Materiały źródłowe

• #1 Diagnosing Germ Cell Tumors | NYU Langone Health

  https://nyulangone.org/conditions/germ-cell-tumors-in-children/diagnosis

  Doctors at Hassenfeld Childrens Hospital at NYU Langone diagnose several types of germ cell tumors in children. […] Because these symptoms can indicate many different conditions, your childs doctor performs tests to diagnose germ cell tumors. […] The doctor performs a physical exam to check for lumps and takes a medical history to identify symptoms and determine when they began. […] The doctor may also order a serum tumor marker test to look for levels of alpha-fetoprotein in the blood. […] Elevated levels of alpha-fetoprotein can be a sign of certain ovarian and testicular germ cell tumors. […] Your childs doctor may also check the levels of human chorionic gonadotropin, a hormone produced while a baby is in the womb. […] These tests may also be performed after treatment for germ cell tumors to determine how effective it is.

• #1 Diagnosing Germ Cell Tumors | NYU Langone Health

  https://nyulangone.org/conditions/germ-cell-tumors-in-children/diagnosis

  A doctor may take an X-ray, which uses electromagnetic radiation to form an image of the abdomen or the chest, where germ cell tumors tend to grow. […] If a tumor is suspected in the abdomen, ovaries, or testicles, the doctor may recommend an ultrasound, which uses sound waves to create images of the body. […] A CT scan may be used to locate tumors. […] A doctor may recommend performing a biopsy to determine the type of germ cell tumor in the body.

• #2 Germ cell tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/germ-cell-tumors/diagnosis-treatment/drc-20580169

  Tests and procedures used to diagnose germ cell tumors may include imaging tests, blood tests and surgery. […] Imaging tests make pictures of the body that can show the size and location of a tumor. […] A blood test can find proteins made by cancer cells. This type of test is called a tumor marker test. […] If a lump or mass could be cancer, surgery may be needed to remove it. Then the tissue is sent to a lab for testing. The tests can show whether it’s cancer. […] If your healthcare professional suspects that a germ cell tumor could be cancer, you may be referred to a doctor who specializes in cancer, called an oncologist. […] What tests do I need?

• #3 Germ Cell Tumor: Causes & Symptoms

  https://my.clevelandclinic.org/health/diseases/23505-germ-cell-tumor

  Germ cell tumors may be malignant (cancerous) or benign (noncancerous). Both types of tumors can grow larger, but only cancerous germ cell tumors can spread to other parts of your body. Cancer thats spread (metastasized) can damage your organs and is more difficult to treat. […] Germ cell tumors in children are rare, making up only 3.5% of cancer diagnoses. Theyre more common in adolescents and young adults, making up 13.9% of cancers diagnosed between ages 15 to 19. […] Your healthcare provider will perform a physical exam and ask about symptoms. They may perform any of the following tests or procedures to diagnose a germ cell tumor: […] A biopsy removes tissue from the tumor and sends it to a lab for testing. A specialist called a pathologist analyzes the sample underneath a microscope to diagnose a germ cell tumor.

• #3 Germ Cell Tumor: Causes & Symptoms

  https://my.clevelandclinic.org/health/diseases/23505-germ-cell-tumor

  The prognosis for most germ cell tumors is excellent. Removing the tumor completely often cures the disease. For instance, testicular cancer has a 95% survival rate following treatment. Ovarian germ cell tumors have a 93% survival rate. The cure rate for children with germ cell tumors ranges from 82% to 90%.

• #4 Diagnosis: Germ Cell Tumor Markers | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/childhood-germ-cell-tumors/childhood-germ-cell-tumors-diagnosis.html

  There are several ways doctors can diagnose a childhood germ cell tumor. In most cases, the diagnosis will start with a physical exam that finds symptoms such as swelling, lumps and pain. Blood tests can be used to check for tumor markers, including high levels of hormones produced by the specific types of germ cell tumors. […] Doctors can also perform a biopsy, where a small piece of a suspected tumor is removed and then analyzed. […] Doctors stage cancer based on how far it has progressed. A cancers stage helps determine the patients treatment and prognosis. […] There is no agreed upon staging system for childhood germ cell tumors in the brain. Seminoma testicular cancers are staged using the main testicular cancer staging systems. There are staging system for many other germ cell tumors (source: National Cancer Institute). […] Instead of staging, extragonadal germ cell tumors are usually placed in prognostic groups.

• #5 Testicular Cancer: Diagnosis and Treatment | MDedge

  https://blogs.the-hospitalist.org/content/testicular-cancer-diagnosis-and-treatment

  Malignant testicular neoplasms can arise from either the germ cells or sex-cord stromal cells, with the former comprising approximately 95% of all testicular cancers. Germ cell tumors may contain a single histology or a mix of multiple histologies. For clinical decision making, testicular tumors are categorized as either pure seminoma (no nonseminomatous elements present) or nonseminomatous germ cell tumors (NSGCT). The prevalence of seminoma and NSGCT is roughly equal. If a testicular tumor contains both seminomatous and nonseminomatous components, it is called a mixed germ cell tumor. Because of similarities in biological behavior, the approach to treatment of mixed germ cell tumors is similar to that for NSGCT. […] The first step in the diagnosis of testicular neoplasm is a physical exam. This should include a bimanual examination of the scrotal contents, starting with the normal contralateral testis. Normal testicle has a homogeneous texture and consistency, is freely movable, and is separable from the epididymis. Any firm, hard, or fixed mass within the substance of the tunica albuginea should be considered suspicious until proven otherwise. Spread to the epididymis or spermatic cord occurs in 10% to 15% of patients and examination should include these structures as well. A comprehensive system-wise examination for features of metastatic spread as discussed above should then be performed. If the patient has cryptorchidism, ultrasound is a mandatory part of the diagnostic workup.

• #5 Testicular Cancer: Diagnosis and Treatment | MDedge

  https://blogs.the-hospitalist.org/content/testicular-cancer-diagnosis-and-treatment

  Serum AFP, beta-hCG, and LDH have a well-established role as tumor markers in testicular cancer. The alpha subunit of hCG is shared between multiple pituitary hormones and hence does not serve as a specific marker for testicular cancer. Serum levels of AFP and/or beta-hCG are elevated in approximately 80% percent of men with NSGCTs, even in absence of metastatic spread. On the other hand, serum beta-hCG is elevated in less than 20% and AFP is not elevated in pure seminomas. […] Tumor markers by themselves are not sufficiently sensitive or specific for the diagnosis of testicular cancer, in general, or to differentiate among its subtypes. Despite this limitation, marked elevations in these markers are rarely due to causes other than germ cell tumor. […] Both seminomatous and nonseminomatous germ cell tumors of the testis are staged using the AJCC/UICC staging system, which incorporates assessments of the primary tumor (T), lymph nodes (N), and distant metastases (M) and serum tumor marker values (S). This TNMS staging enables a prognostic assessment and helps with the therapeutic approach.

• #5 Testicular Cancer: Diagnosis and Treatment | MDedge

  https://blogs.the-hospitalist.org/content/testicular-cancer-diagnosis-and-treatment

  If clinical evaluation suggests a possibility of testicular cancer, the patient must be counseled to undergo an expedited diagnostic workup and specialist evaluation, as a prompt diagnosis and treatment is key to not only improving the likelihood of cure, but also minimizing the treatments needed to achieve it. […] Scrotal ultrasound is the first imaging modality used in the diagnostic workup of patient with suspected testicular cancer. Bilateral scrotal ultrasound can detect lesions as small as 1 to 2 mm in diameter and help differentiate intratesticular lesions from extrinsic masses. A cystic mass on ultrasound is unlikely to be malignant. Seminomas appear as well-defined hypoechoic lesions without cystic areas, while NSGCTs are typically inhomogeneous with calcifications, cystic areas, and indistinct margins. However, this distinction is not always apparent or reliable. Ultrasound alone is also insufficient for tumor staging. For these reasons, a radical inguinal orchiectomy must be pursued for accurate determination of histology and local stage.

• #6 Germ cell ovarian cancer | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/ovarian-cancer/germ-cell-ovarian-cancer

  Germ cell ovarian cancer can affect anyone who has ovaries. This includes women, transgender (trans) men and people assigned female at birth. […] If you have symptoms, your GP will ask about them and examine you. They will feel your pelvis and tummy and may do an internal (vaginal) examination. […] They may arrange for you to have some of the following tests: […] Some germ cell tumours make chemicals called tumour markers. These are released into the blood. Doctors can measure them with a blood test. You may have blood tests to check for these tumour markers: AFP (alpha-fetoprotein), hCG (human chorionic gonadotrophin), LDH (lactate dehydrogenase). […] You may have ultrasound scans to check the organs inside the tummy area and the pelvis. […] At the hospital, the gynaecologist will examine you. If you have not had a pelvic ultrasound, they will arrange this. They may take blood samples to check for tumour markers, and how well your kidneys and liver are working.

• #7 Yolk Sac or Germ Cell Tumor | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/y/yolk-sac-germ-cell-tumor

  A yolk sac tumor is a rare, malignant tumor of cells that line the yolk sac of the embryo. These cells normally become ovaries or testes. The cause of a yolk sac tumor is unknown. It is most often found in children before age 1 or 2, but can occur throughout life. […] The term germ cell tumors encompasses many types of tumors, some are malignant and others are benign. These include yolk sac tumors, teratomas, embryonal carcinoma, dysgerminomas, semenoma, etc. These tumors can occur in the testes, ovaries, chest, brain and other parts of the body. […] Diagnosis of a Germ Cell Tumor […] These cancer cells secrete specific hormones, two of which are alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG). A blood test that shows an increase in either of these can help with the diagnosis. Your doctor may also check for an elevated LDH (lactate dehydrogenase). Other studies may include an ultrasound, CT scan, or MRI. A biopsy will be needed for final diagnosis. The biopsy (surgical removal of part of the mass) is done under general anesthesia, meaning the child is not conscious and will not feel any pain. Germ cell tumors can be diagnosed in utero as well (before birth). Sacrococcygeal teratomas are the most common germ cell tumor of childhood and the most frequently recognized neoplasm (tumor) of the fetus.

• #8 Diagnosis and Discussion – Case 1118 | Department of Pathology

  https://www.path.pitt.edu/diagnosis-and-discussion-case-1118

  For high stage II disease and stage III disease, multiple cycles of chemotherapy is standard. […] Seminomas usually present as a self-identified mass and may show elevations in serum LDH and -hCG. […] Histologically the cells are usually large and polygonal with clear to eosinophilic cytoplasm, distinct cell membranes, vesicular chromatin, and prominent nucleoli. […] Embryonal carcinoma is the second most common TCGT and the most frequent component of mixed germ cell tumors. […] Serum LDH levels may also be elevated. […] Serum AFP is frequently elevated in yolk sac tumor. […] Choriocarcinoma is an uncommon component of mixed germ cell tumors and is exceedingly rare in pure form (approximately 0.6% of TGCTs). […] Serum -hCG levels are often markedly elevated (50,000 IU/L), above the more mild elevations sometimes seen in seminoma and embryonal carcinoma.

• #8 Diagnosis and Discussion – Case 1118 | Department of Pathology

  https://www.path.pitt.edu/diagnosis-and-discussion-case-1118

  In addition to histologic classification, clinical stage and post-orchiectomy serum biomarker levels, including serum lactate dehydrogenase (LDH), -human chorionic gonadotropin (-hCG), and alpha-fetoprotein (AFP), are important for management decisions. […] Clinical staging is currently based on the eighth edition of the AJCC cancer staging manual, with non-metastatic tumors representing stage I, tumors with metastasis to nearby lymph nodes representing stage II, and tumors with systemic metastasis or metastasis above the diaphragm regarded as stage III. […] For stage I seminomas, the need for adjuvant chemotherapy or radiation is still a controversial topic. […] Chemotherapy is the standard treatment for seminomas of clinical stage II or III. […] In NSGCTs, surveillance after orchiectomy is a possibility for stage I disease if additional risk factors for metastasis are not present.

• #8 Diagnosis and Discussion – Case 1118 | Department of Pathology

  https://www.path.pitt.edu/diagnosis-and-discussion-case-1118

  Mixed malignant germ cell tumor consisting of yolk sac tumor, postpubertal-type (85%); embryonal carcinoma (10%); choriocarcinoma (5%); and teratoma, postpubertal-type (5%), with prominent hemorrhage and necrosis. […] The overall incidence of testicular germ cell tumors (TGCTs) is relatively low, and they predominantly affect young men between the ages of 15 and 45. […] Approximately 90% of TGCTs are associated with germ cell neoplasia in situ (GCNIS), considered to be embryonic germ cells arrested at the gonocyte stage. […] As such, fluorescence in situ hybridization (FISH) detection of chromosome 12p alterations can be used to confirm germ cell origin. […] Given that the clinical behavior of germ cell tumors is highly dependent on their classification, so too is their clinical management.

• #9 Testicular Cancer: Diagnosis and Treatment | AAFP

  https://www.aafp.org/pubs/afp/issues/2018/0215/p261.html

  Testicular cancer is the most common solid tumor among males 15 to 34 years of age. […] Scrotal ultrasonography is the preferred initial imaging study. […] Confirmation of an alternative diagnosis is required to exclude testicular cancer in patients with a scrotal mass. […] Evaluation should be guided by a complete history of the presenting symptoms and assessment for risk factors. Testicular examination should include the affected and unaffected testis for comparison. […] Scrotal ultrasonography is the preferred initial imaging study for evaluating a testicular mass. […] Before orchiectomy, evaluation includes a chemistry panel, liver function tests, and tumor markers, including measurement of beta human chorionic gonadotropin, lactate dehydrogenase (may be elevated in seminoma), and alpha fetoprotein (may be elevated in nonseminoma).

• #10 Germ Cell Tumors – Brigham and Women’s Hospital

  https://www.brighamandwomens.org/lung-center/diseases-and-conditions/germ-cell-tumors

  Germ cell tumors that form outside the testes or ovaries are known as extragonadal germ cell tumors. These tumors are usually diagnosed with imaging such as CT scans combined with blood tests but may also require a surgical biopsy for analysis. […] Your BWH thoracic surgeon will likely conduct the following tests and procedures to diagnose extragonadal germ cell tumors: Physical exam and medical history, Chest X-ray, Serum tumor marker test, a blood sample examined to measure the amounts of substances or tumor markers released into the blood by organs, tissues, or tumor cells in the body. The following three tumor markers detect extragonadal germ cell tumors: Alpha-fetoprotein (AFP), Beta-human chorionic gonadotropin (-hCG), Lactate dehydrogenase (LDH). […] Biopsy, the removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The type of biopsy depends on where the extragonadal germ cell tumor is found. Excisional biopsy: The removal of an entire lump of tissue. Incisional biopsy: The removal of part of a lump or sample of tissue. Core biopsy: The removal of tissue using a wide needle. Fine-needle aspiration (FNA) biopsy: The removal of tissue or fluid using a thin needle.

• #11

  https://link.springer.com/article/10.1007/s12254-023-00941-x

  The prognosis of nonseminomatous EGCT is poor, with 5-year overall survival rates of 17%, 60-70%, and 90% for poor, intermediate, and excellent prognosis, respectively. […] The incidence of EGCT is low, and only 23% of all GCT are diagnosed as EGCT, with the majority of these tumors being located in the upper anterior mediastinum (50-70%) followed by the retroperitoneum. […] Serum tumor markers alpha fetoprotein (AFP), -human choriogonadotropic hormone (hCG), and lactate dehydrogenase (LDH) should always be measured and might be elevated in about 40% to 60% of cases. […] The role of the new biomarker miR371, which has been shown to be diagnostic and predictive for GCT, has not been evaluated in EGCT. […] In addition, FISH analysis or PCR-based techniques can be applied to identify abnormalities of the 12p chromosome, since i(12p) or amplifications of 12p11.2-12.1 are characteristic for GCT independent of their localization.

• #11

  https://link.springer.com/article/10.1007/s12254-023-00941-x

  Therefore, identification of GCNIS as the common precursor cell for all GCT is only indicated in extragonadal tumors outside the mediastinum. […] On biopsy, immunohistochemical staining for SALL4, OCT3/4, GPC3, AFP, and GATA3 are typical markers for GCT. […] Treatment of choice is systemic chemotherapy with three cycles of PEB (cisplatin, etoposide, bleomycin) in seminomatous EGCT and with four cycles of PEB in nonseminomatous EGCT. […] The prognosis of patients with extragonadal seminomas has improved significantly, with a 5-year progression-free survival rate of 79% as compared to 67%, and a 5-year overall survival rate of 88% versus 72% upon comparing the new and the old IGCCCG classifications, respectively. […] Therefore, centralization of the surgical treatment is mandatory, and it is one of the most important steps of first-line treatment.

• #12 A pragmatic diagnostic approach to primary intracranial germ cell tumors and their treatment outcomes

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8610002/

  Primary intracranial germ cell tumors (ICGCT) are often diagnosed with tumor markers and imaging, which may avoid the need for a biopsy. […] The diagnosis of an ICGCT is often clinico-radiological along with serum and cerebrospinal fluid (CSF) tumor markers, such as alpha-fetoprotein (FP) and beta-human chorionic gonadotropin (-HCG) and imaging findings, which may obviate the need for tissue diagnosis. […] A criterion for clinical diagnosis when a biopsy is not feasible is elucidated, and comparable outcomes were demonstrated with histologically diagnosed germinomas. […] The proposed guidelines for diagnosis need to be evaluated in future studies. […] The authors propose guidelines for a diagnosis and a novel subtype of ICGCT called secreting germinoma, which is also described. […] Despite elevated markers, secreting germinomas have distinct behavior and better outcome compared with non-germinomatous germ cell tumors. […] Hence, aggressive treatment protocols with non-germinomatous germ cell tumors may not be warranted for secreting germinomas.

• #13 Intracranial germ cell tumour | The Royal Marsden

  https://www.royalmarsden.nhs.uk/your-care/cancer-types/paediatric-cancers/germ-cell-tumours/intracranial-germ-cell-tumour

  These tumours mostly develop in one of two areas: around the pituitary gland and the pineal gland. They often secrete chemical substances into the blood, alpha-fetoprotein (AFP) and beta HCG (B-HCG). These can be used as tumour markers and may help with monitoring progress during treatment. […] We will need to carry out some tests to find out as much as possible about the type, position and size of the tumour. This will help us to decide on the best treatment for your child. These tests include: […] Those children with secreting germ cell tumours can be diagnosed using brain scans and tumour marker studies. […] Treatment for intracranial germ cell tumours depends on the type of tumour and its location and spread. Common treatments include: […] The prognosis for germinomas is excellent in most cases with radiotherapy or a combination of radiotherapy and chemotherapy.

• #14 Ovarian Germ Cell Tumors: Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/6186-ovarian-germ-cell-tumors

  Ovarian germ cell tumors are growths that occur most often in people 30 and under. Most ovarian germ cell tumors are treatable with surgery. […] Your provider will perform several tests, including a pelvic exam to check for growths and other abnormalities in your abdomen, pelvis and vagina. You may also need imaging and blood tests. […] A transvaginal ultrasound is often the first imaging test providers perform if they suspect an ovarian germ cell tumor. This test allows your provider to see inside your abdomen and check for growths. […] Your provider will need to remove the tumor or the entire affected ovary to make a definitive diagnosis. A pathologist will test the cells in a lab to determine the type of tumor and whether it’s benign or malignant. […] If a tumor is malignant, providers classify the cancer using a process called staging as part of your diagnosis.

• #15 Germ Cell Tumors | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/germ-cell-tumors

  Germ cell tumors can cause a variety of symptoms in children based primarily on the size and location of the tumor. Keep in mind symptoms of a germ cell tumor may resemble other more common conditions or medical problems. It is important to consult your child’s physician for a diagnosis. […] The first step in treating your child is forming an accurate and complete diagnosis. Some germ cell tumors can be seen on a prenatal ultrasound. After birth, they are typically diagnosed using a combination of imaging and biopsy. […] Your child’s physician may order a number of different diagnostic tests for germ cell tumors, including: Prenatal ultrasound, A physical exam and complete medical history, Biopsy, which involves taking a sample of the tumor’s tissue and analyzing it under a microscope, A complete blood count, Additional blood tests may include blood chemistries, genetic testing, and an evaluation of liver and kidney function, Magnetic resonance imaging (MRI), Computerized tomography scan (CT or CAT scan), X-ray, Ultrasound. […] There may be other diagnostic tests that your doctor will discuss with you depending on your child’s individual situation.

• #16 Intracranial germ cell tumors | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/intracranial-germ-cell-tumours?lang=us

  Intracranial germ cell tumors are a heterogeneous group with variable imaging appearances, biology, response to treatment and prognosis. […] Tumor markers are useful in aiding preoperative diagnosis and monitoring following treatment. The two main markers are alpha-fetoprotein (AFP) which is synthesized by the yolk sac, and human chorionic gonadotropin (HCG) which is synthesized by the chorioepithelium. […] CT is usually the first investigation that reveals an abnormality. Except mature teratomas, which often demonstrate fat density, CT cannot reliably differentiate between different types of germ cell tumors, although as a general rule germinomas are more homogeneous in appearance than non-germinoma germ cell tumors. […] MRI is the modality of choice for evaluation of pituitary region masses and pineal region masses. Similar to CT, it is difficult to distinguish histologies based on MRI appearance.

• #17 Pediatric Teratomas and Other Germ Cell Tumors Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/939938-workup

  Diagnostic imaging is an essential part of initial staging, monitoring the response to therapy, and detecting relapse. Different modalities are appropriate at different points in the therapeutic course. […] Fluorodeoxyglucose (FDG) positron emission tomography (PET) appears to be most useful in the detection of relapse because other modalities cannot be used to detect the activity of the disease. The presence of elevated tumor marker levels, without the depiction of new disease on CT or MRI, is an indication for FDG-PET. […] Because germ cell tumors (GCTs) may be associated with chromosomal abnormalities (eg, Klinefelter syndrome and mediastinal GCTs), genetic screening is advisable in many cases. […] Differentiation of the various subtypes of testicular GCTs may be facilitated by immunohistochemical testing for molecular markers such as Aurora B, GPR30, Nek2, HMGA1, HMGA2, and others. Such markers could represent also useful novel molecular targets for antineoplastic strategies.

• #18 Extragonadal Germ Cell Tumors Treatment – NCI

  https://www.cancer.gov/types/extragonadal-germ-cell/patient/extragonadal-treatment-pdq

  Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body. […] Imaging and blood tests are used to diagnose extragonadal germ cell tumors. […] Malignant extragonadal germ cell tumors may cause signs and symptoms as they grow into nearby areas. […] In addition to asking about your personal and family health history and doing a physical exam, your doctor may perform the following tests and procedures: […] Blood levels of the tumor markers help determine if the tumor is a seminoma or nonseminoma. […] You may want to get a second opinion to confirm your diagnosis and treatment plan. […] The prognosis and treatment options depend on: […] After an extragonadal germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body.

• #19 Testicular Cancer Diagnosis | Testicular Cancer Testing | American Cancer Society

  https://www.cancer.org/cancer/types/testicular-cancer/detection-diagnosis-staging/how-diagnosed.html

  Ultrasound of the testicles is often the first test done if the doctor thinks you might have testicular cancer. It uses sound waves to produce images of the inside of your body. It can be used to see if a change is a certain benign condition (like a hydrocele or varicocele) or a solid tumor that could be a cancer. If the lump is solid, its more likely to be a cancer. In this case, the doctor might recommend other tests or even surgery to remove the testicle. […] Some blood tests can help diagnose testicular tumors. Many testicular cancers make high levels of certain proteins called tumor markers, such as alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG). When these tumor markers are in the blood, it suggests that there’s a testicular tumor. […] Most types of cancer are diagnosed by removing a small piece of the tumor and looking at it under a microscope for cancer cells. This is known as a biopsy. But a biopsy is rarely done for a testicular tumor because it might risk spreading the cancer. The doctor can often get a good idea of whether it’s testicular cancer based on the ultrasound and blood tumor marker tests, so instead of a biopsy the doctor will very likely recommend surgery (a radical inguinal orchiectomy) to remove the tumor as soon as possible.

• #20 Germ Cell Tumors and Sex Cord Stromal Tumors Diagnosis | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/pediatrics/cancer-care/types/germ-cell-tumors-sex-cord-tumors/diagnosis

  A few tests can help us diagnose if your child has germ cell tumors or sex cord tumors. […] If your childs doctors think they may have a germ cell tumor (GCT) or sex cord tumor, they will order tests. These tests include: Blood tests to look for certain hormones and proteins called tumor markers, made by these tumors. […] If doctors see a tumor on a scan, they may choose to remove all of it. They may also choose to do a biopsy, a procedure to remove a sample of a tumor tissue. […] The sample is sent to a laboratory to confirm the tumor type. A pathologist will look at the tissue or cells removed during surgery or biopsy. […] A pathologist is a doctor who uses a microscope and other tools to make a diagnosis. MSK pathologists are highly trained in diagnosing rare tumors in children, including GCTs and sex cord stromal tumors. […] Our team also examines tumor gene mutations using the latest tumor tissue test. This test was developed at MSK and is called MSK-IMPACT. The test results can help doctors match your child with the best treatments for the kind of tumor they have.

• #21 Ovarian Germ Cell Tumors: Causes, Symptoms, and Treatment

  https://www.webmd.com/ovarian-cancer/ovarian-germ-cell-tumors

  Your doctor will ask about your health and any symptoms you’ve had, and then feel your belly for any swelling or lumps. […] These tests can help diagnose ovarian germ cell tumors: […] Blood test. Cancers sometimes release substances called tumor markers into the blood. Doctors can look for these markers to help diagnose ovarian germ cell tumors. […] CT, or computed tomography scan. This powerful X-ray makes detailed pictures of your ovaries and other organs. […] MRI, or magnetic resonance imaging. It uses powerful magnets and radio waves to make pictures of your ovaries and other organs. […] Laparotomy. During this procedure, the doctor makes a cut in your abdomen to look for signs of cancer. The doctor might remove a small piece of tissue to check under a microscope. This is called a biopsy. […] If you do have cancer, other tests can show whether it has spread to other parts of your body. This helps to determine your cancer’s stage. Knowing the stage can help your doctor find the right treatment for you.

• #22 Germ cell tumors of the gonads: a selective review emphasizing problems in differential diagnosis, newly appreciated, and controversial issues | Modern Pathology

  https://www.nature.com/articles/3800310

  Gonadal germ cell tumors continue to be the cause of diverse, diagnostically challenging issues for the pathologist, and their correct resolution often has major important therapeutic and prognostic implications. […] Awareness of these variants, good technical preparations, the retained typical cytological features of germinoma cells, and the judicious use of tailored panels of immunohistochemical stains resolve these dilemmas in virtually all instances. […] Cytoplasmic membrane immunoreactivity for placental alkaline phosphatase and CD117, with usual negativity for AE1/AE3 cytokeratins, is helpful in the diagnosis of germinoma. […] The recently described marker, OCT3/4, a nuclear transcription factor, is especially helpful in the differential of germinoma and embryonal carcinoma with other neoplasms.

• #23 Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue – Mayo Clinic Laboratories | Genetics and Genomics

  https://genetics.testcatalog.org/show/GCTF

  Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation […] Gain of the short arm of chromosome 12, most commonly as an isochromosome 12p [i(12p)], is a highly nonrandom chromosomal marker seen in a significant percentage of GCT. While i(12p) is not 100% specific for GCT, the literature indicates it has diagnostic and possible therapeutic relevance for patients with these tumors. Testing of i(12p) should be concomitant with histologic evaluation, and positive results may support the diagnosis of GCT. […] A positive result is consistent with an isochromosome 12p. The significance of this finding is dependent on the clinical and pathologic features. […] A negative result suggests an isochromosome 12p is not present but does not exclude the diagnosis of germ cell tumors.

• #24 Germ cell tumor – Wikipedia

  https://en.wikipedia.org/wiki/Germ_cell_tumor

  A germ cell tumor (GCT) is a neoplasm derived from primordial germ cells. Germ-cell tumors can be cancerous or benign. Germ cell tumors typically originate from the gonads (ovary and testis), but can arise in other areas of the body. Extragonadal GCTs are thought to result from abnormal migration of germ cell precursors during development of the embryo. […] GCTs are classified by their histology, regardless of location in the body. However, as more information about the genetics of these tumors become available, they may be classified based on specific gene mutations that characterize specific tumors. They are broadly divided in two classes: The germinomatous or seminomatous germ-cell tumors (GGCT, SGCT) include only germinoma and its synonyms dysgerminoma and seminoma. The nongerminomatous or nonseminomatous germ-cell tumors (NGGCT, NSGCT) include all other germ-cell tumors, pure and mixed.

• #24 Germ cell tumor – Wikipedia

  https://en.wikipedia.org/wiki/Germ_cell_tumor

  The two classes reflect an important clinical difference. Compared with germinomatous tumors, nongerminomatous tumors tend to grow faster, have an earlier mean age at time of diagnosis (around 25 years versus 35 years, in the case of testicular cancers), and have a lower five-year survival rate. The survival rate for germinomatous tumors is higher in part because these tumors are very sensitive to radiation, and they also respond well to chemotherapy. The prognosis for nongerminomatous tumours has improved dramatically, however, due to the use of platinum-based chemotherapy regimens. […] Treatment typically involves a combination of surgery and chemotherapy, depending on the subtype and location of the tumor. Surgery is performed upfront for testicular and ovarian tumors, as biopsies are associated with peritoneal and scrotal tumor seeding.

• #24 Germ cell tumor – Wikipedia

  https://en.wikipedia.org/wiki/Germ_cell_tumor

  Testicular germ cell tumors are treated by orchiectomy, followed by surveillance, lymph node staging, and/or chemotherapy depending on the risk stratification defined by the International Germ Cell Cancer Collaborative Group (IGCCCG). Treatment for ovarian germ cell tumors typically involves at least ovarian cystectomy. Removal of the ovaries, fallopian tube, uterus, and retroperitoneal lymph nodes may be planned depending on patient age, reproductive status, and extent of disease. […] Germ cell tumors are a heterogeneous group with prognosis specific to their subtype and location, but cure rates exceed 80%. Advanced or metastatic germ cell tumors tend to be relatively responsive to chemotherapy compared to other types of cancer. Even for metastatic non-seminomatous germ cell tumors of the testis, 10-year median overall survival is 70-90%. In extragonadal GCTs, 5-year median overall survival ranges from 90% for extragonadal seminoma, to 17-70% for non-seminomatous tumors.

• #24 Germ cell tumor – Wikipedia

  https://en.wikipedia.org/wiki/Germ_cell_tumor

  The 1997 International Germ Cell Consensus Classification is a prognostic tool for estimating the risk of relapse after treatment of germ-cell tumor. Access to appropriate treatment has a large effect on outcome. A 1993 study of outcomes in Scotland found that for 454 men with nonseminomatous (nongerminomatous) GCTs diagnosed between 1975 and 1989, five-year survival increased over time and with earlier diagnosis. Adjusting for these and other factors, survival was 60% higher for men treated in a cancer unit that treated the majority of these men, though the unit treated more men with the worst prognosis.

• #25 Germ cell tumors | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/germ-cell-tumours?lang=us

  Germ cell tumors are classified by their histology regardless of their location in the body. […] Generally, cystic lesions tend to be benign whereas solid lesions tend to be malignant however the final diagnosis is made histologically. […] Benign (grade 0) tumors have a risk of malignancy despite being indolent initially and require close clinical, serological, and radiological follow-up.

• #26 Testicular germ cell tumors: the changing role of the pathologist

  https://atm.amegroups.org/article/view/26967/html

  Testicular germ cell tumors (TGCTs) are a heterogeneous group of neoplasms derived from neoplastic transformation of germ cells in the testis, but with different epidemiological, biological and clinical settings, from early life to adulthood. […] The latest WHO classification of TGCTs assigns a primary taxonomic role to germ cell neoplasia in situ (GCNIS), which is considered the main precursor lesion of TGCTs. […] Based on the presence of GCNIS, in the latest WHO classification, TGCTs were divided into non-GCNIS-derived TGCTs (mainly pre-pubertal) and GCNIS-derived TGCTs (mainly post-pubertal). […] The distinction of TGCTs in GCNIS-related forms and GCNIS-unrelated forms reflects underlying pathogenetic differences. […] The American Joint Committee for Cancer (AJCC) has recently revised the histological parameters determining the staging of TGCTs.

• #26 Testicular germ cell tumors: the changing role of the pathologist

  https://atm.amegroups.org/article/view/26967/html

  Currently, the College of American Pathologists (CAP) and the International Society for Urologic Pathology recommend routine sampling and reporting of hilar neoplastic extension. […] It is still a matter of debate whether the neoplastic invasion of the rete testis plays an important role in the prognosis. […] Although there is no convincing evidence to upstage TGCTs with rete testis invasion, it is well-known that rete testis invasion correlates with higher rates of metastases in seminomas and recurrences in all TGCTs. […] Furthermore, also Yilmaz et al. observed in their series an association between the invasion of rete testis and the presence of metastatic disease. […] The hypothesis of the authors that larger tumor size in seminomas may represent a kind of predictor of extratesticular extension seems to find confirmation in another recently published study.

• #27 Testicular germ cell tumors: pathogenesis, diagnosis and treatment – PubMed

  https://pubmed.ncbi.nlm.nih.gov/21116298/

  Testicular germ cell tumors represent the most common solid malignancy of young men aged 15-40 years. […] In cases of suspicion for testicular germ cell tumor, a surgical exploration with orchiectomy is obligatory. After completion of diagnostic procedures, levels of serum tumor markers and the clinical stage based on the International Union Against Cancer tumor-node-metastasis classification should be defined. […] Patients with early-stage testicular germ cell tumors are treated by individualized risk stratification within a multidisciplinary approach. The individual management (surveillance, chemotherapy or radiotherapy) has to be balanced according to clinical features and the risk of short-term and long-term toxic effects. Treatment for metastatic tumors is based on risk stratification according to International Germ Cell Cancer Collaborative Group classification and is performed with cisplatin-based chemotherapy and residual tumor resection in cases of residual tumor lesion. High-dose chemotherapy represents a curative option for patients with second or subsequent relapses.

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

  13. Clinicians should recommend testicular radiation (18-20 Gy) or orchiectomy in patients with GCNIS or malignant neoplasm after TSS who prioritize reduction of cancer risk taking into consideration that radiation reduces the risk of hypogonadism compared to orchiectomy. (Moderate Recommendation; Evidence Level: Grade C) […] 14. Nadir serum tumor markers (AFP, hCG, and LDH) should be repeated at appropriate T1/2 time intervals after orchiectomy for staging and risk stratification. (Moderate Recommendation; Evidence Level: Grade B) […] 15. For patients with elevated AFP or hCG post-orchiectomy, clinicians should monitor serum tumor markers to establish nadir levels before treatment only if marker nadir levels would influence treatment. (Clinical Principle) […] 16. For patients with metastatic GCT (Stage IIC or III) requiring chemotherapy, clinicians must base chemotherapy regimen and number of cycles on the IGCCCG risk stratification. IGCCCG risk stratification is based on nadir serum tumor marker (hCG, AFP and LDH) levels obtained prior to the initiation of chemotherapy, staging imaging studies, and tumor histology following radical orchiectomy. (Strong Recommendation; Evidence Level: Grade A)

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

  17. In patients with newly diagnosed GCT, clinicians should obtain cross-sectional imaging of the abdomen and pelvis with IV contrast or MRI if CT is contraindicated. (Strong Recommendation; Evidence Level: Grade B) […] 18. In patients with newly diagnosed GCT, clinicians must obtain chest imaging. (Clinical Principle) […] 19. In patients with newly diagnosed GCT, clinicians should not obtain a positron emission tomography (PET) scan for staging. (Strong Recommendation; Evidence Level: Grade B) […] 20. Patients should be assigned a TNM-s category to guide management decisions. (Strong Recommendation; Evidence Level: Grade B) […] 21. Management decisions should be based on imaging obtained within the preceding 4 weeks and serum tumor markers (hCG and AFP) within the preceding 10 days. (Expert Opinion)

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

• #28 Diagnosis and Treatment of Early-Stage Testicular Cancer: AUA Guideline – American Urological Association

  https://www.auanet.org/guidelines-and-quality/guidelines/testicular-cancer-guideline

• #29 Clinical manifestations, diagnosis, and staging of testicular germ cell tumors – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-staging-of-testicular-germ-cell-tumors

  Clinical manifestations, diagnosis, and staging of testicular germ cell tumors […] Germ cell tumors (GCTs) account for 95 percent of testicular cancers (table 1). […] The clinical manifestations, diagnosis, and staging of testicular cancer will be presented here. […] The presenting manifestations of testicular cancer are attributable to metastatic disease in approximately 10 percent of patients.

• #30 Ovarian Germ Cell Tumors – UChicago Medicine

  https://www.uchicagomedicine.org/cancer/types-treatments/ovarian-cancer/ovarian-germ-cell-tumors

  Ovarian germ cell tumors can be non-cancerous (benign) or cancerous (malignant). […] Malignant OGCT make up only 5% of all ovarian cancers and are commonly diagnosed in women between 10 and 30 years of age. […] Blood tests that look for elevated tumor markers can help diagnose OGCT. The tumor markers associated with OGCT are AFP (alpha-fetoprotein), LDH (lactate dehydrogenase), and bHCG. Preoperative blood work is often performed to help confirm the concern for a germ cell tumor prior to operation. However, a definitive diagnosis is made in collaboration with our gynecologic pathologists who evaluate tissues obtained during surgery under a microscope. […] Usually, malignant OGCTs are treated with surgery. […] Generally, chemotherapy is the mainstay of treatment for recurrent ovarian germ cell tumors.

• #31 Germ Cell Tumor – American Brain Tumor Association | Learn More

  https://www.abta.org/tumor_types/germ-cell-tumor/

  Germ cells are reproductive cells in a human embryo that may travel to different parts of the body during development, such as the brain, chest, and pelvis. If these cells grow abnormally, they can become a tumor. These germ cell tumors can be either benign (non-cancerous) or malignant (cancerous). Germ cell tumors in the brain are classified into two types: […] Symptoms of germ cell tumors occurring in the central nervous system are mainly dependent on the location of the tumor if the age of the patient is post-infancy. Common symptoms of tumors in the pineal region include vision problems, headache, nausea, vomiting, difficulty walking (ataxia), and seizures. Symptoms in patients with tumors in the suprasellar region usually include hormonal issues and deficiencies. Blurred vision and behavioral abnormalities have also been noted.

• #32 Germ Cell Tumors of the Brain | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/germ-cell-brain-tumors

  Germ cell brain tumors are typically diagnosed using a combination of imaging and biopsy. As with other brain tumors, diagnostic procedures for germ cell tumors of the brain can determine the exact type of tumor and whether it has spread. […] Your child’s physician may order a number of different tests including: Physical exam and complete medical history, Magnetic resonance imaging (MRI), Computerized tomography scan (CT or CAT scan), Blood tests to check for tumor markers, Lumbar puncture (spinal tap). […] There may be other diagnostic tests that your doctor will discuss with you depending on your child’s individual situation.

• #33 What are germ cell tumours? | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/germ-cell-tumours

  Germ cell tumours develop in germ cells. These are the cells in the body that develop into sperm and eggs. Germ cell tumours most often develop in the ovary or testicle because this is where most germ cells are. […] Germ cell tumours that grow outside the ovary or testicle are very rare. Doctors call them extragonadal germ cell tumours (EGGCT). […] The main treatments are surgery and chemotherapy. Your treatment depends on your type of germ cell tumour and whereabouts it is in your body. […] The treatment for retroperitoneal germ cell tumours is similar to testicular germ cell tumours. […] Your treatment depends on: where the tumour is, the size and whether it has spread (the stage), the type of germ cell tumour. […] The main treatments are surgery and chemotherapy. […] You usually have surgery to remove germ cell tumours. This might be all the treatment you need if the tumour is small and easy to remove. […] You might have chemotherapy after surgery. Germ cell tumours generally respond very well to chemotherapy. Most people are cured. Even cancers that have spread are still very treatable with chemotherapy.

• #34 Extragonadal Germ Cell Tumors Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/278174-workup

  The tumor markers serum alpha fetoprotein (AFP) and/or the beta subunit of human chorionic gonadotropin (-hCG) are elevated in extragonadal nonseminomatous germ cell tumors. These tumor markers provide diagnostic, staging, and prognostic information. Check these levels before and then at regular intervals after therapy. The half-life of -hCG is 24 hours, and that of AFP is 4-6 days. […] Tumor marker elevation in the appropriate clinical setting makes the diagnosis of germ cell tumors highly likely. […] Chemotherapy can be initiated in these cases without tissue diagnosis if a need for immediate treatment is present.

• #35 Advancing clinical and translational research in germ cell tumours (GCT): recommendations from the Malignant Germ Cell International Consortium | British Journal of Cancer

  https://www.nature.com/articles/s41416-022-02000-4

  Nevertheless, the longitudinal collection of STM levels in blood and CSF has not typically been performed until very recent prospective clinical trials. […] Of note, microRNAs, in particular miR-371a-3p, have emerged as promising non-invasive biomarkers for GCT patients, outperforming STMs for diagnosis, risk-stratification and follow-up. […] Ideally, matched collections of relevant clinical data, imaging, and tissue and liquid biopsies are collected from the same patient. […] For GCTs, international (biobank) collaboration is the only practical way to effectively study important clinical questions such as cisplatin resistance, given the overall good outcomes for patients from this disease. […] Collections of metastatic and/or refractory/relapsed tumour samples and corresponding liquid biopsies from these patients, represents an important approach to study cisplatin resistance.

• #35 Advancing clinical and translational research in germ cell tumours (GCT): recommendations from the Malignant Germ Cell International Consortium | British Journal of Cancer

  https://www.nature.com/articles/s41416-022-02000-4

  Germ cell tumours (GCTs) are a heterogeneous group of rare neoplasms that present in different anatomical sites and across a wide spectrum of patient ages from birth through to adulthood. […] Dedicated biobank specimen collection is therefore critical to foster continuous growth in our understanding of similarities and differences by age, gender, and site, particularly for rare cancers such as GCTs. […] The determination of the STMs alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG) and lactate dehydrogenase (LDH) are important for GCT diagnosis and prognostic purposes, as well as a follow-up tool to evaluate response to therapy. […] Since these classical STMs are routinely collected for follow-up of GCT patients, drawing additional bodily fluid at those timings for biobanking will have two main advantages: avoiding extra collections for biobanking only; allowing for parallel comparison of investigational biomarkers with the standard-of-care routine biomarkers.

• #36 Human Germ Cell Tumors are Developmental Cancers: Impact of Epigenetics on Pathobiology and Clinic

  https://www.mdpi.com/1422-0067/20/2/258

  Current (high throughput omics-based) data support the model that human (malignant) germ cell tumors are not initiated by somatic mutations, but, instead through a defined locked epigenetic status, representative of their cell of origin. […] Moreover, it could also explain various epidemiological findings, including the rising incidence of this type of cancer in Western societies. In addition, it allows for identification of clinically relevant and informative biomarkers both for diagnosis and follow-up of individual patients. […] The current status of these findings will be discussed, including the use of high throughput DNA methylation profiling for determination of differentially methylated regions (DMRs) as well as chromosomal copy number variation (CNV). […] Finally, the potential value of methylation-specific tumor DNA fragments (i.e., XIST promotor) as well as embryonic microRNAs as molecular biomarkers for cancer detection in liquid biopsies will be presented.

• #37

  https://link.springer.com/article/10.1007/s00428-025-04023-7

  The aim was to standardize communication between pathologists and clinicians, which ultimately benefits patient management and research into these relatively rare tumors. […] The determination of 12p status (e.g., by fluorescence in situ hybridization) can be used to differentiate between pre- and post-pubertal-type GCT, especially in teratomas. […] The pediatric GCT classification continues to rely on the histological GCT subtypes and highlights the differences between pre- and post-pubertal-type GCT in the particular sections on teratoma and yolk sac tumor. […] The prognosis of GDS is excellent due to high sensitivity to chemotherapy and radiation with 95% 5-year survival rates in seminoma and dysgerminoma. […] Postoperative combination chemotherapy is recommended in many cases.

• #37

  https://link.springer.com/article/10.1007/s00428-025-04023-7

  Pediatric germ cell tumors represent a rare but biologically diverse group of neoplasms arising from pluripotent primordial germ cells. […] The 2022 edition of the WHO Classification of Pediatric Tumors introduced the first organ independent classification of germ cell tumors, reflecting advances in molecular biology, histopathology, and clinical practice. […] These updates enhance diagnostic accuracy and provide a framework for understanding age-dependent differences in tumor biology and behavior. […] Emphasis is placed on integrating the new classification into multidisciplinary care, particularly in addressing diagnostic challenges in pre- and post-pubertal-type germ cell tumors. […] The challenge was to take into account existing classifications and terminologies on the one hand, and to emphasize the common characteristics of this tumor class on the other.

• #38 Diagnosis and Management of Dysgerminomas with a Brief Summary of Primitive Germ Cell Tumors

  https://www.mdpi.com/2075-4418/12/12/3105

  Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. […] The preferred treatment is the surgical removal of the tumor succeeded by the preservation of fertility. […] A multidisciplinary team formed by a gynecologic oncologist, a pediatric oncologist and a pediatric surgeon, under the guidance of the Malignant Germ Cell International Consortium (MaGIC) and founded in 2009, studies this type of tumor while important organizations such as the European Society of Gynecology Oncology (ESGO) and European Society for Pediatric Oncology (SIOPE) define the standards for diagnostic, treatment and follow-up. […] The favorite treatment is the surgical removal of the tumor and the preservation of fertility, but, in the case of hermaphroditism, mixed germ cells tumor can develop, which leads to a more aggressive evolution, with a risk of malignancy in the bilateral of the gonads, which is why removal of both ovotestis is required.

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