Schinzel-Giedion syndrome: Report of two sibs

We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: “coarse face” with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth. © 1995 Wiley-Liss, Inc.     

Malignant sacrococcygeal teratoma in the adult

This case of a malignant sacrococcygeal teratoma, usually a tumour of early childhood, presented as a bedsore in the lower end of the nuchal cleft of a 69-year-old man and proved to be malignant with a trophoblastic element. The literature of adult sacrococcygeal teratoma is reviewed; we have been able to find only three malignant examples.     

A patient with Schinzel-Giedion syndrome and a review of 20 patients

Summary The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardian and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.     

Mature sacrococcygeal teratoma: case report

Background

Mature sacrococcygeal teratomas (SCT) are uncommon neoplasms comprised of mixed elements derived from the three germ cell layers. They attract attention because of their gross appearance and bizarre histology.

Aim

To demonstrate the clinical presentation and management of mature SCT in a neonate.

Patient and Method

A case report of a neonate with mature SCT is hereby presented.

Results

A 10-day old baby boy presented with a mature SCT comprising well- developed lower limb, rudimentary external genitalia and teeth. He had complete surgical excision (including coccygectomy) with primary wound closure and uneventful postoperative recovery. Follow-up at three years using clinical, biochemical and radiological assessment revealed no evidence of recurrence.

Conclusion

Mature SCT appear to be entirely benign during the neonatal period. Complete surgical excision remains the mainstay of treatment.     

Three new cases of the Schinzel-Giedion syndrome and review of the literature

Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities. © 1994 Wiley-Liss, Inc.     

Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia

Down syndrome may be associated with many complications. Among the malignancies associated with Down syndrome, leukaemia is the most common. This is a case report of a patient with Down syndrome associated with both a retroperitoneal teratoma and a Morgagni hernia.     

Subcutaneous myxopapillary ependymoma presenting as a childhood sacrococcygeal tumor: a case report

Subcutaneous myxopapillary ependymoma in a sacrococcygeal location is an uncommon lesion. We report such a case in a 16-mo-old female child, who presented with a sacrococcygeal mass since birth. The cytological picture was that of a malignant small round cell tumor and the diagnosis was missed on cytology, which was retrospectively confirmed on comparison with histology. Although rare, this lesion can be a potential diagnostic pitfall and needs to be distinguished from other malignant tumors occurring at this age and at a similar location, like sacrococcygeal teratoma with immature elements, primitive neuroectodermal tumor (PNET), and PNET with ependymal differentiation.     

Hypertrophy of the placenta and sacrococcygeal teratoma

Summary This report describes two pregnancies complicated by hydramnios, fetal death and sacrococcygeal teratoma in the second trimester. In both cases the placenta was remarkably enlarged. It is postulated that the tumors behaved in the manner of A-V fistulas and produced forward failure in the fetus similar to what is occasionally seen with large chorangiomas.     

FNA diagnosis of teratoma lung: A case report

A case of teratoma occurring in the lung of a 27‐year‐old female, diagnosed by fine‐needle aspiration cytology and confirmed by histopathology, is being presented here. Occurrence of teratoma at this site is a rare entity. The authors take this opportunity to report such a rare case, and as to the best of our knowledge, not many cases have been reported in literature till date. Diagn. Cytopathol. 2010;38:758–760. © 2010 Wiley‐Liss, Inc.     

唐氏综合征合并畸胎瘤一例报告及机制探讨

目的探讨唐氏综合征和畸胎瘤发生可能存在的相关性。方法通过对一例唐氏综合征合并畸胎瘤报告及相关文献复习,概述唐氏综合征可能引起畸胎瘤的原因。结果唐氏综合征患者生殖细胞成熟延迟,癌基因高表达,DNA抗损伤及修复能力下降,促性腺激素水平增高等因素是引起原始生殖细胞突变形成畸胎瘤的原因。结论鉴于唐氏综合征和畸胎瘤以及生殖细胞肿瘤的相关性,临床医生应重视相关检查。     

Sacrococcygeal teratoma with nephroblastic elements: a case report and review of literature

Sacrococcygeal teratoma with nephroblastic elements is very rare. Only 8 cases have been reported up to date. 3 cases were misdiagnosed as extrarenal nephroblastomas and were administered excessive treatments such as chemotherapy and radiation therapy. It has a great significance to distinguish sacrococcygeal teratoma with nephroblastic elements from extrarenal nephroblastoma for their different biological behaviors, therapies and prognoses. Here we report one case of sacrococcygeal teratoma with nephroblastic elements in a newborn with review of the literature. This is the first case of sacrococcygeal teratoma with nephroblastic elements in Chinese to our knowledge.     

Anti-N-methyl-D-aspartate receptor encephalitis with occult ovarian teratoma: a case report

A 31-year-old female was admitted with headache, memory disturbance, abnormal behavior, incontinence, confusion, complex partial seizures, decreased oxygen saturation and increased temperature. Anti-NMDAR antibodies were positive in serum and cerebrospinal fluid. Subsequently, a regimen of immunotherapy that included intravenous immunoglobulins, methylprednisolone, plasma exchange and their combinations were used. But the treatment was ineffective. Though both transvaginal ultrasonography and abdominal CT scan contrast revealed left ovarian cyst, the patient had left oophorectomy. And during surgery we found a small cyst mass contained fat-like liquid with air in her left ovarian. Pathological examination demonstrated mature cystic teratoma accompanied with brain tissue. She has made gradual and steady improvement after surgery, but not fully recovery. By combining this case with previous studies of others, we further discuss the clinical characteristics, treatment and prognosis of the disease.     

A case of ovarian mature cystic teratoma presenting as a pedunculated ileal tumor

We report on a 34-year-old Japanese woman who presented with a pedunculated ileal tumor and who was finally diagnosed as having a right ovarian mature cystic teratoma penetrating and protruding into the ileum. She had undergone laparoscopic left ovarian cystectomy, whose specimen was diagnosed as dermoid cyst when she was 27 years old. The colon fiberscope revealed an ileal polyp, diagnosed as mature teratoma. Because of adhesion to the necrotic nodule between the tumor and the right ovary, ileocecal resection and right ovarian cystectomy were performed. The ileal tumor contained tissues of skin, neuroglia, ganglion, choroid, retina, smooth muscle, as well as fibrous and adipose tissues, cartilage, bone, mucous epithelium, and bronchial structures with bronchial glands. The necrotic nodule showed abscess, granulation tissue, foreign body reaction, hairs, normal ileal epithelium, and the ovary with ovums.     

Squamous cell carcinoma arising in a mature cystic ovarian teratoma with bladder invasion: a case report

Background

Malignant transformation in a mature cystic ovarian teratoma is rare. Except in cases with high index of suspicion or overt metastasis, oophorectomy is the mainstay of treatment for ovarian teratoma.

Method

A 46-year-old perimenopausal woman who had salpingo-oophorectomy following a clinical diagnosis of benign ovarian tumour that was subsequently reported histologically as mature cystic ovarian teratoma with malignant transformation is presented.

Results

She was referred to our facility based on the histopathology report and haematuria two weeks after surgery. Cystoscopic biopsy done was reported as metastatic squamous cell carcinoma most probably from the ovary. Patient was thereafter referred for radiotherapy but was lost to follow-up after the first course.

Conclusion

Adequate evaluation prior to surgery in suspected ovarian teratoma with malignant transformation is critical to determine extent of surgery and adjuvant therapy. Prognosis in advanced disease condition such as the case presented is generally poor although radical pelvic surgery with resection of the adjacent involved bladder before radiotherapy would probably have improved her prognosis.     

A histochemical and immunohistological study of a testicular malignant teratoma containing embryonic and extraembryonic elements in various stages of development

A testicular malignant teratoma containing embryoid bodies and other embryonic and extra-embryonic structures in various stages of development has been examined by several histochemical and immunohistological techniques to study the distribution of various substances in the teratomatous elements. The substances demonstrated included various types of mucins; argyrophil, argentaffin, Paneth cells and haemosiderin granules; alpha-fetoprotein, alpha-l-anti-trypsin, lysozyme, beta-HCG and CEA. The significance of the findings is discussed in relation to early embryonic development.     

A benign psoas teratoma of the non‐pelvic retroperitoneal space: A case report

This case report is of a benign retroperitoneal teratoma which was adherent to the psoas muscle of a 53‐year‐old female cadaver with a history of metastatic bladder cancer as a cause of death. Teratomas possess derivatives of all three germ cell layers and are usually seen either in children or in the lower pelvic region of adults. The finding of this mass deep to the inferior pole of the kidney is quite unusual. Few studies mention a possible association between metastatic cancer and teratoma growth in extrapelvic locations. The following report is a detailed account of this unusual finding and a summary of the literature on growths of this kind. Clin. Anat. 26:638–640, 2013. © 2013 Wiley Periodicals, Inc.     

Intestinal adenocarcinoma arising in a mature cystic teratoma of the ovary: a case report

Gastrointestinal adenocarcinoma arising in mature cystic teratomas of the ovary is extremely rare. We report a case of well-differentiated intestinal adenocarcinoma arising in a mature cystic teratoma of the ovary in a 77-year-old woman, presenting as acute abdomen with ovarian torsion. An immunohistochemical study revealed expression of CK20 and CK7, and the tumor was also positive for MUC2. The patient had no evidence of disease after 12 months of follow-up.     

Isolation of three stem cell lines from human sacrococcygeal teratomas

Sacrococcygeal teratomas (SCTs) are benign tumours of the newborn with absolute indication for surgery directly after birth. We recently described the presence of stem cells positive for the stem cell markers nanog and Oct4 in SCTs. Here we report the isolation of three stem cell lines from three different SCTs. Cells were propagated in mesenchymal or in embryonic stem cell medium. Non‐clonal homogeneous stem cell lines were obtained after two to three passages and characterized in vitro by immunocytochemistry, RT‐PCR, western blot, FACS analysis, and metaphase spreads. The differentiation potential was tested in vitro and in vivo. The isolated cell lines, which we refer to as human sacrococcygeal teratoma stem cells (hSctSCs), express nanog, Oct4 and stella, and are negative for malignancy markers alpha‐fetoprotein and carcinoembryonic antigen. They can be induced in vitro to express neuronal, osteogenic, and chondrogenic traits. After grafting in vivo, spontaneous integration into the neural crest of the chick embryo and teratoma formation in the nude mouse were obtained. Our results indicate that SCTs are derived from remnants of the epiblast‐derived primitive streak, which in the human embryo normally regresses but forms teratomas in children affected with SCT. The hSctSCs therefore may be comparable to mouse epiblast‐derived stem cells (EpiSCs) and share characteristic features with human embryonic stem (hES) cells. Thus, SCT tissue obtained after surgery appears to be a novel source for the generation of human stem cells without the ethical implications associated with hES cells. Copyright © 2008 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.