumors occur both within and outside the ovary and testis.

- head

- inside the cranium — pineal and suprasellar locations are most commonly reported

- inside the mouth — a fairly common location for teratoma

- neck

- mediastinum — account for 1% to 5% of all germ cell neoplasms

- pelvis, particularly sacrococcygeal teratoma

- ovary

- testis

In females, germ cell tumors account for 30% of ovarian tumors, but only 1 to 3% of ovarian cancers in North America. In younger women germ cell tumors are more common, thus in patients under the age of 21, 60% of ovarian tumors are of the germ cell type, and up to one-third are malignant. In males, germ cell tumors of the testis occur typically after puberty and are malignant (testicular cancer). In neonates, infants, and children younger than 4 years, the majority of germ cell tumors are sacrococcygeal teratomas.

Males with Klinefelter syndrome have a 50 times greater risk of germ cell tumors (GSTs). In these persons, GSTs usually contain nonseminomatous elements, present at an earlier age, and seldom are gonadal in location.

The uterine sarcomas form a group of malignant tumors that arises from the smooth muscle or connective tissue of the uterus.

The average age of diagnosis is between 15 and 35 years. This is about 5 to 10 years older than men with other germ cell tumors of the testes. In most cases, they produce masses that are readily felt on testicular self-examination; however, in up to 11 percent of cases, there may be no mass able to be felt, or there may be testicular atrophy. Testicular pain is reported in up to one fifth of cases. Low back pain may occur after metastasis to the retroperitoneum.

Some cases of seminoma can present as a primary tumour outside the testis, most commonly in the mediastinum. In the ovary, the tumor is called a dysgerminoma, and in non-gonadal sites, particularly the central nervous system, it is called a germinoma.

Mixed germ cell tumors occur in many forms. Among these, a common form is teratoma with endodermal sinus tumor.

Teratocarcinoma refers to a germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. This kind of mixed germ cell tumor may be known simply as a teratoma with elements of embryonal carcinoma or choriocarcinoma, or simply by ignoring the teratoma component and referring only to its malignant component: embryonal carcinoma and/or choriocarcinoma. They can present in the anterior mediastinum.

The internal location of the fallopian tubes makes it difficult to reach an early diagnosis. Symptoms are nonspecific and may consist of pain and vaginal discharge or bleeding. A pelvic mass may be detected on a routine gynecologic examination.

Vaginal discharge in fallopian tube carcinoma result from "intermittent hydrosalphinx" that is called as "hydrops tubae profluens".

Early signs and symptoms of ovarian cancer may be absent or subtle. In most cases, symptoms exist for several months before being recognized and diagnosed. Symptoms can be misdiagnosed as irritable bowel syndrome. The early stages of ovarian cancer tend to be painless. Symptoms can vary based on the subtype. Low malignant potential (LMP) tumors, also known as borderline tumors, do not cause an increase in CA125 levels and are not identifiable with an ultrasound. The typical symptoms of an LMP tumor can include abdominal distension or pelvic pain. Particularly large masses tend to be benign or borderline.

The most typical symptoms of ovarian cancer include bloating, abdominal or pelvic pain or discomfort, back pain, irregular menstruation or postmenopausal vaginal bleeding, pain or bleeding after or during sexual intercourse, loss of appetite, fatigue, diarrhea, indigestion, heartburn, constipation, nausea, feeling full, and possibly urinary symptoms (including frequent urination and urgent urination).

The growing mass may cause pain if ovarian torsion develops. Symptoms can be caused by a mass pressing on the other abdominopelvic organs or from metastases. If these symptoms start to occur more often or more severely than usual, especially after no significant history of such symptoms, ovarian cancer is considered. Metastases may cause a Sister Mary Joseph nodule. Rarely, teratomas can cause growing teratoma syndrome or peritoneal gliomatosis. Some experience menometrorrhagia and abnormal vaginal bleeding after menopause in most cases. Other common symptoms include hirsutism, abdominal pain, virilization, and an adnexal mass.

Choriocarcinoma is a malignant, trophoblastic cancer, usually of the placenta. It is characterized by "early hematogenous spread" to the lungs. It belongs to the malignant end of the spectrum in gestational trophoblastic disease (GTD). It is also classified as a germ cell tumor and may arise in the testis or ovary.

Sex cord–gonadal stromal tumour (or sex cord–stromal tumour) is a group of tumors derived from the stromal component of the ovary and testis, which comprises the granulosa, thecal cells and fibrocytes. In contrast, the epithelial cells originate from the outer epithelial lining surrounding the gonad while the germ cell tumors arise from the precursor cells of the gametes, hence the name germ cell. In humans, this group accounts for 8% of ovarian cancers and under 5% of testicular cancers. Their diagnosis is histological: only a biopsy of the tumour can make an exact diagnosis. They are often suspected of being malignant prior to operation, being solid ovarian tumours that tend to occur most commonly in post menopausal women.

This group of tumours is significantly less common than testicular germ cell tumours in men, and slightly less common than ovarian germ cell tumours in women (see Ovarian cancer).

Primary fallopian tube cancer (PFTC), often just tubal cancer, is a malignant neoplasm that originates from the fallopian tube.

Seminoma (also known as "pure seminoma" or "classical seminoma") is a germ cell tumor of the testicle or, more rarely, the mediastinum or other extra-gonadal locations. It is a malignant neoplasm and is one of the most treatable and curable cancers, with a survival rate above 95% if discovered in early stages.

Testicular seminoma originates in the germinal epithelium of the seminiferous tubules. About half of germ cell tumors of the testicles are seminomas. Treatment usually requires removal of one testicle. However, fertility usually isn't affected. All other sexual functions will remain intact.

The lesion is found in patients who present typically with abnormal or postmenopausal bleeding or discharge. Such bleeding is followed by further evaluation leading to a tissue diagnosis, usually done by a dilatation and curettage (D&C). A work-up to follow would look for metastasis using imaging technology including sonography and MRI. The median age at diagnosis in a large study was 66 years. Histologically the lesion may coexist with classical endometrial cancer.

A malignant mixed Müllerian tumor, also known as malignant mixed mesodermal tumor, MMMT and carcinosarcoma, is a malignant neoplasm found in the uterus, the ovaries, the fallopian tubes and other parts of the body that contains both carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. It is divided into two types, homologous (in which the sarcomatous component is made of tissues found in the uterus such as endometrial, fibrous and/or smooth muscle tissues) and a heterologous type (made up of tissues not found in the uterus, such as cartilage, skeletal muscle and/or bone). MMMT account for between two and five percent of all tumors derived from the body of the uterus, and are found predominantly in postmenopausal women with an average age of 66 years. Risk factors are similar to those of adenocarcinomas and include obesity, exogenous estrogen therapies, and nulliparity. Less well-understood but potential risk factors include tamoxifen therapy and pelvic irradiation.

These tumours are of the following types, characterized by their abnormal production of otherwise apparently normal cells or tissues.

Although each of the cell and tissue types normally occurs in just one sex (male or female), within a tumour they can occur in the opposite sex. Consequently, depending on the specific histology produced, these tumours can cause virilization in women and feminization in men.

Benign tumors of the ovary include ovarian cysts, such as borderline tumor cysts.

Ovarian cancer is classified according to the histology of the tumor, obtained in a pathology report. Histology dictates many aspects of clinical treatment, management, and prognosis.

- Surface epithelial-stromal tumours, also known as ovarian epithelial tumors, are the most common type of ovarian cancer. It includes serous tumour, endometrioid tumor, and mucinous tumour. They can be benign (cystadenoma) or malignant (cystadenocarcinoma). Less common tumors are malignant Brenner tumor and transitional cell carcinoma of the ovary.

- Sex cord-stromal tumor, including estrogen-producing granulosa cell tumor and virilizing Sertoli-Leydig cell tumor or arrhenoblastoma, accounts for 8% of ovarian cancers.

- Germ cell tumor accounts for approximately 30% of ovarian tumors but only 5% of ovarian cancers, because most germ cell tumors are teratomas and most teratomas are benign. Germ cell tumors tend to occur in young women (20's-30's) and girls. Whilst overall the prognosis of germ cell tumors tend to be favourable, it can vary substantially with specific histology: for instance, the prognosis of the most common germ cell tumor (dysgerminomas) tends to be good, whilst the second most common (endodermal sinus tumor) tends to have a poor prognosis. In addition, the cancer markers used vary with tumor type: choriocarcinomas are monitored with beta-HCG; dysgerminomas with LDH; and endodermal sinus tumors with alpha-fetoprotein.

- Mixed tumors, containing elements of more than one of the above classes of tumor histology.

In the testis pure embryonal carcinoma is also uncommon, and accounts for approximately ten percent of testicular germ cell tumours. However, it is present as a component of almost ninety percent of mixed nonseminomatous germ cell tumours. The average age at diagnosis is 31 years, and typically presents as a testicular lump which may be painful. One fifth to two thirds of patients with tumours composed predominantly of embryonal carcinoma have metastases at diagnosis.

In the ovary, embryonal carcinoma is quite rare, amounting to approximately three percent of ovarian germ cell tumours. The median age at diagnosis is 15 years. Symptoms and signs are varied, and may include sexual precocity and abnormal (increased, reduced or absent) uterine bleeding.

There may be elevations in serum human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) levels but it would be in association with other tumors, (e.g. yolk sac tumor) because they themselves do not produce the serum markers. At surgery, there is extension of the tumour beyond the ovary in forty percent of cases. They are generally large, unilateral tumours, with a median diameter of 17 centimetres. Long-term survival has improved following the advent of chemotherapy. The gross and histologic features of this tumour are similar to that seen in the testis.

There is debate over the naming of MMMT; the term carcinosarcoma was formerly used to describe lesions with homologous tumors, and "malignant mixed Müllerian tumor" or "mixed mesodermal tumor" was used to describe heterologous tumors. While "carcinosarcoma" now considered standard, "malignant mixed Müllerian tumor" has a lengthy history within gynecological literature and is expected to continue to be used. The naming issue to a certain extent reflects histological characteristics and development of the tumors, in which the different types of tissues are believed to either develop separately and join into a single mass (the "collision" theory), that an adenocarcinoma stimulates the stroma to create a tumor (the "composition" theory), or that the tumor is the result of a stem cell that differentiates into different cell types (the "combination" theory). "Collision" tumors are normally easily recognized and not considered true MMMTs; the "combination" theory is most widely held, and is due to evidence that the tumors develop from a single line of cells, developing in a fashion similar to the fundus of the uterus from the Müllerian duct - first from a stem cell into a population of cells, that then differentiates into epithelial and stromal components.

There is evidence that some tumors are better explained by the composition theory, due to the aggressive nature of the epithelial cells involved which tend to metastasize much more readily than the sarcomal component. The behavior of MMMT overall is more related to the type and grade of the epithelium than the sarcoma, which suggests the sarcomal portion is an atypical "bystander" than primary driver of the tumor. Despite this, when purely endometrial tumors are compared to MMMTs, the MMMT tumor tends to have a worse prognosis.

Choriocarcinoma of the placenta during pregnancy is preceded by:

- hydatidiform mole (50% of cases)

- spontaneous abortion (20% of cases)

- ectopic pregnancy (2% of cases)

- normal term pregnancy (20–30% of cases)

- hyperemesis gravidarum

Rarely, choriocarcinoma occurs in primary locations other than the placenta; very rarely, it occurs in testicles. Although trophoblastic components are common components of mixed germ cell tumors, pure choriocarcinoma of the adult testis is rare. Pure choriocarcinoma of the testis represents the most aggressive pathologic variant of germ cell tumors in adults, characteristically with early hematogenous and lymphatic metastatic spread. Because of early spread and inherent resistance to anticancer drugs, patients have poor prognosis. Elements of choriocarcinoma in a mixed testicular tumor have no prognostic importance.

Choriocarcinomas can also occur in the ovaries.

Uterine clear-cell carcinoma (CC) is a rare form of endometrial cancer with distinct morphological features on pathology; it is aggressive and has high recurrence rate. Like uterine papillary serous carcinoma CC does not develop from endometrial hyperplasia and is not hormone sensitive, rather it arises from an atrophic endometrium. Such lesions belong to the type II endometrial cancers.

Although testicular cancer can be derived from any cell type found in the testicles, more than 95% of testicular cancers are germ cell tumors (GCTs). Most of the remaining 5% are sex cord-gonadal stromal tumours derived from Leydig cells or Sertoli cells. Correct diagnosis is necessary to ensure the most effective and appropriate treatment. To some extent, this can be done via blood tests for tumor markers, but definitive diagnosis requires examination of the histology of a specimen by a pathologist.

Most pathologists use the World Health Organization classification system for testicular tumors:

- Germ cell tumors

- "Precursor lesions"

- Intratubular germ cell neoplasia

- Unclassified type (carcinoma in situ)

- Specified types

- "Tumors of one histologic type (pure forms)"

- Seminoma

- Variant - Seminoma with syncytiotrophoblastic cells

- Spermatocytic seminoma

- Variant - spermatocytic seminoma with sarcoma

- Embryonal carcinoma

- Yolk sac tumor

- Trophoblastic tumors

- Choriocarcinoma

- Variant - monophasic choriocarcinoma

- Placental site trophoblastic tumour

- Cystic trophoblastic tumor

- Teratoma

- Variant - Dermoid cyst

- Variant - Epidermoid cyst

- Variant - Monodermal teratoma (Carcinoid, Primitive neuroectodermal tumor (PNET), Nephroblastoma-like tumor, others.

- Variant - Teratomic with somatic-type malignancy

- "Tumours of more than one histologic type (mixed forms)"

- Embryonal carcinoma and teratoma

- Teratoma and seminoma

- Choriocarcinoma and teratoma.embryonal carcinoma

- Others

- Sex cord/Gonadal stromal tumors

- Leydig cell tumor

- Sertoli cell tumor

- Lipid rich variant

- Scleriosing variant

- Large cell calcifying variant

- Intratubular sertoli cell neoplasia in Peutz-Jeghers syndrome

- Granulosa cell tumor

- Adult type

- Juvenile type

- Thecoma Fibroma Group

- Thecoma

- Fibroma

- Sex cord/gonadal stromal tumor - incompletely differentiated

- Sex cord/gonadal stromal tumor - mixed types

- Mixed Germ Cell and Sex Cord/Gonadal Stromal Tumors

- Gonadoblastoma

- Germ cell-sex cord/gonadal stromal tumor, unclassified

- Miscellaneous tumours of the testis

- Carcinoid

- Tumors of ovarian epithelial types

- Serous tumor of borderline malignancy

- Serous carcinoma

- Well differentiated endometrioid tumor

- Mucinous cystadenoma

- Mucinous cystadenocarcinoma

- Brenner tumor

- Nephroblastoma

- Paraganglioma

- Haematopoietic tumors

- Tumours of collecting ducts and rete

- Adenoma

- Carcinoma

- Tumors of the paratesticular structures

- Adenomatoid tumor

- Malignant and Benign Mesothelioma

- Adenocarcinoma of the epididymis

- Papillary cystadenoma of the epididymis

- Melanotic neuroectodermal tumor

- Desmoplastic small round cell tumor

- Mesenchymal tumors of the spermatic cord and testicular adnexae

- Lipoma

- Liposarcoma

- Rhabdomyosarcoma

- Aggressive angiomyxoma

- Angiomyofibroblastoma-like tumor (see Myxoma)

- Fibromatosis

- Fibroma

- Solitary fibrous tumor

- Others

- Secondary tumors of the testis

One of the first signs of testicular cancer is often a lump or swelling in the testes. The U.S. Preventive Services Task Force (USPSTF) recommends against routine screening for testicular cancer in asymptomatic adolescent and adults including routine testicular self-exams. However, the American Cancer Society suggests that some men should examine their testicles monthly, especially if they have a family history of cancer, and the American Urological Association recommends monthly testicular self-examinations for all young men.

Symptoms may also include one or more of the following:

- a lump in one testis which may or may not be painful

- sharp pain or a dull ache in the lower abdomen or scrotum

- a feeling often described as "heaviness" in the scrotum

- breast enlargement (gynecomastia) from hormonal effects of β-hCG

- low back pain (lumbago) due to the cancer spreading to the lymph nodes along the back

It is not very common for testicular cancer to spread to other organs, apart from the lungs. If it has, however, the following symptoms may be present:

- shortness of breath (dyspnea), cough or coughing up blood (hemoptysis) from metastatic spread to the lungs

- a lump in the neck due to metastases to the lymph nodes

Testicular cancer, cryptorchidism, hypospadias, and poor semen quality make up the syndrome known as testicular dysgenesis syndrome.

Unusual or postmenopausal bleeding may be a sign of a malignancy including uterine sarcoma and needs to be investigated. Other signs include pelvic pain, pressure, and unusual discharge. A nonpregnant uterus that enlarges quickly is suspicious. However, none of the signs are specific. Specific screening test have not been developed; a Pap smear is a screening test for cervical cancer and not designed to detect uterine sarcoma.

Epithelial-stromal tumors are classified on the basis of the epithelial cell type, the relative amounts of epithelium and stroma, the presence of processes, and the location of the epithelial elements. Microscopic pathological features determine whether a surface epithelial-stromal tumor is benign, borderline, or malignant (evidence of malignancy and stromal invasion). Borderline tumors are of uncertain malignant potential.

This group consists of serous, mucinous, endometrioid, clear cell, and brenner (transitional cell) tumors, though there are a few mixed, undifferentiated and unclassified types.