Extragonadal germ cell tumors represent a small subset of 25% of all germ cell malignancies. Chemotherapy for larger tumors or tumors that have spread. When cells that are meant to form sperm in the testicles or eggs in the ovaries travel to other parts of the body, they may grow into extragonadal germ cell tumors. Some germ cell tumors occur in other areas of the body, such as the abdomen, brain and chest, though its not clear why. Most studies of egct were reported from western countries. Cap extragonadal germ cell tumor protocol revision history. The pluripotency gene lin28 is expressed in malignant germcell tumours across all age groups and histologies. Extragonadal germ cell tumors egct represent only 25% of adult germ cell malignancies. Extragonadal germ cell tumor genetic and rare diseases. The metastatic tumor is the same type of tumor as the primary tumor. Cao d, liu a, wang f, allan rw, mei k, peng y, et al. Primary extragonadal germ cell tumors are rare, and 60% of such.
Surgery for extragonadal germ cell tumor of mediastinum. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Blood tests, physical exams and scans of the abdomen, chest and pelvis, are used to. Response rates and survival are similar to patients with advancedstage testicular germcell tumors. Extragonadal germ cell tumors egct, which are defined as germ cell tumors without a primary tumor in the testes are very rare. In some cases, however, an apparent extragonadal tumor turns out to be a metastatic testicular tumor where the primary tumor has burnt out or died on its own. Age and gender can affect the risk of extragonadal germ cell tumors. Mediastinum n 27 chest pain 12 shortness of breath 15 cough 12. The latter group can be divided into seminoma and nonseminoma germ cell tumors, which include the following. Extragonadal germ cell tumors have a variable clinical course, with the potential for aggressive behavior and widespread metastases. Start here to find information on extragonadal germ cell tumors treatment. Retroperitoneal extragonadal germ cell tumor without.
Germ cells normally occur inside the gonads ovary and testis. May 28, 2018 extragonadal germ cell tumors is a fatal condition that can result in death, if early diagnosis and treatment is not provided. The most common site of extragonadal germ cell tumors is the. While most extragonadal tumors are more challenging to treat, in general, germ cell tumors have an excellent overall prognosis with 5year survival. Extragonadal gcts typically arise in midline locations, and specific sites vary with age. Sometimes, a group of germ cells grows in a way thats not normal. Bgc occur in adults as well as children, with the age ranging from.
Germ cell tumors are composed of a number of histologically different tumor types derived from the primitive germ cells of the embryonic gonad. Extragonadal germ cell tumors hollandfrei cancer medicine. Retroperitoneal germ cell tumor diagnosed by endoscopic ultrasoundguided fine needle aspiration. Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body.
Symptoms of germ cell tumors depend on the size and location of the tumor. Extragonadal germ cell tumor cancer information ohc. Summary of changes this is a major revision to the protocol. Bilateral testes were normal by ultrasonography and physical examination, but the serum afp level was increased to. The disease is metastatic extragonadal germ cell tumor, not lung cancer. The following prognostic groups are used for extragonadal germ cell tumors. Treatment of seminoma extragonadal germ cell tumors may include the following. Of 24 patients with mediastinal nonseminomas, 8 33% are alive with a median diseasefree survival dfs period of 33 months. Extragonadal germ cell tumor symptoms, diagnosis and. Blood tests, physical exams and scans of the abdomen, chest and pelvis, are used to provide doctors with more information about the tumor. Paediatric extracranial germcell tumours sciencedirect. Mediastinal and extrapulmonary origins must be excluded before a diagnosis of germ cell tumor of the lung can be confirmed.
We strongly recommend that you talk with a trusted. Risk factors for malignant extragonadal germ cell tumors include the following. Malignant extragonadal germ cell tumors may cause signs and symptoms as they grow into nearby areas. There they develop into eggs in females and sperm in males. There is now general acceptance that extragonadal germ cell tumors represent malignant transformation of germinal elements distributed to these sites without a testicular focus. Noncentral nervous system extragonadal gcts are found in a variety of anatomic locations, but most commonly affect the mediastinum and. The imaging characteristics of these tumors are nonspecific, and the definitive diagnosis of extragonadal germ cell tumor requires a biopsy. Jude childrens research hospital, the chance of children who are under. Extragonadal germ cell tumours clinical practice guidelines. Feb 05, 2020 extragonadal germ cell tumors are made up of cells that form during the early development of a fetus unborn baby. Germ cell tumor is a neoplasm that takes origin from rests of primitive germ cells that normally migrate from the yolk sac to the urogenital ridge during early embryogenesis.
Some of these same symptoms can be caused by problems that are not tumors and are not cancer. Extragonadal gcts typically arise in midline locations, and specific. The treatment of the extragonadal germ cell tumor is based on the stage, type, and location of the tumor. Extragonadal germ cell tumors in taiwan wiley online library. Extragonadal germ cell tumors treatment pdq patients.
A germ cell tumor gct is a neoplasm derived from germ cells. When cells that are meant to form sperm in the testicles or eggs in the ovaries travel to other parts of the body, they may grow into. Extragonadal germ cell tumors are made up of cells that form during the early development of a fetus unborn baby. There are many tumor markers that doctors can use to diagnose an extragonadal germ cell tumor. Extragonadal germ cell tumorspatient version national. Extragonadal germ cell tumors egct are rare and have distinct clinicopathologic features. Coughing or trouble breathing or getting enough air. Extragonadal germ cell tumors treatment pdqpatient. Literature suggests that the only known risk factor for extragonadal germ cell tumors egcts is klinefelter syndrome 47xxy, which is associated with mediastinal nonseminomatous germ cell tumors. Nonproteincoding rnas represent another promising area of investigation in germcell tumours.
Emgcts present with different clinical and biologic characteristics in different tumor locations. Surgery for extragonadal germ cell tumor of mediastinum youtube. Germ cell tumors arise predominantly from within the testis, but an important subset of germ cell tumors are extragonadal in origin. May 25, 2019 some germ cell tumors occur in other areas of the body, such as the abdomen, brain and chest, though its not clear why. Some publications from asia have reported inferior treatment outcomes compared to data from an. Extragonadal germ cell tumors differential diagnoses. Extragonadal tumors arise when these cells become cancerous. Extragonadal means outside of the gonads sex organs. Germ cell tumors gcts are classified as extragonadal if there is no evidence of a primary tumor in the testes or ovaries. Extragonadal germ cell tumors form in parts of the body outside the gonads. Extragonadal germ cell tumors occur much more commonly in males than in females and are usually seen in young adults. Mediastinal germ cell tumor an overview sciencedirect. In a growing fetus, germ cells typically move from a site near the middle of the body to the ovaries or testes gonads.
Germ cell tumors tend to respond to treatment and many can be cured, even when diagnosed at a late stage. The clinical course is variable, with a potential for aggressive behavior and widespread. They are aggressive neoplasms and can arise virtually anywhere, but typically the site of origin is in the midline mediastinum, retroperitoneum, or pineal gland. Sep 10, 2018 extragonadal germinal cell syndromes are rare tumors that predominantly affect young males. Positron emission tomography ct revealed high accumulation suvmax 12. The remaining 510% of germ cell tumors arise outside of the gonads. Cytologic features of extragonadal germ cell tumors. Extragonadal germ cell tumors in japan request pdf.
This kind of mixed germ cell tumor may be known simply as a teratoma with elements of embryonal carcinoma or choriocarcinoma, or simply by. Extragonadal germcell tumors are as curable as testicular germcell tumors when treated with intensive cisplatincontaining combination chemotherapy regimens, and surgical resection when necessary. The mediastinum is the most common anatomic site for extragonadal germ cell tumours in adults. There are signs and symptoms of extracranial germ cell tumor that can be seen in children, adolescents, or young adults.
Extragonadal germ cell tumors egcts are rare, representing 3% to 7% of all germ cell tumors. You can also get a germ cell tumor in the brain, chest, belly. Extragonadal germ cell tumors occur much more commonly in. Germcell tumours arise from molecular defects in early germline progenitors known as primordial germ cells. Klinefelter syndrome 47 xxy is the only known predisposing factor. Male extragonadal germ cell tumors egcts are characterized by a malignant transformation of germ cells without the presence of a gonadal primary tumor. Firstline highdose chemotherapy for patients with poor. If germ cells start to grow out of control, they can form germ cell tumors. Among these, a common form is teratoma with endodermal sinus tumor.
Treatment options for benign extragonadal germ cell tumors is surgery. The hypothetical model of tumorigenesis proposed by teilum 5 postulates that germinomas seminomas in testicular sites and dysgerminomas in ovarian sites arise. Imaging and blood tests are used to detect find and. Extragonadal germ cell tumors is a fatal condition that can result in death, if early diagnosis and treatment is not provided. The initial theory regarding the genesis of these tumors was that they represented metastasis from an occult gonadal primary. Egct is considered to be either a primary disease or a secondary metastatic lesion from the primary testicular tumor. Retroperitoneal extragonadal germ cell tumor without distant. Ando reported a case about an egct occurring either at the cervical lymph node or the lung. Get detailed information about the treatment of newly diagnosed and recurrent extragonadal gcts in this summary for clinicians. The tumor can be benign or malignant cancerous by its growth rate. Extragonadal germ cell tumors treatment pdq pdq cancer. Abstract extragonadal germ cell tumors eggcts are uncommon neoplasms, which. A 66yearold man was referred to our hospital for an incidentally detected 40mm mass located at the interaortocaval area around the renal hilum. Extragonadal tumors represent 37% of all germ cell tumors.
Teratocarcinoma refers to a germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. Case report extragonadal germ cell tumor in an older patient, not every mass is a lung cancer arnaoutakis, k. Radiation therapy for small tumors in one area, followed by watchful waiting if there is tumor remaining after treatment. Cytologic features of extragonadal germ cell tumors gupta. Gcts that originate outside the gonads may be birth defects resulting from errors during development of the embryo. Rnabinding protein lin28 is a marker for primary extragonadal germ cell tumors. Mixed germ cell tumor 16 cases of the 16 mixed gcts, aspiration smears showed features of more than 1 gct component in 6 cases. The medline database was then searched for relevant literature using the mesh terms neoplasm, germ cell and embryonal with subheadings drug therapy, radiotherapy, therapy, and. Extragonadal germ cell tumors account for 15% of all germ cell tumors. Cap approved pediatric extragonadal germ cell tumor germcell 3.
Extragonadal germ cell tumors represent 25% of all germ cell tumor 16 with an incidence around 11,000,000 population 17. Approximately 90% of germ cell tumors arise in the testicles, though extragonadal primary tumors of the retroperitoneum, mediastinum, and pineal gland do occur. An extracranial germcell tumor egct occurs in the abnormal growth of germ cells in the gonads testes or ovaries and the areas other than the brain via tissue, lymphatic system, or circulatory system. They account for 25% of all germ cell malignancies, 1 but their clinical behaviors are somewhat different from those of testicular germ cell tumors gct. The objective of the current study was to evaluate and describe the cytologic features of extragonadal germ cell tumors gcts, both primary and metastasis from gonadal sites, in fine. One case demonstrated features of a mature teratoma on aspiration cytology.
Egct usually occur in males between the ages of 20 and 35 years, but can occur at any age. Feb 20, 2015 germ cell tumors gcts are classified as extragonadal if there is no evidence of a primary tumor in the testes or ovaries. Primary extragonadal germ cell tumors egcts are characterized by their location on the midline structures of the body from the pineal gland to. For example, if an extragonadal germ cell tumor spreads to the lung, the tumor cells in the lung are actually cancerous germ cells.
Extragonadal germinal cell syndromes are rare tumors that predominantly affect young males. The broad range of possible germcell tumour histologies is attributed to the totipotent nature of primordial germ cell. Metachronous testicular tumor developing eight years after. Extragonadal germ cell tumors of the lung are among the rarest tumors encountered in pathology. Extragonadal malignant germ cell tumor of the lung the. The medline database was then searched for relevant literature using the mesh terms neoplasm, germ cell and embryonal with subheadings drug therapy, radiotherapy, therapy, and surgery, combined with extragonadal. Surgical removal of the tumor if it is benign teratoma. Of the 8000 annual cases of gct, only 25% are of extragonadal origin. The most widely accepted theory suggests that extragonadal germ cell tumors arise from primordial germ cells misplaced during their migration to gonads. These symptoms include fever, constipation, abnormal bleeding in vagina and miss menstruation in females, a lump in the testes in males, lumps along the midline of the body, include coccyx, neck, and abdomen. Pdf on feb 1, 2002, hj schmoll and others published extragonadal germ cell. Germ cell tumors can be cancerous malignant or not cancerous benign. They may begin to grow anywhere in the body, but usually form in the pineal gland in the brain, the chest, the lower part of the spine, or the abdomen.
Table 3 most frequent presenting symptoms by site of disease site of disease no. Primary extragonadal malignant germ cell tumors emgcts are rare and characterized by the location in the midline of the body, including mediastinum, cns, retroperitoneum and coccyx. Mediastinal germ cell tumor an overview sciencedirect topics. Extragonadal germ cell tumors gct treatment depends on the type and can include surgery, radiation, chemotherapy, and stem cell transplant. Since this is a rare type of tumor they must also differentiate it from other types of tumors. Extragonadal germ cell tumors can be benign teratoma or malignant. Extragonadal germ cell tumors can take on a variety of tumor types. Primary retroperitoneal germ cell tumors are more commonly associated with an occult testicular primary site, especially when the tumor is not midline in origin. Germ cell tumors that occur in places other than the testicles and ovaries extragonadal germ cell tumors are very rare. Overall, approximately 5% to 10% of all germ cell cancers arise in nongonadal sites, particularly in the mediastinum and retroperitoneum. Primary mediastinal germ cell tumor the mediastinum is the most common site of extragonadal germ cell tumors 11, constituting 5070% of all extragonadal germ cell tumors. Germ cells are primitive cells within the body that normally mature into ova egg or sperm cells.