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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.
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.
The diagnostic process typically begins with a medical history workup followed by a medical examination by a physician. Imaging tests, such as CT scans and MRIs, help provide a clearer picture. The physician typically looks for fluid (or other bodily substance) filled sacs to appear in the scans, as is shown in the CT scan of a colloid cyst. A primary health care provider will refer an individual to a neurologist or neurosurgeon for further examination. Other diagnostic methods include radiological examinations and macroscopic examinations. After a diagnosis has been made, immunohistochemistry may be used to differentiate between epithelial cysts and arachnoid cysts. These examinations are useful to get a general idea of possible treatment options, but can be unsatisfactory to diagnose CNS cysts. Professionals still do not fully understand how cysts form; however, analyzing the walls of different cyst types, using electron microscopes and light microscopes, has proven to be the best diagnostic tool. This has led to more accurate cyst classification and correct course of action for treatments that are cyst specific. In the past, before imaging scans or tests were available, medical professionals could only diagnose cysts via exploratory surgery.
Extraspinal ependymoma, usually considered to be a glioma (a type of non-germ cell tumor), may be an unusual form of mature teratoma.
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.
Imaging studies are performed before surgery or biopsy to preclude an intracranial connection. Images usually show a sharply circumscribed but expansile mass. It may be difficult to exclude the intracranial connection if the defect is small whether employing computed tomography or magnetic resonnance.
The most common missed lesion is within the nasal cavity, where a fibrosed nasal polyp may be considered. However, it does not have glial tissue. Further, a polyp usually has mucoserous glands. The lesion is frequently misintrepreted as scar in the subcutaneous tissues, but scar in a <2 year old child would be uncommon. Special stains are frequently required to highlight the diagnosis.
Treatment for dermoid cyst is complete surgical removal, preferably in one piece and without any spillage of cyst contents. Marsupialization, a surgical technique often used to treat pilonidal cyst, is inappropriate for dermoid cyst due to the risk of malignancy.
The association of dermoid cysts with pregnancy has been increasingly reported. They usually present the dilemma of weighing the risks of surgery and anesthesia versus the risks of untreated adnexal mass. Most references state that it is more feasible to treat bilateral dermoid cysts of the ovaries discovered during pregnancy if they grow beyond 6 cm in diameter.
A small dermoid cyst on the coccyx can be difficult to distinguish from a pilonidal cyst. This is partly because both can be full of hair. A pilonidal cyst is a pilonidal sinus that is obstructed. Any teratoma near the body surface may develop a sinus or a fistula, or even a cluster of these. Such is the case of Canadian Football League linebacker Tyrone Jones, whose teratoma was discovered when he blew a tooth out of his nose.
A neurosurgeon performs a craniotomy as a means of entry to access the cyst. The cyst is then opened to release its contents, which are reabsorbed by the brain. This is commonly used with inflammatory cysts located in the ventricles, and can result in increased ventricular fluid flow within the brain.
A pilonidal cyst can resemble a dermoid cyst, a kind of teratoma (germ cell tumor). In particular, a pilonidal cyst in the gluteal cleft can resemble a sacrococcygeal teratoma. Correct diagnosis is important because all teratomas require complete surgical excision, if possible without any spillage, and consultation with an oncologist.
Large and especially giant congenital nevi are at higher risk for malignancy degeneration into melanoma. Because of the premalignant potential, it is an acceptable clinical practice to remove congenital nevi electively in all patients and relieve the nevocytic overload.
These lesions usually present in neonates, although they may not come to clinical attention until adulthood (for cosmetic reasons). There is no gender predilection. They are present in approximately 3-6 per 1000 live births.
Simple surgical excision is curative. The recommended treatment is that the skin is peeled off the extra-auricular tissue and protruding cartilage remnants are trimmed. Normal appearance is achieved in majority of cases. The reconstruction successful in true cases of accessory auricle, as it also is in individuals with auricular appendages.
Benign congenital nevi can have histological characteristics resembling melanomas, often breaking most if not all of the ABCDE rules. Dermatoscopic findings of the smaller forms of benign congenital nevi can aid in their differentiation from other pigmented neoplasms.
Microscopically, congenital melanocytic nevi appear similar to acquired nevi with two notable exceptions. For the congenital nevus, the neval cells are found deeper into the dermis. Also, the deeper nevus cells can be found along with neurovascular bundles, with both surrounding hair follicles, sebaceous glands, and subcutaneous fat. Such annexes and the hypodermis can also be hypoplasic or, conversely, present aspects of hamartoma.
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.
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.
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.
The radiological features of myositis ossificans are ‘faint soft tissue calcification within 2–6 weeks, (may have well-defined
bony margins by 8 weeks) separated from periosteum by lucent zone and on CT, the characteristic feature is peripheral ossification’.
The disorder is an autosomal dominant genetic trait caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis. The study was published on the American Journal of Human Genetics.
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.
The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and (3) there are malformations of the anus or rectum. It can also cause an anterior meningocele or a presacral teratoma.
Presacral teratoma usually is considered to be a variant of sacrococcygeal teratoma. However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind.
The ultrasound (US) features of struma ovarii are nonspecific, but a heterogeneous, predominantly solid mass may be seen. US demonstrates a complex appearance with multiple cystic and solid areas, findings that reflect the gross pathologic appearance of the tumor.
Magnetic resonance imaging findings may be more characteristic: The cystic spaces demonstrate both high and low signal intensity on T1- and T2-weighted images. Some of the cystic spaces may demonstrate low signal intensity on both T1- and T2-weighted images due to the thick, gelatinous colloid of the struma. No fat is evident in these lesions.
Treatment may include antibiotic therapy, hot compresses and application of depilatory creams. In more severe cases, the cyst may need to be lanced or treated surgically. Lancing is performed using a local anesthesia, with healing time generally under one week. The most conservative surgical treatment, Bascom's Pit Picking procedure, is a relatively simple outpatient option that can be performed in a physician's office, involves minimal pain and requires only a few days healing. Although this procedure is much less invasive than the alternatives, it is not regularly practiced in the US. The Pit Picking procedure provides good results, fast recovery, and in instances where it is unsuccessful, other options for more invasive surgery can still be performed.
The more common course for surgical treatment is for the cyst to be surgically excised (along with pilonidal sinus tracts). Post-surgical wound packing may be necessary, and packing typically must be replaced once daily for 4 to 8 weeks. In some cases, two years may be required for complete granulation to occur. Sometimes the cyst is resolved via surgical marsupialization.
Surgeons can also excise the sinus and repair with a reconstructive flap technique, such as a "cleft lift" procedure or Z-plasty, usually done under general anesthetic. This approach is especially useful for complicated or recurring pilonidal disease, leaves little scar tissue and flattens the region between the buttocks, reducing the risk of recurrence. This approach typically results in a more rapid recovery than the traditional surgery, however there are fewer surgeons trained in the cleft lift procedure and thus, it may not be as accessible to patients, depending on their geographic location. Meta analysis shows recurrence rates were lower in open healing than with primary closure (RR 0.60, 95% CI 0.42 to 0.87) at the expense of time to healing. Pilonidal cysts recur and do so more frequently if the surgical wound is sutured in the midline, as opposed to away from the midline, which obliterates the natal cleft and removes the focus of shearing stress. An incision lateral to the intergluteal cleft is therefore preferred, especially given the poor healing of midline incisions in this region.
An attractive minimally invasive technique is to treat pilonidal sinus with fibrin glue. This technique is less painful than traditional excisional techniques and flaps, can be performed under local or general anaesthesia, does not require dressings or packing and allows return to normal activities within 1 to 2 days. Long term outcome and recurrence rates are not dissimilar to more invasive techniques in 5 year follow up in a small randomised controlled trial.
Fibrin glue has also been shown to be better than more invasive alternatives in the treatment of pilonidal sinus disease in children, where a quick return to normal activities and minimal postoperative pain are especially important.
A minimally invasive surgical technique, was developed in Israel by Moshe Gips et al.,2008. and is similar to the pit picking technique first described by Bascom in 1980 In this procedure, trephines or biopsy punches which only "core out" and remove the diseased tissue and cyst are used, leaving only small holes to heal. Work or school activities will be resumed in one or two days, without or with minimal postoperative pain. The two procedures have been successfully combined by L. Basso in Rome (Italy).
While the recovery rate is positive for most, some suffer long term effects. Recorded instances include patients with continued postoperative pain for years following the surgical procedure. Primary complaints included pain when sitting for long period of times or following abrasive contact with the lower back and buttocks.
Pineocytoma, also known as a pinealocytoma, is a benign, slowly growing tumor of the pineal gland. Unlike the similar condition pineal gland cyst, it is uncommon.