Extragonadal Teratomas Research Articles

Low-grade mucinous epithelial neoplasm (intestinal type) arising in a mature sacrococcygeal teratoma with late recurrence as pseudomyxoma peritonei

Mucinous epithelial neoplasms associated with mature teratomas are well described in the gonads, and some examples have presented with clinical pseudomyxoma peritonei. The association between pseudomyxoma peritonei and an extragonadal teratoma is limited to a single case report. We describe a mature teratoma in the sacrococcygeal region associated with an intestinal-type mucinous epithelial neoplasm that recurred with a disseminated intraperitoneal low-grade mucinous epithelial neoplasm and mucinous ascites. To our knowledge, this is the first reported case of a mature teratoma-associated mucinous epithelial neoplasm from any anatomical site with documented late recurrence as pseudomyxoma peritonei.

SACROCOCYGEAL TERATOMA WITH SARCOMATOUS DIFFERENTIATION IN A CHILD

Most of the extragonadal teratomas are located in the sacrococygeal region. Teratoma with malignant sarcomatous differentiation is a rare form of germ cell tumor. The authors describe a 5-year-old-girl with sacrococygeal teratoma in which sarcomatous elements were observed. The patient was treated with complete surgical excision and adjuvant chemotherapy according to sarcoma protocols.

Why human extragonadal germ cell tumours occur in the midline of the body: old concepts, new perspectives

Hypotheses on the origin and distribution of extragonadal germ cell tumours (GCTs) and teratomas are briefly reviewed and revisited in the light of (i) new developments in the classification of GCTs, (ii) data on genomic imprinting of these neoplasms and (iii) the recent finding that germ cells can be derived from mouse and human embryonal stem (ES) cells. Only the Type I (infantile teratomas/yolk sac tumours) and Type II GCTs (seminomatous tumours and non-seminomas) occur in the gonads and extragonadal localizations. The data on genomic imprinting lend support to the hypothesis that they are derived from germ cells. These precursor cells could have differentiated from ES cells in extragonadal localizations. Their distribution along the midline of the body is still best explained by the migration of primitive germ cells during development. The narrower distribution of the Type II than the Type I GCTs is probably due to the more strict conditions for survival and proliferation of primordial germ cells (PGCs)/gonocytes from which the Type II tumours originate, when compared with the precursor cells of Type I tumours, probably primitive germ cells closer to the ES cell. The known niches in which the Type II tumours develop have in common that they contain feeder cells expressing stem cell factor (SCF) - the ligand for the SCF receptor c-KIT, involved in proliferation and survival of PGCs/gonocytes - and contain GBY including the gene TSPY.

Huge teratoma of the nasopharynx

Congenital immature teratoma of the nasopharynx is a very rare form of extragonadal teratoma. In this article, management of a newborn with nasopharyngeal teratoma who underwent tumor resection is reported. The tumor, which originated from the nasopharynx, almost filled the oral cavity and protruded through the mouth, with its external part comparable to the size of the head. She could breath when the head and mass were turned to the left. For safe management of these cases, prenatal evaluation, careful preoperative assessment of the airway, sufficient preparation, and intubation by an expert are mandatory. Perioperative bleeding and obstruction of airway by the tumor or its remnant could render the case difficult.

Simultaneous adenocarcinoma and squamous cell carcinoma arising from a mediastinal cystic teratoma: Case report and literature review

Summary Teratoma with malignant transformation is rarely seen in gonadal or extra-gonadal sites. Extra-gonadal teratoma with malignant transformation is usually found in the mediastinum. More than two-thirds of mediastinal teratoma with malignant transformation cases receive chemotherapy or irradiation at the time of diagnosis. Herein, we report a naturally occurring mediastinal teratoma with malignant transformation in a 43-year-old man complaining of chest tightness and severe dyspnea. A huge cystic mediastinal mass was discovered from chest-computerized tomography scan. Emergent thoracostomy was performed to remove the tumor because of impending respiratory failure. The histology of the tumor was compatible with cystic teratoma, and the transformed non-germ cell region showed both adenocarcinoma and squamous cell carcinoma. The patient underwent postoperative chemotherapy. However, his condition deteriorated rapidly and he expired 8 months after diagnosis. Summarizing previous case reports in the literature: (1) 34.6% of mediastinal teratoma with malignant transformation patients survive after treatment; (2) the malignant components are sarcoma and carcinoma; similar survival rates are achieved where both histological features are present, however, survival is reduced with multiple or mixed types of malignant transformation; (3) the delineation between treatment-induced and naturally occurring teratoma with malignant transformation at the mediastinal site is indistinct; and, (4) complete surgical eradication is still the mainstay of treatment for prolonged survival in patients with mediastinal teratoma with malignant transformation.

Novel karyotypic changes detected by comparative genomic hybridization in a case of congenital cervical immature teratoma

Cervical immature teratoma is a rare congenital tumor, and very few cases have been studied cytogenetically. In this article, we describe a case of this tumor type and present the findings of the karyotype of the lesion, which was performed with the bacterial artificial chromosome arrays using the comparative genomic hybridization method. The chromosomal abnormalities that we found included an amplification on 1p21.1, a 9p22 deletion, and a 1-copy gain of 17q21.33. None of the identified chromosomal aberrations have been previously associated with congenital extragonadal teratomas. Important genes that lie in these DNA regions may be implicated in the pathogenesis of congenital teratomas.

Malignant Cervical Teratoma in an Adult Presenting with Impending Airway Obstruction

Extragonadal teratomas and germ cell tumours are uncommon. Most teratomas of the head and neck present in the paediatric age group. Occurrence of such tumours in an adult is extremely rare and, to date, less than 40 cases have been reported in the literature. We report a case of a young man presenting with impending airway obstruction secondary to a malignant teratoma of the neck.

Congenital Teratoma

Extragonadal teratoma is the most common congenital tumor. The prognostic significance of the grade of immaturity and the presence of small foci of conventional yolk sac tumor (YST) in fetal and neonatal teratomas have not been determined. We report detailed histologic studies of 22 congenital teratomas, including eight tumors resected in utero for developing hydrops, and correlate the histologic features with initial serum alpha-fetoprotein (AFP) levels and clinical outcome. All fetal tumors that required in utero intervention were grade 3 immature teratomas, with admixed conventional YST in 44%. Among tumors resected postnatally, those presenting in utero were more commonly immature (71% vs. 50%). All initial post-surgical serum AFP levels were high, as expected in a neonate. No correlation was found between AFP elevation above the mean for gestational age and the presence of YST, hepatic differentiation, or immature endodermal glands in the tumor. Among 15 survivors with follow-up, 5 patients had malignant mixed germ cell tumors (immature teratoma with foci of conventional YST) and 5 had immature teratomas with foci of hepatic differentiation or immature endodermal glands with subnuclear vacuoles (so-called "well-differentiated YST"). No patient has developed recurrent or metastatic disease after treatment by complete surgical excision alone (mean follow-up, 37.6 months). The clinical behavior of congenital teratomas is determined predominantly by whether or not the tumor can be completely resected and in our study did not correlate with the grade of the teratoma or with the presence or absence of foci of hepatic tissue, immature intestinal glands, or foci of conventional YST.

RETROPERITONEAL TERATOMA IN A SKUNK (MEPHITIS MEPHITIS)

A 4-yr-old striped skunk (Mephitis mephitis) developed an 11- x 7- x 7-cm retroperitoneal mass caudal to the left kidney. The mass was surgically excised and, on the basis of histology and immunohistochemistry, diagnosed as a benign teratoma. Six months later, a second histologically similar neoplasm was excised from the same location and was considered to represent local tumor recurrence. The skunk died 16 mo later without recurrence. Complete excision of the tumor appeared curative in this case and supported the benign diagnosis. An extragonadal teratoma should be considered as a differential diagnosis for an abdominal mass in a skunk.

Primary retroperitoneal teratomas: a review of the literature.

Teratomas are uncommon neoplasms comprised of mixed dermal elements derived from the three germ cell layers. Historically, teratomas were attributed to demons, sexual misconduct, and abnormal fertilization. They attract attention because of their bizarre histology and gross appearance. While the majority of teratomas present congenitally in the sacrococcygeal region, within the ovaries of adolescent females and within the testes of young men, they have been identified throughout the body. Extragonadal teratomas tend to occur in midline structures as the anterior mediastinum, retroperitoneum, sacrococcygeal region, and pineal gland. Retroperitoneal teratomas represent only 1-11% of primary retroperitoneal tumors. Incidence is bimodal with peaks in the first 6 months of life and in early adulthood. Due to their location, they are usually identified only after they have grown to huge proportions. There is a 25% chance of malignancy. Surgical resection remains the mainstay of therapy and is required for definitive diagnosis. This article reviews the literature on the histopathology, classification, genetic abnormalities, and theories of origin of teratomas as well as the presentation, diagnosis, and management of retroperitoneal teratomas.

Developmental anomalies and neoplasia in animals and cells deficient in the large zinc finger protein KRC.

The large zinc finger protein KRC binds to the signal sequences of V(D)J recombination and the kappaB motif. Disruption of KRC expression in cell lines resulted in increased cell proliferation, anchorage independence of growth, and uncoupling of nuclear division and cell division. In this report, the function of KRC was studied in a RAG2-deficient blastocyst complementation animal model. KRC-deficient embryonic stem cells were generated by homologous recombination and were introduced into RAG2(-/-) blastocysts to generate KRC(-/-);RAG2(-/-) chimeric mice. The lymphoid compartments of chimeras examined at 5 weeks of age were developed, suggesting that KRC is not essential for V(D)J recombination development. However, by 6 months of age, there was a marked deficit in CD4(+)CD8(+) thymocytes in the chimeras, suggesting that KRC may be involved in T-lymphocyte survival. Additionally, one chimera developed anomalies, including postaxial polydactyly, hydronephrosis, and an extragonadal malignant teratoma. DNA analysis showed that the teratoma was derived from KRC(-/-) embryonic stem cells. The teratoma had compound tissue organization and was infiltrated with B lymphocytes. Subsequently, several immortalized KRC-deficient cell lines were established from the teratoma. In this study, growth anomalies and neoplasia were observed in animals and cells deficient in KRC, and other studies have shown allelic loss occurring at the chromosomal region of the human KRC counterpart in various tumors. We propose that KRC may be a previously unidentified tumor-suppresser gene.

A thoracal spinal cord teratoma associated with Taussig–Bing anomaly in a newborn

Background Teratomas are the most common type of childhood germ cell tumor, arising in both ovary and extragonadal locations. From 40% to 50% of the extragonadal teratomas occur in the sacrococcygeal region. Teratomas in the head, neck, brain, mediastinum, abdominal, and spinal cord locations are seen less frequently. Congenital anomalies are observed up to 26% of the cases with teratoma. Methods A 2-day-old newborn was admitted to the hospital because of a mass in the interscapular region. She was evaluated for this and other anomalies. The mass was excised totally, and histopathologic evaluation was done. Results Histopathologic examination of the mass revealed a mature teratoma. In addition, the child had a Taussig–Bing anomaly of the heart. Conclusions This appears to be the first report of the association between congenital thoracic spinal cord teratoma and Taussig–Bing anomaly, a specific type of transposition of the great arteries. Teratology 63:77–78, 2001. © 2001 Wiley-Liss, Inc.

Oral mature teratoma containing epididymal tissue in a female neonate

We describe a female neonate with an oral teratoma showing bone, teeth, and epidermis, but also epididymal (male) tissue. PCR amplification of Y-chromosomal DNA clearly showed male DNA from paraffin-embedded tumour tissue. The girl had a normal female karyotype without abnormalities of the genital organs. There are at least three hypotheses for the origin of teratomas: parthenogenesis, incomplete twinning, and totipotent somatic-cell origin. This case supports the hypothesis of an included dizygotic twin, and might contribute to the elucidation of the pathogenesis of extragonadal teratomas.

Prenatally Diagnosed Sacrococcygeal Teratoma: A Unique Expression of Trisomy 1q

Partial duplication of the long arm of chromosome 1 has been observed in fetal intracranial teratomas. We sonographically diagnosed a 19-week fetus with sacrococcygeal teratoma, cerebral ventriculomegaly, and cerebellar hypoplasia. Chromosomal analysis of amniocytes showed an unbalanced translocation between chromosomes 1 and 15, resulting in trisomy 1q21→1qter. Duplication or over expression at more than one locus on the long arm of chromosome 1 may be required for the development of an extra-gonadal teratoma.

Granulomatous peritonitis caused by extragonadal cystic teratoma in the upper abdomen successfully treated with prednisolone. A case report

Fujiwara K, Ishikawa H, Yoshida T, Yamauchi H, Kohno I, Mikami Y, Imajo Y. Granulomatous peritonitis caused by extragonadal cystic teratoma in the upper abdomen successfully treated with prednisolone. A case report. Int J Gynecol Cancer 1998; 8: 257–260. A case of granulomatous peritonitis due to leakage from an extragonadal cystic teratoma in the upper abdomen and successfully treated with prednisolone is presented. A 45-year-old Japanese female was hospitalized due to severe ascites. A cystic teratoma was found in the upper abdomen. An exploratory laparotomy revealed granulomatous peritonitis, probably caused by extravasated material from the cystic teratoma. No evidence of malignancy or an infectious disease such as tuberculosis or fungi was found. Since the ascites did not disappear after operation and administration of diuretics, prednisolone was administered. A gradual decrease in the ascites was then observed and it finally disppeared after 18 months.

Spontaneous rupture: a complication of benign mature teratomas of the mediastinum.

M ature teratomas are neoplasms consisting of well-differentiated adult tissues of ectodermal, mesodermal, and endodermal elements. They occur most commonly in the gonad. Extragonadal teratomas are located along the body midline in such locations as the cranial cavity, mediastinum, retroperitoneum, and sacrococcygeal region [I]. Mediastinal mature teratomas usually occur in the anterosuperior mediastinum. They occur in all age groups but are most often diagnosed in young adults. No sex predilection exists. Fifty-three percent of patients have no symptoms at the time of diagnosis; the tumor is found incidentally on chest radiographs. When symptoms are present, they include chest pain, dyspnea, and cough [1]. Tumor rupture is a serious and unique complication associated with mediastinal mature teratomas. With the presence of both fat and calcification, diagnosis of an unruptured mature teratoma is not difficult. However, when this type of tumor ruptures, radiologic findings may be similar to those for a malignant infiltrative tumor. We show the varied radiologic manifestations of ruptured mature teratomas using radiography, CT, MR imaging, and histologic specimens.

SEX CHROMOSOME DETERMINATION IN EXTRAGONADAL TERATOMAS BY INTERPHASE CYTOGENETICS: Clues to Histogenesis

Teratomas are neoplasms that are composed of tissues from all three germinal layers. The exact histogenetic origin of teratomas, however, is still controversial. In order to gain more insight into histogenesis of extragonadal teratomas (EGTs), the gonosomal status in 13 congenital EGTs was studied by means of interphase cytogenetics using nonradioactive in situ hybridization (NISH) with centromere-specific DNA probes. By use of this technique a direct correlation of cytogenetic results with morphology was possible. In all EGTs analyzed the gonosomal status in tissues derived from the different germinal layers was identical to that of the nontumorous fetal and placental tissue. This was true irrespective of localization, age, histological type, and classification of the EGT. Our results strongly suggest that EGTs arise from pluripotent diploid precursor cells, for example, either premeiotic germ cells that have not yet undergone the first meiotic division or pluripotent ectopic embryonal or extraembryonal cells. Our data do not support the theory of parthenogenetic EGT development, at least in males.

Sex Chromosome Determination in Extragonadal Teratomas by Interphase Cytogenetics: Clues to Histogenesis

Sex Chromosome Determination in Extragonadal Teratomas by Interphase Cytogenetics: Clues to Histogenesis

Sex Chromosome Determination in Extragonadal Teratomas by Interphase Cytogenetics: Clues to Histogenesis

Teratomas are neoplasms that are composed of tissues from all three germinal layers. The exact histogenetic origin of teratomas, however, is still controversial. In order to gain more insight into histogenesis of extragonadal teratomas (EGTs), the gonosomal status in 13 congenital EGTs was studied by means of interphase cytogenetics using nonradioactive in situ hybridization (NISH) with centromere-specific DNA probes. By use of this technique a direct correlation of cytogenetic results with morphology was possible. In all EGTs analyzed the gonosomal status in tissues derived from the different germinal layers was identical to that of the nontumorous fetal and placental tissue. This was true irrespective of localization, age, histological type, and classification of the EGT. Our results strongly suggest that EGTs arise from pluripotent diploid precursor cells, for example, either premeiotic germ cells that have not yet undergone the first meiotic division or pluripotent ectopic embryonal or extraembryonal cells. Our data do not support the theory of parthenogenetic EGT development, at least in males.

Immature Teratoma of the Uterine Fundus.

An exceedingly rare case of extragonadal immature teratoma, which occurred primarily in the uterus, is described. The tumor developed into the pelvic cavity from the uterine fundus and consisted of ectodermal, mesodermal and endodermal derivatives. There were also significant amounts of immature elements; immature neuroepithelium with brisk mitotic activity, immature mesenchymal tissue, immature cartilage, immature striated muscle and immature hepatic tissue. Histologically, it was classified as a grade 3 immature teratoma. Treatment consisted of total simple hysterectomy followed by 2 courses of combination chemotherapy with vincristine, actinomycin D and cyclophosphamide (VAC). The patient was well and without evidence of recurrence at 5 years post-operatively.