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Cervical Teratoma

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Copyright 2007, 2012

NORD is very grateful to N. Scott Adzick, MD, Surgeon-in-Chief at the Children's Hospital of Philadelphia, C. Everett Koop Professor of Pediatric Surgery at the University of Pennsylvania School of Medicine, for his assistance in creating this report.

Synonyms of Cervical Teratoma

Disorder Subdivisions

General Discussion

Cervical teratomas are extremely rare germ cell tumors (neoplasm) that occur in the neck. The majority of teratomas occur in the testes or ovaries (gonads) or the lower back (sacrococcygeal region). In rare cases, other areas such as the neck may be affected. Most cervical tumors occur in children and are non-cancerous (benign). In extremely rare cases, cervical teratomas occur in adults and are usually cancerous (malignant).

The term "cancer" refers to a group of diseases characterized by abnormal, uncontrolled cellular growth that invades surrounding tissues and may spread (metastasize) to distant bodily tissues or organs via the bloodstream, the lymphatic system, or other means. Different forms of cancer are be classified based upon the cell type involved, the specific nature of the malignancy, and the disease's clinical course.

Teratomas are germ cell tumors that, in rare cases, occur in the head and neck region. Some researchers differentiate between cervical and primary thyroid teratomas. For a diagnosis of primary thyroid teratoma one of three conditions must be met: a tumor must occupy a portion of the thyroid gland, a direct connection must exist between the tumor and the thyroid, or a teratoma is accompanied by the absence of the thyroid. However, most cervical teratomas have some type of relationship with the thyroid and the clinical picture and prognosis between these tumors is the same. Therefore, many researchers have abandoned separating these tumors and classify all neck teratomas as cervical teratomas.

Symptoms

Symptoms of cervical teratomas may vary from case to case. The tumors may be non-cancerous (benign) or cancerous (malignant). Cervical teratomas are more common in children than adults. In children they are usually benign; in adults they are usually malignant.

The specific symptoms associated with cervical teratomas in children vary depending upon the size of the tumor. Small tumors may not cause any symptoms (asymptomatic). However, a large teratoma may cause disfigurement and compress nearby structures such as the windpipe (trachea). Such large tumors may cause additional symptoms including a wheezing or whistling sound when breathing (stridor), difficulty breathing, or shortness of breath (dyspnea). These tumors can also compress the esophagus, inhibiting swallowing. Eventually, compression of vital structures may cause life-threatening complications such as respiratory distress.

Cervical teratomas in adults are extremely rare. In most cases, they are malignant and may spread (metastasize) to nearby lymph nodes and other organs of the body, especially the lungs. As in children, cervical teratomas in adults can compress nearby structures such as the windpipe resulting in respiratory distress and additional symptoms.

Causes

The exact cause of cervical teratomas is unknown. These tumors appear to occur randomly for no apparent reason (sporadic). Investigators are conducting ongoing basic research to learn more about the many factors that may result in tumor formation.

Cervical teratomas are germ cell tumors. Germ cells are the cells that develop into the embryo and later on become the cells that make up the reproductive system of men and women. Most germ cell tumors occur in the testes or ovaries (gonads) or the lower back (sacrococcygeal region). When these tumors occur outside of the gonads, they are known as extragonadal tumors.

Teratomas consist of cells foreign to the part of the body where the teratoma forms. They consist of cells from the three major tissue layers of an embryo: ectoderm, endoderm, and mesoderm. These embryonic layers eventually give rise to the various cells and structures of the body. Researchers do not know how extragonadal germ cell tumors form. Several theories have been proposed.

One theory suggests that germ cells accidentally migrate to unusual locations early during the development of the embryo (embryogenesis). Normally, such misplaced germ cells degenerate and die, but in cases of extragonadal teratomas researchers speculate that these cells continue to undergo mitosis, the process where cells divide and multiply, eventually forming a teratoma.

Affected Populations

Cervical teratomas affect men and women in equal numbers. Germ cell tumors account for 3-5 percent of all tumors in childhood. Cervical teratomas are much more common in newborns than adults. Fewer than 50 cases of cervical teratomas in adults have been reported in the medical literature.

Related Disorders

Symptoms of the following disorders can be similar to those of cervical teratomas. Comparisons may be useful for a differential diagnosis.

Lymphatic malformations are rare non-malignant masses consisting of fluid-filled channels or spaces thought to be caused by the abnormal development of the lymphatic system. These malformations are usually apparent at birth or by two years of age. Lymphatic malformations can affect any area of the body (except the brain), but most commonly affect the head and neck. When evident at birth (congenital), lymphatic malformations tend to be soft, spongy, non-tender masses. The specific symptoms and severity of lymphatic malformations varies based upon the size and specific location of the malformation. Some lymphatic malformations can be massive. Lymphatic malformations regardless of size can potentially cause functional impairment of nearby structures or organs and disfigurement of affected areas. (For more information on this disorder, choose "lymphatic malformations" as your search term in the Rare Disease Database.)

Thyroid cancer (carcinoma) is cancer affecting the thyroid gland, a butterfly-shaped structure located at the base of the neck. The thyroid is part of the endocrine system, the network of glands that secrete hormones that regulate the chemical processes (metabolism) that influence the body's activities as well as regulating the heart rate, body temperature, and blood pressure. Hormones are secreted directly into the bloodstream where they travel to various areas of the body. In many cases, there are no symptoms (asymptomatic) associated with thyroid cancer. Pain in the neck, hoarseness and swollen lymph nodes especially in the neck may be present in some cases. The four main types of thyroid cancer are papillary, follicular, medullary and anaplastic. Although thyroid cancer is a rare, it is most common form of cancer affecting the endocrine system. Most forms rarely cause pain or disability and are easily treated with surgery and follow up therapy. (For more information on this disorder, choose "thyroid cancer" as your search term in the Rare Disease Database.)

Hemangioma is a benign tumor consisting of a cluster of small widened (dilated) blood vessels. Most hemangiomas occur in the head and neck region and are often present at birth (congenital). Hemangiomas may grow rapidly, but eventually decrease in size without treatment (spontaneously) - a process called involution. Hemagniomas may leave a birthmark or discolored skin in the affected area. Hemangiomas may ulcerate, resulting in a sore. Large hemangiomas can cause airway obstruction. The exact cause of hemangiomas is unknown.

Standard Therapies

Diagnosis
The diagnosis of a cervical teratoma is based upon a thorough clinical evaluation, identification of characteristic physical findings, a detailed patient history, and a variety of specialized tests. Such testing includes microscopic evaluation of tumor cells.

Prenatal diagnosis of cervical teratomas is possible via ultrasound, a procedure during which reflected sound waves create an image of the developing fetus. Large tumors may be readily apparent on a fetal ultrasound, the neck may appear hyper-extended, or associated findings such as excessive amniotic fluid (polyhydramnios) may be detected. In adults, a mass may be detected in the neck during a routine physical exam.

To confirm a diagnosis of cervical teratoma a variety of tests may be performed including fine-needle aspiration (FNA). FNA is a diagnostic technique in which a thin, hollow needle is passed though the skin and inserted into the nodule to withdraw small samples of tissue from the nodule. The collected tissue is then studied under a microscope.

In some cases, FNA may prove inconclusive and physicians may perform a biopsy. During a biopsy, a small sample tissue is surgically removed and sent to a pathology laboratory where it is processed and studied to determine its microscopic structure and makeup (histopathology).

In addition to ultrasound, additional specialized imaging techniques may be used to help evaluate the size, placement, and extension of a tumor and to serve as an aid for future surgical procedures. Such imaging techniques may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.

In approximately 50 percent of cases, the appearance of clusters of calcium (calcifications) can be detected on x-rays, a finding suggestive of a teratoma. Laboratory tests and specialized imaging tests may also be conducted to determine possible infiltration of regional lymph nodes and the presence of distant metastases.

Treatment
The therapeutic management of individuals with cervical teratomas may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (medical oncologists), specialists in the use of radiation to treat cancer (radiation oncologists), specialists in maternal-fetal health (perinatologists), specialists in the ear, nose and throat (otolaryngologists), pediatric surgeons, oncology nurses, and other specialists.

Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as primary tumor location, extent of the primary tumor (stage), and degree of malignancy (grade); whether the tumor has spread to lymph nodes or distant sites; individual's age and general health; and/or other elements. Decisions concerning the use of particular interventions should be made by physicians and other members of the health care team in careful consultation with the patient, based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks; patient preference; and other appropriate factors.

In most individuals with a cervical teratoma, surgical removal of the tumor and affected tissue is performed. Although most teratomas in children are benign, they can compress the windpipe and nearby structures necessitating their removal.

In cases diagnosed before birth (prenatally), a procedure known as ex utero intrapartum treatment (EXIT) may be performed. In this procedure, surgery is performed as an affected baby is born via Cesarean section. The baby remains attached to the placenta so normal blood flow exchange occurs while physicians perform necessary surgical procedures.

In order to secure the airway, physicians may need to insert a breathing tube (endotracheal tube). In some cases, physicians may perform a tracheostomy, a surgical procedure in which an incision is made in the windpipe (trachea) to create a temporary opening to allow the passage of air.

Adults with a cervical teratoma are treated by complete surgical removal of the tumor. Radiation therapy may be used before surgery (to decrease tumor size) or after surgery as an adjuvant therapy. Chemotherapy immediately after surgery has also been used to treat individuals with cervical teratomas.

Surgical removal of a cervical teratoma may involve the removal of a portion of or the entire thyroid. In such cases, affected individuals must go on hormone replacement therapy to obtain the hormones normally produced by the thyroid.

Infants with a benign cervical teratoma rarely experience recurrence of the tumor. Malignant cervical teratomas such as those found in adults recur more often. Affected individuals must be monitored periodically to check for recurrence.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Information on cancer Clinical Trials is available through the Internet on www.cancer.gov or by calling (800) 4 CANCER.

Contact for additional information about cervical teratoma:

N. Scott Adzick, MD
C. Everett Koop Professor of Pediatric Surgery
University of Pennsylvania School of Medicine
Surgeon-in-Chief
Children's Hospital of Philadelphia
34th Street and Civic Center Boulevard
Philadelphia, Pa. 19104
215-590-1000
Adzick@chop.edu

Organizations related to Cervical Teratoma

References

JOURNAL ARTICLES
Kirchhoff M, Zimmermann B, Gundlach KK, Henkel KO. Neonatal cervical teratoma: case report. Mund Kiefer Gesichtschir. 2006; 10(4):259-62.

Riedlinger WF, Lack EE, Robson CD, Rahbar R, Nose V. Primary thyroid teratomas in children: a report of 11 cases with a proposal of criteria for their diagnosis. Am J Surg Pathol. 2005;29(5):700-6.

Lukman MR, Jasmi AY, Sarinah B, Nurishmah I, Aishah AS. Malignant cervical teratoma in an adult presenting with impending airway obstruction. Asian J Surg. 2005;28(3):227-9.

Di Cataldo A, Sgroi AV, Occhipinti R, et al. Rare malignant tumors of the thyroid. G Chir. 2004;25(11-12):420-3.

Tsang RW, Brierley JD, Asa SL, Sturgeon JF. Malignant teratoma of the thyroid: aggressive chemoradiation therapy is required after surgery. Thyroid. 2003;13(4):401-4.

Thompson LD, Rosai J, Heffess CS. Primary thyroid teratomas: a clinicopathologic study of 30 cases. Cancer. 2000;88(5):1149-58.

Wakhlu A, Wakhlu AK. Head and neck teratomas in children. Pediatr Surg Int. 2000;16(5-6):333-7.

Elmasalme F, Giacomantaonio M, Clarke KD, Othman E, Matbouli S. Congenital cervical teratoma in neonates. Case report and review. Eur J Pediatr Surg. 2000;10(4):252-7.

Chen JS, Lai GM, Hsueh S. Malignant thyroid teratoma of an adult: a long-term survival after chemotherapy. Am J Clin Oncol. 1998;21(2):212-4.

April MM, Ward RF, Garelick JM. Diagnosis, management, and follow-up of congenital head and neck teratomas. Laryngoscope. 1998;108:1398-401.

Kountakis SE, Minotti AM, Maillard A, Stiernberg CM. Teratomas of the head and neck. Am J Otolaryngol. 1994;15(4):292-6.

INTERNET
Hamilton CA, Ellison MC. Cystic Teratoma. Emedicine. http://emedicine.medscape.com/article/281850-overview. Updated January 17, 2012. Accessed March 13, 2012.

Adkins ES III. Pediatric Teratomas and Other Germ Cell Tumors. Emedicine. http://emedicine.medscape.com/article/939938-overview. Updated December 2, 2011. Accessed March 13, 2012.

The Children's Hospital of Philadelphia Health Information. http://www.chop.edu/service/fetal-diagnosis-and-treatment/fetal-diagnoses/giant-neck-masses-gnm-cervical-teratoma.html. Updated June 2011. Accessed March 13, 2012.

Report last updated: 2012/03/20 00:00:00 GMT+0