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Teratoma

Extragonadal Teratoma

Teratomas are rare congenital tumors derived from embryonic germ cells.


Presentation

Beyond the newborn period, symptoms of teratomas depend on its location and organ of origin. Symptoms are caused by extension and interference with surrounding tissue and organs. They may extend into the pelvis and abdominal cavity causing compression and obstruction of internal organs, and interruption of blood flow in the region [8]. Symptoms may include [6]:

  • Pain: abdominal, epigastric, lower lumbar, head, and neck
  • Palpable mass found on physical examination
  • Visible tumor 

Teratomas most often have a midline presentation. Sacrococcygeal teratomas account for approximately 40% of all teratomas [3]. Other common locations include the gonads, anterior mediastinum, and retroperioneum. Even less frequently they appear in the brain, heart, pharynx and pleura [8].

Developmental Delay
  • A survivor of nasopharyngeal/orbital teratoma has hydrocephalus, developmental delay, and unilateral visual loss. A survivor of a teratoma in a meningo-myelocoele is paraplegic.[doi.org]
Loss of Hair
  • It belongs to a family of compounds called anthraquinones, which have shown anti-inflammatory and anticancer effects. alopecia listen (A-loh-PEE-shuh) The lack or loss of hair from areas of the body where hair is usually found.[cancer.gov]
Exertional Dyspnea
  • We report a case of a 20-year-old white man with an immature teratoma who presented with progressive exertional dyspnea.[ncbi.nlm.nih.gov]
Nasal Congestion
  • A 27-year-old woman was referred to our hospital for headache, nasal congestion, and decreased olfactory sensation. Imaging showed a mass measuring approximately 5 cm   4 cm in the right frontal lobe, which also filled the right nasal cavity.[ncbi.nlm.nih.gov]
Loss of Appetite
  • People with anorexia nervosa have an abnormal loss of appetite for food, try to avoid eating, and eat as little as possible.[cancer.gov]
Tachycardia
  • We describe the case of a 17-year old girl who presented with acute onset psychosis, catatonic movements, urinary incontinence, fever, tachycardia, and fluctuating periods of hypotension and hypertension.[ncbi.nlm.nih.gov]
Systolic Murmur
  • During a cardiac examination, an ejection systolic murmur was observed, and echocardiography findings at an Emergency Centre revealed high velocity flow at the level of the pulmonary artery, indicating pulmonary stenosis.[ncbi.nlm.nih.gov]
Macroglossia
  • A long follow-up is essential to monitor macroglossia, open bite, and the development of the mandible.[ncbi.nlm.nih.gov]
Sparse to No Body Hair
  • Klinefelter Syndrome Pediatrics: Genetics and Metabolic Disease 07/31/2007 In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and ...[web.archive.org]
Hirsutism
  • A 31-year-old woman visited our hospital with hirsutism, hoarseness, and hair loss from the scalp.[ncbi.nlm.nih.gov]
Persecutory Delusion
  • The previous symptoms were followed by disorientation, persecutory delusion, incoherent language, and tonic-clonic seizure. The patient was admitted in the intensive care unit (ICU) with Glasgow score 7.[ncbi.nlm.nih.gov]
Secondary Amenorrhea
  • Secondary amenorrhea is defined as... Cardiac Neoplasms, Primary Medicine, Ob/Gyn, Psychiatry, and Surgery 04/05/2006 Cardiac Neoplasms, Primary - The most common primary cardiac tumor is the atrial myxoma, which accounts for 40-50% of all these ...[web.archive.org]
Primary Amenorrhea
  • Amenorrhea Medicine, Ob/Gyn, Psychiatry, and Surgery 05/17/2005 Amenorrhea - Primary amenorrhea is defined as the failure of menses to occur by age 16 years. Secondary amenorrhea is defined as...[web.archive.org]
Vaginal Discharge
  • We report an unusual case of a 1-year-old girl who presented with persistent vaginal discharge leading to diagnosis of a mucosal polypoid lesion of the vagina, ultimately revealing a hidden sacrococcygeal teratoma.[ncbi.nlm.nih.gov]
Oscillopsia
  • Opsoclonus-myoclonus syndrome (OMS) is a brainstem/cerebellar syndrome producing disabling multi-directional saccadic oscillations with oscillopsia, with or without somatic myoclonus and cerebellar ataxia (Wong et al., 2001; Armangué et al., 2016).[ncbi.nlm.nih.gov]

Workup

Diagnosis of teratomas is made primarily by the presence of a mass or tumor containing bone or other tissue fragments through imaging studies and elevated serum tumor markers.

Imaging studies

  • Ultrasound (US) with Doppler is the usual method of initial diagnosis. They can identify the location, content and possible hemodynamics of the tumor [8]. 
  • Magnetic resonance imaging (MRI) may be even more accurate for assessment of the tumor [8]. 
  • (18F) Fluorodeoxyglucose Positron Emission Tomography (PET) scans provide additional information to detect residual germ cell or mass [16].

The presence of calcification or bony structures within any mass is diagnostic of teratomas, but are only present in a minority of cases [10].

Laboratory studies

Elevated serum levels of (AFP) and b-human chorionic gonadotropin (b-HCG) occur in patients with malignant germ cell tumors [14].

In immature teratomas, AFP serum levels are elevated in 30–60% of patients, but not all. It is, therefore, not a reliable diagnostic tool. AFP serum levels may also be elevated in patients with mature teratomas but are weaker [14].

Levels of a-fetoprotein AFP may return to and remain normal even when the tumor has recurred [15].

Biopsy/histologic examination of resected tumor

Teratomas, regardless of site, have a similar gross appearance and are well circumscribed [3]. Cross sections, shows diverse tissue types. Two or more embryonic germ layers are present in 90% of cases [3]. Mature teratomas are more frequently fluid filled, entirely or partially [3].

Mediastinal Mass
  • A chest X-ray revealed a mediastinal mass, and repeated echocardiography indicated the presence of a large mediastinal mass compressing his main pulmonary artery.[ncbi.nlm.nih.gov]
  • Abstract Mediastinal teratomas are a rare, albeit an important differential diagnosis of anterior/middle mediastinal masses in young adults and various atypical presentations have been reported.[ncbi.nlm.nih.gov]
  • After the therapeutic abortion, the gross anatomy confirmed the mediastinal mass. The histological examination showed that the mass was a grade 2 immature teratoma.[ncbi.nlm.nih.gov]
  • They account for approximately 15% of anterior mediastinal masses in adults and approximately 25% of anterior mediastinal masses in children. They are by far the most common mediastinal germ cell tumor, accounting for 50-70% of such tumors 9.[radiopaedia.org]
  • Videothoracoscopy for the management of mediastinal mass lesions. Surg Endosc. 1996 Jul. 10 (7):715-7. [Medline]. Paul S, Lee PC, Altorki NK, Stiles BM, Port JL.[emedicine.medscape.com]

Treatment

The treatment of patients with teratomas should be based on the histology of the tumor. Standard treatment for primary teratoma is complete surgical resection. There are, however, currently no standards for adjuvant therapy [4] [9]. Teratomas, especially those with malignant transformation, are usually resistant to chemotherapy [4].

Surgery

The treatment of choice for all teratomas is complete surgical resection [3] [10]. However, removal of all germ cell material is difficult and results in the high rate of recurrence. The most powerful predictor of patient outcome is the completeness of resection [1] [10].

Minimally invasive antenatal surgical procedures for fetal teratomas may improve outcomes, prevent intrauterine death and preterm delivery [1].

Radiotherapy

This procedure is often used following surgical resection for malignant teratomas or teratomas with the potential of becoming malignant. It is used either alone or in conjunction with chemotherapy.

Chemotherapy

For malignant teratomas surgery is usually followed by chemotherapy. Recent studies report that chemotherapy in conjunction with radiotherapy may increase the duration and rate of survival in patients with immature teratoma [1] [9]. Cisplatin/carboplatin-based drugs have proven to be the most effective chemotherapy medications for these tumors [9]. Cisplatinum therapy results in long-term remissions in approximately 80% of patients with teratomas [7] [16]. Teratomas that are not accessible surgically, are complex, or likely to be malignant may be treated with chemotherapy first.

Follow-up

Although often described as benign, teratomas do have the potential to become malignant and the recurrence rate even in mature teratomas is as high as 40% [16]. Follow-up examinations should be performed frequently by measuring the tumor markers, AFP and b-HCG [10] repeated imaging to detect recurrence [10]. Teratomas may result in significant morbidity, either due to the malignancy or as a result of the surgery, radiation, or chemotherapy [8]. Careful long-term follow-up is necessary for early identification and treatment of complications [8]. With microscopically complete tumor resection, adjuvant chemotherapy or radiotherapy is not required [10] [15]. The difficulty lies in determining absolutely that there are no residual tumor cells remaining. 

Prognosis

Prognosis is good for primary, benign teratomas with complete resection approximately 92-100% [1] [4] [15]. Patients with mature teratoma with germinoma have a 5-year survival rate of 68% [9] [12]. The poor prognosis in teratomas, can be attributed to the high rate of recurrence. The addition of chemotherapy has improved prognosis [9].

Histology and primary site have a significant impact on survival rates for patients with malignant germ cell tumors [15]. Treatment recommendations should be based on the histologic type. In patients with mature teratoma complete surgical resection produce excellent results. Resection and radiotherapy have been used as well [9].

Several recent studies show that chemotherapy may improve the overall duration and rate of survival when used in conjunction with radiotherapy as [12]. Cisplatin/carboplatin-based chemotherapy is the drug of choice.

Complete clinical remission is defined as normal levels found residual tumors in up to 40% of patients even when tumor markers return to normal. Most relapses occur within two to five years of diagnosis [12]. More than 90% of relapses occur at the site of the original tumor[8].

Fetal teratomas result in perinatal mortality of 25% to 37% [7]. In fetuses with fast growing, solid and vascularized teratomas the mortality rate is even higher. These lesions cause cardiac failure due the increased vascular needs of the tumor.

Several variables have been identified that pin point patients at high-risk for disease recurrence. These include primary tumor of the mediastinum, increased tumor burden, and immature teratoma histology [15].

Etiology

The word teratoma comes from the Greek "teratos" meaning monster and denotes the tortuous or malformed appearance of the tumor [3].

Teratomas are divided into three subgroups according to the extent of differentiation in the tumor cells. The three types are mature teratomas, immature teratomas, and mixed or teratoma with malignant transformation [9].

Epidemiology

Teratomas are derived from embryonic germ cells and are present at birth [2], though often not found until adulthood. The peak incidence is 20 to 30 years of age [9]. Retroperitoneal teratomas tend to occur in early childhood and are rarely seen in adults [1].

The overall incidence of teratoma is estimated to be 0.9 per 100,000 in children [5]. Approximately 2.9% of all malignant tumors in children are malignant germ-cell tumors [10].

The incidence of teratoma is higher in females, but the risk of malignant teratoma is higher in males [10].

The distribution of teratomas is reported as 26% in the sacrococcygeal region, 24% in ovaries, 18% in testes and 18% in the brain [10] [11].

Mature, benign teratomas are the most frequent form, accounting for approximately 54.5 %. Immature malignant teratomas account for about 45.5 %.

Sex distribution
Age distribution

Pathophysiology

Teratomas are not well understood. The pathophysiology of teratomas depends on several factors, patient age at diagnosis, sex, tumor site, and cell histology, which result in different cytogenetic and molecular abnormalities [11]. Teratomas originate from two or more germ cell layers (endoderm, ectoderm, or mesoderm) and may be histologically diverse [12]. Teratomas are thought to arise from primordial germ cells. These cells undergo physiologic alterations that change their gametogenesis in the developing gonad [13] [3] [6]. Teratomas are thought to be present at birth (congenital), but small ones are often not discovered until much later in life.

There are three histologic variations of teratoma: mature, benign teratomas, immature, malignant teratomas, and mature teratoma with germinoma [12].

Mature teratomas are benign. They do not infiltrate adjacent organs and can be resected completely. These tumors are often cystic lined with mature squamous epithelium [14]. Their walls may contain various tissues, cartilage, bone, nerve tissues or organ tissue [12] [14]. Mature teratomas with germinoma can grow extensively, recur, and, in some cases, transform into malignancies [12].

Immature teratomas are usually malignant and can metastasize and recur. They are usually solid masses and contain various tissues [6] [12].

Teratomas are also classified according to the Gonzalez-Crussi [6] grading system, a cancer staging system. Teratomas are classified as: 0 - mature (benign); 1- immature, probably benign; 2 - immature, possibly malignant (cancerous); or 3 - frankly malignant [9].

Teratomas are also classified by their content: solid teratomas contain only tissue; cystic teratomas contain only fluid; mixed teratomas containing both solid and cystic components.

Teratomas have their origin in totipotential cells, normally present in the ovary and testes [8], as a result certain hormones are often elevated when teratomas are present. These can be used as tumor markers and include serum α-fetoprotein (AFP), β-human chorionic gonadotropin (β-hCG), CA-125, and CA15-3 [1].

Prevention

There is currently no way to prevent the occurrence of teratomas, as their cause is not understood. The impact, morbidity, and mortality associated with the disorder may be decreased by early identification and treatment of the tumors.

Routine fetal screening programs, fetal ultrasound with Doppler and magnetic resonance imaging, allow for prenatal diagnosis of some forms of teratoma [8]. They may go a long way to avoid intrauterine fetal death and serious fetal and maternal complications [11].

Summary

Teratomas are rare congenital tumors consisting germ cell components of various tissue types. They often contain all three dermal layers: ectoderm, endoderm and mesoderm [1] [2], as well as bone, and organs [3] [4]. Teratomas are present at birth, but are often not discovered until much later [4] [5].

Most teratomas are benign, but they can be innately malignant or have the potential to transform to a malignant form [5]. Even benign teratomas grow aggressively and extend into the surrounding tissue causing damage to the nearby organs and tissue obstructing blood flow [6] [7].

Teratomas can present at any age, including during the fetal and newborn periods resulting in fetal or neonatal death, premature birth, and maternal problems [8].

Malignant teratomas are often resistant to radiotherapy and chemotherapy. The only consistently effective treatment is complete tumor resection. Recurrence is common occurring in 40% of cases.

Patient Information

What are teratomas?

Teratomas are a rare form of tumor which contain embryonic germ cells, cells with the ability to become other tissues. They may contain all three dermal layers, bone, or components of other organs. Teratomas are congenital, present at birth, and are often diagnosed in the fetus or newborn. There are three types of teratoma: mature teratomas which are benign, immature teratomas which are cancerous, and mature teratomas with the ability to transform into the malignant form.

What are the symptoms of teratomas?

The symptoms of teratomas depend on the location, size, and degree they invade surrounding tissue and organs. Symptoms include:

  • Pain
  • Mass or tumor
  • Swelling
  • Obstructed blood flow

What causes teratomas?

The cause of teratomas is not known. They are thought to be the result the abnormal development of embryonic germ cells.

Who develops teratomas?

Teratomas can occur in anyone. Peak age at diagnosis is 20 – 30 years of age. They are more common in females than males. Incidence is not affected by race or ethnicity.

How are teratomas diagnosed?

There are two ways of diagnosing teratomas:

  • Imaging - X-ray, ultrasound with Doppler, magnetic resonance imaging (MRI), or Positron Emission Tomography (PET).
  • Blood work for two fetal hormones that are tumor markers.

How are teratomas treated?

All types of teratomas are treated first by complete surgical removal of the tumor. This may be all that is needed for mature, benign teratomas. Mature teratomas with the potential for becoming malignant may benefit from the addition of radiotherapy after surgery. Immature, malignant, teratomas are usually treated with radiotherapy and chemotherapy.

What are the complications of teratomas?

Teratomas recur in approximately 40% of patients.
Complications of teratomas are related to the effects of the treatment: surgical intervention, radiotherapy, and chemotherapy. Other complications may result from the invasion into the surrounding tissue and organs, and obstruction of blood flow caused by the tumor itself.

What can we do to prevent the complications of teratomas?

The recurrence and complications of teratomas can be prevented by early detection and treatment of the tumors and frequent follow-up.

References

Article

  1. Chu P-Y, Teng T-H, Lee C-C, Chou Y-Y. Adenocarcinomas arising from primary retroperitoneal teratoma in an adult female patient. International Journal of Urology. 2006; 13: 1352–1354.
  2. Van Mieghem T, Al-Ibrahim A, Deprest J, Lewi L, Langer LC, Baud D, et al. Minimally invasive therapy for fetal sacrococcygeal teratoma: case series and systematic review of the literature. Ultrasound Obstet Gynecol 2014; 43: 611–619
  3. Tapper D, Lack EE. Teratomas in Infancy and Childhood :A 54-Year Experience at the Children's Hospital Medical Center. Ann. Surg. 1983; 198(3):398-410.
  4. Chu P-Y, Teng T-H, Lee C-C, Chou Y-Y. Adenocarcinomas arising from primary retroperitoneal teratoma in an adult female patient. International Journal of Urology (2006) 13, 1352–1354
  5. Lee HM, Song SY, Park JO, Kim B-H. Primary immature teratoma of the prostate with angiosarcoma component: Its unusual response to chemotherapy. International Journal of Urology (2006) 13, 305–307.
  6. Elw N, Porcu P, Loehrer PJ. Sacrococcygeal Teratoma in Adults Case Reports and a Review of the Literature. Cancer. 1999;86(7): 1198-2003.
  7. Mieghem TV, Al-Ibrahim A, Deprest J, Lewi L, Langer JC, Baud D, et al. Minimally invasive therapy for fetal sacrococcygeal teratoma: case series and systematic review of the literature. Ultrasound Obstet Gynecol. 2014; 43: 611–619.
  8. Gucciardo L, Uyttebroek A, DeWever I, Renard M, Claus F, Devlieger R, et al. Prenatal assessment and management of sacrococcygeal teratoma. Prenat Diagn 2011; 31: 678–688.
  9. Ogawa K, Toita T, NakamuraK , Uno T, Onishi H, Itami J, Shikama N, Saeki N, et al. Treatment and Prognosis of Patients with Intracranial Nongerminomatous Malignant Germ Cell Tumors. Cancer. 2003; 98(2): 369-78.
  10. Gobel U, Schneider DT, Calaminus G, Haas RJ, Schmidt P, Harms D. Germ-cell tumors in childhood and adolescence. Annals of Oncology. 2000;11: 263-271.
  11. Harms D, Zahn S, Göbel U, Schneider DT. Pathology and molecular biology of teratomas in childhood and adolescence. Klinische Pädiatrie 2006 218 (6): 296–302
  12. Eggener SE. The Clinical Diversity of Postchemotherapy Germ Cell Teratoma. Cancer. March 15, 2009:1138-42.
  13. Furukawa S, Haruta M, Arai Y, Honda S, Ohshima J, Sugawara W, et alYolk sac tumor but not seminoma or teratoma is associated with bnormal epigenetic reprogramming pathway and shows frequent hypermethylation of various tumor suppressor genes. Cancer Sci | April 2009 100 4 698–708.
  14. Hiroshima K, Toyozaki T, Iyoda A, Yusa T, Fujisawa T, Ohwada H. Apoptosis and Proliferative Activity in Mature and Immature Teratomas of the Mediastinum. Cancer. 2001;92 (7): 1798-1807.
  15. Svatek RS, Spiess PE, Sundi D, Tu S, Tannir NM, Brown GA, Kamat AM, et al. Long-Term Outcome for Men WithTeratoma Found at Postchemotherapy Retroperitoneal Lymph Node Dissection. Cancer. 2009;115:1310-17.
  16. Kollmannsberger C, Oechsle K, Dohmen BM, Pfannenberg A, Bares R, Claussen CD, et al. Prospective Comparison of [18F]Fluorodeoxyglucose Positron Emission Tomography with Conventional Assessment by Computed Tomography Scans and Serum Tumor Markers for the Evaluation of Residual Masses in Patients with Nonseminomatous Germ Cell Carcinoma. Cancer. 2002;94(9):2353-63.

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Last updated: 2019-07-11 22:45