Endodermal sinus (yolk sac) tumor of vagina and cervix in an infant

A case of vaginal and cervical endodermal sinus (yolk sac) tumor in a 6-month-old female infant is reported. The patient presented with an intermittent bloody discharge on her diapers. Pelvic CT showed an irregular soft tissue density mass with heterogeneous enhancement within the vagina and extending to the cervix. The histopathologic features were identical to those of endodermal sinus tumors.     

Clinical manifestations and MRI features of vaginal endodermal sinus tumors in four children

Background

Vaginal endodermal sinus tumor is a rare entity.

Objective

The purpose of this study was to report the clinical manifestations and MRI features in a case series.

Materials and methods

Children with vaginal endodermal sinus tumor admitted to our hospitals between January 2008 and August 2012 were included. MRI was performed in all four children and diffusion-weighted imaging was performed in two children.

Results

Four children, mean age 14 months, were included. All had a history of vaginal bleeding. Serum alpha-fetoprotein was significantly elevated on admission. Relative to muscle, the vaginal masses were uniformly isointense on T1-weighted images, heterogeneously hyperintense on T2-weighted images and heterogeneously enhancing on contrast-enhanced images. The vaginal masses were obviously hyperintense on diffusion-weighted images (b value, 800 s/mm²). Extravaginal invasion was observed in three children. Pelvic lymphadenopathy was noted in two children and pulmonary metastasis was found in one child.

Conclusion

MRI may contribute in the evaluation of vaginal endodermal sinus tumors.     

Primary endodermal sinus tumor of the liver detected by CT

We report a case of primary endodermal sinus tumor of the liver. Endodermal sinus tumors are rare neoplasms which usually arise in the testis or ovary. Extragonadal endodermal sinus tumors are uncommon and primary tumors of the liver are very rare. The tumor was detected using CT and the diagnosis was made by percutaneous biopsy.     

小儿性腺外内胚窦瘤3例诊断与治疗分析

目的总结小儿原发性腺外内胚窦瘤的诊断与治疗经验。方法回顾性分析我院2003年10月-2011年9月收治的3例性腺外内胚窦瘤患儿的病历资料。结果术前均行PEB或JEB方案新辅助化疗,根治性手术切除,术后病理均为完全缓解,术后继续化疗。随访3个月～8年,2例无病存活,1例原位复发,经术前化疗、再次手术切除及术后化疗后,现随访25个月,无病存活。结论甲胎蛋白水平对小儿性腺外内胚窦瘤诊断及术后复发监测灵敏度较高,化疗与手术结合治疗效果良好。     

Testicular germ cell tumors in prepubertal children

Pediatric testicular germ cell tumors are rare. Fifteen children, all less than 5 years of age, were evaluated and treated during February 1987 to July 1996. The median age was 18 months (range, 4-60 months). All were staged according to the Pediatric Oncology Group/Children's Cancer Study Group staging system. Seven patients had stage III disease. Histologically, 9 patients had pure endodermal sinus tumor, 1 had endodermal sinus tumor with embryonal carcinoma, 1 had embryonal carcinoma alone, 2 had immature teratoma, and 2 had mature teratoma. Six children were kept on surveillance. All others received chemotherapy with cisplatin, bleomycin, and vinblastine. The 10-year actuarial overall survival rate was 86.7%.     

Vaginal endodermal sinus tumor

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding pervagina. She had pallor and a mass was palpable anteriorly on rectal examination. Magnetic Resonance Imaging (MRI) showed a tumor mass at the junction of cervix and vagina and biopsy was suggestive of a vaginal EST. The serum alpha fetoprotein (AFP) was elevated. She underwent vaginohysterectomy. The tumor was excisedin toto and patient received four courses of cisplatin, etoposide and bleomycin. At one year of follow up, patient was symptom free and serum AFP remained at normal level. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. It is both locally aggressive and capable of metastasis. Even though more conservative surgery is advised to maintain sexual and reproductive function, at times, radical surgery is mandatory depending on the infiltration of the tumor to the surrounding structures. Simple tumor excision is not sufficient, as residual cells induce recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.     

TESTICULAR GERM CELL TUMORS IN PREPUBERTAL CHILDREN

Pediatric testicular germ cell tumors are rare. Fifteen children, all less than 5 years of age, were evaluated and treated during February 1987 to July 1996. The median age was 18 months (range, 4-60 months). All were staged according to the Pediatric Oncology Group/Children's Cancer Study Group staging system. Seven patients had stage III disease. Histologically, 9 patients had pure endodermal sinus tumor, 1 had endodermal sinus tumor with embryonal carcinoma, 1 had embryonal carcinoma alone, 2 had immature teratoma, and 2 had mature teratoma. Six children were kept on surveillance. All others received chemotherapy with cisplatin, bleomycin, and vinblastine. The 10-year actuarial overall survival rate was 86.7%.     

小儿骶尾部内胚窦瘤的治疗

目的探讨骶尾部内胚窦瘤的治疗和预后。方法回顾性分析1999年1月-2005年12月收治12例骶尾部内胚窦瘤患儿。该组病例术前经B超、CT或MRI检查发现骶尾部肿瘤,经检测血清甲胎蛋白均升高,采用手术切除全部或大部分肿瘤,所有患儿均采用BEP（顺铂十足叶乙甙＋博来霉素）方案化疗。结果该组病例术前经B超或CT检查发现骶尾部肿瘤,经检测血清甲胎蛋白（AFP）均升高,采用手术切除全部或大部分肿瘤,病理证实为内胚窦瘤。患儿均采用BEP（顺铂＋足叶乙甙＋博来霉素）方案化疗。随访6年,生存9例,死亡3例,复发5例。结论以顺铂为基础的联合化疗可改善内胚窦瘤疗效,AFP检测及B超联合应用对小儿内胚窦瘤诊断及复发监测有重要意义,选择恰当的手术方式并辅以联合化疗可提高患儿长期生存率。     

Endodermal sinus tumor of the nasopharynx and previous mature congenital teratoma

Congenital teratoma of the nasopharynx is a rare tumor that has shown consistently benign behavior. In contrast, endodermal sinus tumor, even more unusual nasopharyngeal germ cell tumor, displays consistently aggressive behavior with most reports documenting early death of the patient. We report the clinicopathological features of a case of endodermal sinus tumor of the nasopharynx that developed in a 3-year-old girl who had a mature teratoma excised from the same site in the neonatal period. Local recurrence of the endodermal sinus tumor was followed by disseminated disease and death within 18 months.     

Endodermal Sinus Tumor of the Nasopharynx and Previous Mature Congenital Teratoma

Congenital teratoma of the nasopharynx is a rare tumor that has shown consistently benign behavior. In contrast, endodermal sinus tumor, even more unusual nasopharyngeal germ cell tumor, displays consistently aggressive behavior with most reports documenting early death of the patient. We report the clinicopathological features of a case of endodermal sinus tumor of the nasopharynx that developed in a 3-year-old girl who had a mature teratoma excised from the same site in the neonatal period. Local recurrence of the endodermal sinus tumor was followed by disseminated disease and death within 18 months.     

Intracranial germ cell tumors in children: an immunohistochemical and electron microscopic study

From a review of a series of 1,474 intracranial tumors occurring in children, we identified 49 patients (3.3%) with primary intracranial germ cell tumors: 65% germinomatous, 26% nongerminomatous (8 teratomas, 3 endodermal sinus, and 2 choriocarcinomas), and 8 degrees 10 mixed. Placental alkaline phosphatase was present in all germinomas tested. Human chorionic gonadotropin was identified in 7 patients, cytokeratin in 6, and alpha-fetoprotein in 4. The results of immunostaining with antisera against glial fibrillary acidic protein, desmin, and vimentin were essentially negative. Electron microscopy played an important role in confirming the diagnosis in patients with endodermal sinus and mixed tumors. The correct identification of mixed and non-germ-cell tumors requires adequate tumor sampling and proper preparation of tissue for immunohistochemical and electron microscopic examination.     

Successful treatment of an endodermal sinus tumor of the vagina by chemotherapy alone: a rare case of an infant diagnosed by pathological examination of discharged tumor fragment

A 7-month-old infant was noted to have vaginal bleeding that was accompanied by a discharged tumor fragment. The histological diagnosis was endodermal sinus tumor. Her serum alpha-fetoprotein (AFP) was increased to 358.7 ng/mL, and magnetic resonance imaging showed a 1.8 x 1.0 cm tumor in the vagina. She received combination chemotherapy with cyclophosphamide, pirarubicin, carboplatin, and etoposide. The tumor in the images disappeared and the serum level of AFP returned to the normal range after 2 cycles. Treatment was complete without surgical or radiological therapy. More than 45 months after the completion of chemotherapy, she is alive without signs of recurrence.     

Endodermal sinus tumors in the head and neck region

Extragonadal germ cell tumors of the head and neck region account for only 5% of all benign and malignant germ cell tumors. Endodermal sinus tumors (EST) of the head and neck region are rare. We report three patients with EST of head and neck region over a period of 10 years; the primary sites of tumor were orbit, maxillofacial region and retroauricular region. Histopathological examination revealed malignant teratoma with predominant endodermal sinus pattern in two, and pure EST in one patient. Serum alpha fetoprotein (AFP) was elevated in all three patients. Two patients had initial surgery but did not receive adjuvant chemotherapy, as the parents refused it. Partial remission was achieved in the other patient who received chemotherapy (cisplatin, bleomycin and vinblastin) and the patient died of infection after four courses of chemotherapy. Med. Pediatr. Oncol. 29:303–307, 1997. © 1997 Wiley-Liss, Inc.     

Endodermal sinus (yolk sac) tumor in infants and children. A clinical and pathologic study: an 11 year review

We reviewed the clinical features, treatment, and results of children with gonadal and extragonadal yolk sac (endodermal sinus) tumors seen in the King Faisal Specialist Hospital and Research Centre between 1976 and 1987. There were nine children (seven girls and two boys) with ages ranging from 7 months to 12 years (median of 3.5 years). Sites of origin included the vagina (two cases), face (two cases), sacrum (two cases), mediastinum (one case), ovary (one case), and testicle (1 case). All children had elevated alpha-fetoprotein (AFP) at diagnosis. One girl had complete surgical excision of an ovarian tumor at the time of diagnosis, and one boy had surgical excision of the testis. In the remaining seven children, the tumor was unresectable. Surgery was limited to a biopsy in six children. All patients received different combinations of chemotherapy, including vincristine (VCR), actinomycin D (Act-D), cyclophosphamide (Cyclo), adriamycin (Adria), bleomycin (Bleo), cis-platinum (CDDP), vinblastine (VBL), and VP-16. Of the nine patients, one was lost to follow-up while in remission, five died, one was lost to follow-up, and three are alive and disease-free at 15, 55, and 67 months from diagnosis. This review demonstrates an unusual preponderance of the extragonadal form of endodermal sinus tumor among our patients.     

Emergence of mature teratoma following treatment of sacrococcygeal endodermal sinus tumor: CT and MR imaging with pathological correlation

We report a case of pseudoretroconversion in which, clinically and pathologically, it appeared that an endodermal sinus tumor retroconverted to mature teratoma. An 8-month-old white female infant with a sacrococcygeal tumor, diagnosed by biopsy as endodermal sinus tumor (yolk sac tumor), was treated with chemotherapy. The residual tumor after treatment was mature teratoma confirmed by imaging and by pathological examination. We present the computerized tomography (CT) and magnetic resonance imaging (MRI) findings with pathological correlation.     

Non-midline endodermal sinus tumor in the head and neck region: A case report

Germ cell tumors, in particular teratomas, are some of the most commonly found tumors in childhood. Six percent of all germ cell tumors are located in the head and neck region. Endodermal sinus tumors (yolk sactumors) of the head and neck, exclusive of the central nervous system, are rare. This study reports a 20-month-old girl with a mass of 5 × 5 cm on the left temporal area and with bone destruction on CT. The histopathological examination of the excised mass revealed an endodermal sinus tumor. The serum AFP and the LDH levels were elevated at diagnosis. The patient was treated by the BEP protocol (bleomycin, etoposide, and cisplatin), six cycles every three weeks. Partial response was attained after the first and complete response after the fourth cycle. The patient, who is being followed up, has been in remission for five months. © 1993 Wiley-Liss, Inc.     

小儿恶性实体瘤雌激素受体

对６３例小儿常见恶性实体瘤石蜡切片进行雌激素受体（ＥＲ）酶联亲和组织化检测。ＥＲ阳性率睾丸内胚窦瘤为６０％（６／１０％），性腺外内胚窦瘤８０％（４／５），神经母细胞瘤６０％（９／１５），肾母细胞瘤２９％（４／１４），横纹肌肉瘤与非何杰金淋巴瘤为０（０／１１和０／６）。小儿恶性肿瘤ＥＲ检测对示肿瘤病因、指导内分泌治疗和鉴别诊断有一定意义。     

Malignant mediastinal germ-cell tumors in childhood: a report of two cases achieving long-term disease-free survival

Two cases of malignant mediastinal germ-cell tumor are reported. Case 1 is a 20-month-old girl with endodermal sinus tumor (EST) and is, to our best knowledge, the third female pediatric case of mediastinal EST in the literature. Case 2 is a 15-year-old boy with malignant teratoma (mature teratoma with poorly differentiated squamous cell carcinoma). Both cases were treated by primary combination chemotherapy of vincristine, actinomycin D, and cyclophosphamide or vinblastine, cisplatin, and bleomycin, secondary operation (complete resection), radiation to the tumor bed, and some courses of consolidation chemotherapy. Malignant mediastinal germ-cell tumors have been considered to have a poor prognosis, being different from gonadal tumors; however, long-term survivals with no evidence of recurrence were achieved both in case 1 (for 55 months) and in case 2 (for 56 months).     

Cytogenetic Analysis of Childhood Endodermal Sinus Tumors: A Pediatric Oncology Group Study

Most adult germ cell tumors have a consistent cytogenetic abnormality, i(12p), and are aneuploid. Many pediatric germ cell tumors are biologically distinct from their adult counterparts, particularly endodermal sinus tumors (ESTs) of young children. We report cytogenetic and ploidy analysis of nine ESTs involving children under 3 years of age (four extragonadal and five testicular). Structural abnormalities were present in seven tumors and were identifiable in six: 5/6 had a structural abnormality of chromosome 1, usually terminal deletion of 1p; 5/6 showed 6q deletion; 3/6 had structural abnormalities of 3p; 2/6 showed abnormalities of chromosome 2. None showed an i(12p) or abnormality of chromosome 12. Ploidy analysis of the tumors correlated with the cytogenetic analysis; in particular, the tumor that was cytogenetically normal showed no aneuploid peaks. To determine if a marker chromosome was derived from chromosome 12 or if karyotypically normal cases included nondividing tumor cells, interphase fluorescence in situ hybridization using an alpha satellite probe for chromosome 12 was performed. These studies showed no evidence of an i(12p). We conclude that ESTs in young children show cytogenetic differences from their adult counterparts and that loci on 1p, 6q, and 3q need to be further studied.