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The histology of EST is variable, but usually includes malignant endodermal cells. These cells secrete alpha-fetoprotein (AFP), which can be detected in tumor tissue, serum, cerebrospinal fluid, urine and, in the rare case of fetal EST, in amniotic fluid. When there is incongruence between biopsy and AFP test results for EST, the result indicating presence of EST dictates treatment. This is because EST often occurs as small "malignant foci" within a larger tumor, usually teratoma, and biopsy is a sampling method; biopsy of the tumor may reveal only teratoma, whereas elevated AFP reveals that EST is also present. GATA-4, a transcription factor, also may be useful in the diagnosis of EST.
Diagnosis of EST in pregnant women and in infants is complicated by the extremely high levels of AFP in those two groups. Tumor surveillance by monitoring AFP requires accurate correction for gestational age in pregnant women, and age in infants. In pregnant women, this can be achieved simply by testing maternal serum AFP rather than tumor marker AFP. In infants, the tumor marker test is used, but must be interpreted using a reference table or graph of normal AFP in infants.
Although often described as benign, a teratoma does have malignant potential. In a UK study of 351 infants and children diagnosed with "benign" teratoma reported 227 with MT, 124 with IT. Five years after surgery, event-free survival was 92.2% and 85.9%, respectively, and overall survival was 99% and 95.1%. A similar study in Italy reported on 183 infants and children diagnosed with teratoma. At 10 years after surgery, event free and overall survival were 90.4% and 98%, respectively.
Depending on which tissue(s) it contains, a teratoma may secrete a variety of chemicals with systemic effects. Some teratomas secrete the "pregnancy hormone" human chorionic gonadotropin (βhCG), which can be used in clinical practice to monitor the successful treatment or relapse in patients with a known HCG-secreting teratoma. This hormone is not recommended as a diagnostic marker, because most teratomas do not secrete it. Some teratomas secrete thyroxine, in some cases to such a degree that it can lead to clinical hyperthyroidism in the patient. Of special concern is the secretion of alpha-fetoprotein (AFP); under some circumstances AFP can be used as a diagnostic marker specific for the presence of yolk sac cells within the teratoma. These cells can develop into a frankly malignant tumor known as yolk sac tumor or endodermal sinus tumor.
Adequate follow-up requires close observation, involving repeated physical examination, scanning (ultrasound, MRI, or CT), and measurement of AFP and/or βhCG.
Extraspinal ependymoma, usually considered to be a glioma (a type of non-germ cell tumor), may be an unusual form of mature teratoma.
EST can have a multitude of morphologic patterns including: reticular, endodermal sinus-like, microcystic, papillary, solid, glandular, alveolar, polyvesicular vitelline, enteric and hepatoid.
Schiller-Duval bodies on histology are pathognomonic and seen in the context of the endodermal sinus-like pattern.
Ganglioneuromas can be diagnosed visually by a CT scan, MRI scan, or an ultrasound of the head, abdomen, or pelvis. Blood and urine tests may be done to determine if the tumor is secreting hormones or other circulating chemicals. A biopsy of the tumor may be required to confirm the diagnosis.
GCNIS is not palpable, and not visible on macroscopic examination of testicular tissue. Microscopic examination of affected testicular tissue most commonly shows germ cells with enlarged hyperchromatic nuclei with prominent nucleoli and clear cytoplasm. These cells are typically arranged along the basement membrane of the tubule, and mitotic figures are frequently seen. The sertoli cells are pushed toward the lumen by the neoplastic germ cells, and spermatogenesis is almost always absent in the affected tubules. Pagetoid spread of GCNIS into the rete testis is common. Immunostaining with placental alkaline phosphatase (PLAP) highlights GCNIS cell membranes in 95 percent of cases. OCT3/4 is a sensitive and specific nuclear stain of GCNIS.
Management of most fetal SCTs involves watchful waiting prior to any treatment. An often used decision tree is as follows:
- Perform detailed ultrasound exam including fetal echocardiogram and Doppler flow analysis
- If fetal high output failure, placentomegaly, or hydrops
- If fetus not mature, perform pregnancy termination or fetal intervention
- Else fetus mature, perform emergency Cesarean section
- Else no emergent problems, perform serial non-stress tests and ultrasound biophysical profiles and plan delivery, as follows
- If emergent problems develop, return to top of decision tree
- Else if SCT over 5–10 cm or polyhydramnios, perform early (37 weeks gestation) elective Cesarean section
- Else SCT small and no complications, permit term spontaneous vaginal delivery
Emergent problems include maternal mirror syndrome, polyhydramnios, and preterm labor. Poor management decisions, including interventions that are either premature or delayed, can have dire consequences. A very small retrospective study of 9 babies with SCTs greater than 10 cm diameter reported slightly higher survivorship in babies remaining in utero slightly longer.
In many cases, a fetus with a small SCT (under 5 or 10 cm) may be delivered vaginally. Prior to the advent of prenatal detection and hence scheduled C-section, 90% of babies diagnosed with SCT were born full term.
SCTs are very rare in adults, and as a rule these tumors are benign and have extremely low potential for malignancy. This estimation of potential is based on the idea that because the tumor existed for decades prior to diagnosis, without becoming malignant, it has little or no potential to ever become malignant. For this reason, and because coccygectomy in adults has greater risks than in babies, some surgeons prefer not to remove the coccyx of adult survivors of SCT. There are case reports of good outcomes.
The 1997 International Germ Cell Consensus Classification is a tool for estimating the risk of relapse after treatment of malignant germ cell tumor.
A small study of ovarian tumors in girls reports a correlation between cystic and benign tumors and, conversely, solid and malignant tumors. Because the cystic extent of a tumor can be estimated by ultrasound, MRI, or CT scan before surgery, this permits selection of the most appropriate surgical plan to minimize risk of spillage of a malignant tumor.
Access to appropriate treatment has a large effect on outcome. A 1993 study of outcomes in Scotland found that for 454 men with non-seminomatous (non-germinomatous) germ cell tumors diagnosed between 1975 and 1989, 5-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, even though the unit treated more men with the worst prognosis.
Choriocarcinoma of the testicles has the worst prognosis of all germ cell cancers
Some tests which detect cancer could be called "screening for epithelial dysplasia". The principle behind these tests is that physicians expect dysplasia to occur at the same rate in a typical individual as it would in many other people. Because of this, researchers design screening recommendations which assume that if a physician can find no dysplasia at certain time, then doing testing before waiting until new dysplasia could potentially develop would be a waste of medical resources for the patient and the healthcare provider because the chances of detecting anything is extremely low.
Some examples of this in practice are that if a patient whose endoscopy did not detect dysplasia on biopsy during screening for Barrett's esophagus, then research shows that there is little chance of any test detecting dysplasia for that patient within three years.
Individuals at average-risk for colorectal cancer should have another screening after ten years if they get a normal result and after five years if they have only one or two adenomatous polyps removed.
Women with benign germ cell tumors such as mature teratomas (dermoid cysts) are cured by ovarian cystectomy or oophorectomy. In general, all patients with malignant germ cell tumors will have the same staging surgery that is done for epithelial ovarian cancer. If the patient is in her reproductive years, an alternative is unilateral salpingoophorectomy, while the uterus, the ovary, and the fallopian tube on the opposite side can be left behind. This isn't an option when the cancer is in both ovaries. If the patient has finished having children, the surgery involves complete staging including salpingoophorectomy on both sides as well as hysterectomy.
Most patients with germ cell cancer will need to be treated with combination chemotherapy for at least 3 cycles. The chemotherapy regimen most commonly used in germ cell tumors is called PEB (or BEP), and consists of bleomycin, etoposide, a platinum-based antineoplastic (cisplatin).
Most ganglioneuromas are noncancerous, thus expected outcome is usually good. However, a ganglioneuroma may become cancerous and spread to other areas, or it may regrow after removal.
If the tumor has been present for a long time and has pressed on the spinal cord or caused other symptoms, it may have caused irreversible damage that cannot be corrected with the surgical removal of the tumor. Compression of the spinal cord may result in paralysis, especially if the cause is not detected promptly.
The diagnosis of SCLC, TC and AC can be made by light microscopy without the need for special tests in most cases, but for LCNEC it is required to demonstrate NE differentiation by immunohistochemistry or electron microscopy.
MEM comprises a heterogeneous group of neoplasms believed to originate from the neural crest. First hints to this type of tumor were probably from Shuangshoti and Nestky (1971) and from Holimon and Rosenblum (1971) (2-3). Additional contributions were provided thereafter by Naka et al. (1975), Karcioglu et al. (1977), Cozzutto et al. (1982) and Kawamoto et al. (1987).
Kosem et al. collected 44 cases of MEM in a 2004 review and examined management data finding out that resection with pre- or post-surgery chemotherapy yielded the best results with one death only in 13. In the five cases reported by Mouton et al. an aggressive chemotherapy and adequate surgical excision granted a disease-free interval for 7 to 50 months. The attainability of radical surgical
ablation seems the most important prognostic factor (10).
Multiple endocrine neoplasia type I (MEN1)can be found in carcinoid tumor patients, but not those with LCNEC and SCLC.
GCNIS is generally treated by radiation therapy and/or orchiectomy. Chemotherapy used for metastatic germ cell tumours may also eradicate GCNIS.
Polyembryoma is a rare, very aggressive form of germ cell tumor usually found in the ovaries. Polyembryoma has features of both yolk sac tumour and undifferentiated teratoma/embryonal carcinoma, with a characteristic finding of embryoid bodies lying in a loose mesenchymal stroma.
It has been found in association with Klinefelter syndrome.
Fibrosarcoma occurs most frequently in the mouth in dogs . The tumor is locally invasive, and often recurs following surgery . Radiation therapy and chemotherapy are also used in treatment. Fibrosarcoma is also a rare bone tumor in dogs.
In cats, fibrosarcoma occurs on the skin. It is also the most common vaccine-associated sarcoma. In 2014, Merial launched Oncept IL-2 in Europe for the management of such feline fibrosarcomas.
An immature teratoma is a rare type of malignant (cancerous) germ cell tumor (type of tumor that begins in the cells that give rise to sperm or eggs).
Like a mature teratoma, it contains several different types of tissue such as hair, muscle, and bone. Unlike a mature teratoma, it contains primitive neuroepithelium.
Ancillary testing for fibrosarcoma includes IHC, where vimentin is positive, cytokeratin and S100 are negative, and actin is variable.
Medulloblastomas affect just under two people per million per year, and affect children 10 times more than adults. Medulloblastoma is the second-most frequent brain tumor in children after pilocytic astrocytoma and the most common malignant brain tumor in children, comprising 14.5% of newly diagnosed cases. In adults, medulloblastoma is rare, comprising fewer than 2% of CNS malignancies.
The rate of new cases of childhood medulloblastoma is higher in males (62%) than females (38%), a feature which is not seen in adults. Medulloblastoma and other PNET`s are more prevalent in younger children than older children. About 40% of medulloblastoma patients are diagnosed before the age of five, 31% are between the ages of 5 and 9, 18.3% are between the ages of 10 and 14, and 12.7% are between the ages of 15 and 19.
The main features of this tumor is to comprise either ectodermal derivatives (neuroblasts and ganglion cells) or mesenchymal components mostly represented by plump, elongated cells in interlacing bundles often showing rhabdomyoblastic differentiation, including strap-like and racket-shaped cells (2-6). A myofibril-like structure and cross striations can be identified. Liposarcoma-like and chondroid foci can be an additional finding. Fibrosarcoma-like and fibrous histiocytoma-like areas can be observed as well as neurofibromatous and neuroblastic components with rosette formation. Ganglion cells can appear immature and atypical, they can be bi- or multinucleated and showing evidence of Nissl substance (2-6).
Rhabdomyoblasts and poorly differentiated small cells display positivity for desmin and myosin while neural areas are variably sensitive to S-100. Ganglion cells are strongly positive for NSE. It is important to point out that the ectodermal component may be sometimes scanty and can be overlooked whereas in specimens after chemotherapy the ganglioneuroma component is increased and even overwhelming.
Differential diagnosis should consider rhabdomyosarcoma, Triton tumor, teratoma, Wilms tumor and benign, mature ectomesenchymoma (ectomesenchymal hamartoma).
The cumulative relative survival rate for all age groups and histology follow-up was 60%, 52%, and 47% at 5 years, 10 years, and 20 years, respectively. Patients diagnosed with a medulloblastoma or PNET are 50 times more likely to die than a matched member of the general population.
The most recent population-based (SEER) 5-year relative survival rates are 69% overall, but 72% in children (1–9 years) and 67% in adults (20+ years). The 20-year survival rate is 51% in children. Children and adults have different survival profiles, with adults faring worse than children only after the fourth year after diagnosis (after controlling for increased background mortality). Before the fourth year, survival probabilities are nearly identical. Longterm sequelae of standard treatment include hypothalamic-pituitary and thyroid dysfunction and intellectual impairment. The hormonal and intellectual deficits created by these therapies causes significant impairment of the survivors.
Treatment is varied and depends on the site and extent of tumor involvement, site(s) of metastasis, and specific individual factors. Surgical resection, radiotherapy, and chemotherapy have all been used to treat these masses, although studies on survival have yet to be conducted to delineate various treatment regimens.
A Sertoli cell nodule, also Pick's adenoma, testicular tubular adenoma and tubular adenoma of the testis, is a benign proliferation of Sertoli cells that arises in association with cryptorchidism (undescended testis). They are not composed of a clonal cell population, i.e. neoplastic; thus, technically, they should not be called an "adenoma".