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Background

Yolk sac tumor (endodermal sinus tumor) is a rare malignant germ cell tumor arising in the testis or ovary. Extragonadal yolk sac tumor is even rarer and has only been described in case reports. Due to the rarity of the tumors, the appropriately optimal treatment remains unclear. We report a case of yolk sac tumor in the seminal vesicle.

Case

A 38-year-old Asian male presented with gross hematuria and hemospermia. Transrectal ultrasound scan showed a solid mass in the left seminal vesicle and the scrotal sonography showed no abnormalities. Bilateral seminal vesicles were resected, and histopathological examination showed a typical pattern of yolk sac tumor (YST). The patient responded poorly to comprehensive treatment of radiotherapy, chemotherapy and surgeries, developed systemic multiple metastases, and died of cachexia one and half years after diagnosis.

Yolk sac tumor (YST) is a rare malignant tumor originating from germ cells. YST normally originates from the gonads, rarely occurring in extragonadal sites. We report a 35-year-old man with YST arising in the omentum, which is the first reported case of a primary YST of the omentum in an adult male. The patient presented to the community hospital with abdominal distension. A CT scan showed thickening of the omentum with ascites. The patient underwent open biopsy of the omental mass. The Pathology Department of the hospital could not make a definitive diagnosis at that time, and the tumor was considered a cancer of unknown primary (CUP) origin with features of primary colorectal cancer based on the immunohistochemistry (IHC) findings of the biopsy specimen (CK7–/CK20+ and CDX-2+). He was then referred to our hospital. We found that serum α-fetoprotein was abnormally elevated to 7,144 ng/ml (normal <10.0), and reevaluation of the biopsy specimen revealed microcystic or reticular patterns of tumor cells with Schiller-Duval bodies typical of YST. The present case suggests that IHC is a very useful diagnostic tool for subtyping CUP but should be interpreted in the context of clinical and morphological findings.

Intracranial nongerminomatous germ cell tumors (NGGCTs) in unusual locations are extremely rare. Here, we report a case of a yolk sac tumor in the frontal lobe in a middle-aged patient. A 42-year-old man was admitted to our hospital for headache and nausea. Magnetic resonance imaging (MRI) showed an enhanced mass lesion with a marked cyst component. The serum alpha-fetoprotein (αFP) level was extremely high. Histological examination of specimens after subtotal removal revealed a primary mixed germ cell tumor with extensive yolk sac tumor elements, often referred to as an intracranial “yolk sac tumor.” The preoperative diagnosis of NGGCTs in unusual age and locations is extremely difficult. Clinicians should consider the possibility of NGGCTs, including yolk sac tumors, when intracranial tumors with unusual MRI findings are encountered.

Extragonadal yolk sac tumor (YST) is a relatively rare entity. We describe here the case of an extragonadal YST that occurred in the pancreas with hepatic metastasis in an adult woman. The contrast enhanced CT images of the abdomen revealed a heterogeneous, solitary mass occupying the pancreatic neck and body with slightly inhomogeneous contrast enhancement. Two low-density lesions in the liver were also displayed on the CT images. The patient underwent surgery and the diagnosis of YST was pathologically verified.

Abstract:

Tumors of the sacrum and related neurological and pelvic structures are rare pathologic conditions.

Sacral tumors are a diagnostic challenge because patients often present with nonspecific complaints such as low back pain, sacrococcygeal joint pain, referred lag and buttock pain. Because of diagnostic and radiographic challenges, the detection of sacral mass can be delayed which complicates any prospect surgical intervention as tumors can be quite large at the time of treatment. Furthermore, the complex local anatomy of the sacrum and presence of numerous other structures make the resection procedure even more sophisticated and necessitate adoption of a multidisciplinary approach towards the treatment. The present study discuses the diagnosis, treatment and complication of 4 cases with large sacral mass.

Keywords:

Resection, Sacral, Tumor

We describe here a case of pure gastric yolk sac tumor (YST). A 62-year-old patient underwent gastrectomy with D2 dissection. The histological report confirmed the diagnosis of YST and that two of the 14 regional lymph nodes removed were metastatic. Three courses of PEB regimen chemotherapy were delivered subsequently. Three months later the patient experienced dysphagia from stenosis of the anastomosis and a computerized tomography scan showed tumor recurrence with peritoneal nodules; the patient died one year after surgery. The origin of gastric YST is unclear but involvement of migrating germ cells during embryonic development or multipotential neoplastic protoepithelial cells of the gastric mucosa have been suggested. Generally the prognosis of gastric YST is poor and the standard therapeutic approach beyond surgery is still uncertain.

Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal. We report a case of yolk sac tumor in the ectopic testis of a patient with TTE. A 24-year-old man presented to our hospital with a left inguinal-mass, right cryptorchidism and elevated alpha-fetoprotein (AFP). A left herniotomy 3 years earlier demonstrated both testes in the left scrotum, one above another positionally. Four months ago, a left scrotal mass appeared and radical orchiectomy of both testes revealed testicular yolk sac tumor of the ectopic testis. An enlarging left inguinal-mass appeared 2 months ago and he was referred to our hospital. Laboratory data showed an elevation of AFP (245.5 ng/ml) and a 46 XY karyotype. He underwent bilateral retroperitoneal lymph node dissection and simultaneous left inguinal mass dissection. Histopathologic examination revealed a diagnosis of recurrent yolk sac tumor in the left inguinal mass. The retroperitoneal lymph node was not enlarged and, on histopathology, was not involved. The patient has now been followed up for 8 months without evidence of biochemical or radiological recurrence.

Teratomas are benign tumors containing cells from ectodermal, mesodermal and endodermal layers. They occur in about 1 in every 4,000 births and most commonly in the sacrococcygeal region, followed by the ovaries. Congenital epignathus teratomas are rare embryological neoplasms localised in the region of head and neck. An epignathus is found in approximately 1:35,000–1:200,000 live births. This accounts for 2–9% of all teratomas. Size and location of the neoplasm in the oronasopharynx is variable. Teratomas are partly undiagnosed at the time of birth. They may exist with an intracranial extension or as small polyps. Large epignathi can lead to difficult management during and after birth. We present a case of a female infant with a combination of nasopharyngeal teratoma and a cleft palate with successful multidisciplinary management via a staged surgical approach. The epignathus presented as a huge mass extending out of the mouth of the infant girl. On the day of birth debulking of the extraoral portion of the tumor, followed by intraoral extirpation and cleft palate repair at a later stage, was performed. The results of the histopathological examination confirmed diagnosis of a congenital teratoma.

A nongerminomatous germ cell tumor occurring in the brain parenchyma is extremely rare. A 2-year-old boy presented with symptoms of abnormal movements in the hand and mouth. MRI scanning revealed a lesion occupying the left temporoparietal region. Craniotomy was performed and the tumor was removed by en bloc resection. Histological examination revealed that the tumor was arranged in a reticular pattern, and Schiller-Duval bodies were evident at the center of the tumor. Immunohistochemical study showed that the tumor cells were positive for alpha-fetoprotein and vimentin, but negative for glial fibrillary acidic protein. The histological diagnosis was pure yolk sac tumor).

Background

Congenital germ cell tumors are uncommon. The most common site of teratoma is in the sacrococcygeal region. Teratoma arising from the head and neck comprises less than 10% of reported cases and of these, nasopharyngeal lesions are rare. Teratomas are generally benign, and have a well recognized clinical and histopathological entity. We present a case of nasopharyngeal teratoma (NPT) associated with a wide cleft palate.

Case Presentation

A 20 day old female neonate with a teratoma of the nasopharyngeal area, and wide cleft palate was referred to our center. The protruded mass which measured 6×4×3cm, was of soft consistency, blocked the airway, and prevented oral feeding. Preoperative evaluation and imaging was performed and mass was excised 2 days after admission. Pathology revealed a well-differentiated mature solid teratoma (hairy polyp). The patient had no complication in the post-operative period. Cleft palate was surgically repaired when 2 years old. She is now a six year old girl with normal development.

Conclusion

Congenital nasopharyngeal teratomas are usually benign. Surgery is the treatment of choice, and should be undertaken on an urgent basis, especially in a patient who presents with signs and symptoms of airway obstruction.

Background. Teratomas are the most common tumors. They are usually localized in the sacrococcygeal area, while the pharyngeal localization is very rare. The number of cases of stomatopharyngeal teratomas detected prenatally via sonography is very small. Case Report. We present the case of a 24-year-old primipara at 18 weeks' gestation, that at the routine ultrasound scan, the fetus was found with an echogenic mass, filling the stomatopharyngeal cavity and protruding from the mouth. Other abnormalities were not found. Termination of pregnancy was achieved using misoprostol. A female stillborn fetus with a weight of 250 g and length of 25.5 cm was delivered. The postmortem and pathologic examination confirmed the diagnosis. Conclusion. Pharyngeal teratomas can be diagnosed with the use of ultrasounds in utero facilitating parents' counseling in early time.

Since gonadal yolk-sac tumour in pure form or as a component of mixed germ cell tumour is in the majority of patients highly malignant, its histological recognition is of great prognostic importance. Yolk-sac tumour may assume various different histological guises, which have hitherto caused considerable terminological confusion; the present paper is aimed at correlating these morphological diversities with biochemical features which are consistent with yolk-sac differentiation. Using an enzyme-bridge immunoperoxidase technique, a series of 16 gonadal germ cell tumours with a yolk-sac component were screened for the presence of alpha-fetoprotein, alpha-1-antitrypsin, and transferrin. These proteins, normally produced by human yolk sac, were demonstrable in all the morphological patterns of yolk-sac tumour we have previously described. Six malignant non-germ cell tumours were submitted to the same investigations, and no evidence of the three protein markers was found in five; one tumour, however, an oat cell carcinoma of the bronchus, stained positively for transferrin.

Images

Germ cell tumor (GCT) of the liver is extremely rare. Here, we describe a case of hepatic mixed GCT with significant sarcomatous components and elevated serum α-fetoprotein (AFP) in a 34-year-old man. Histopathologically, the tumor was composed of two GCTs components: yolk sac tumor and immature teratoma. The predominant components of immature teratoma consisted of several types of tissue that represented different germinal layers (endoderm, mesoderm and ectoderm) and showed varying degrees of differentiation with significant sarcomatous components. The yolk sac component showed positivity for AFP and cytokeratin (AE1/AE3). The immature teratoma components showed positivity for varying differentiation markers. Interphase cytogenetic analysis revealed that the yolk sac tumor and immature teratoma were positive for i(12p) and 12p over-representation. In particular, the rhabdomyoblastic components also showed typical i(12p) and 12p overrepresentation. This suggested that sarcomatous components may be associated with dedifferentiation or malignant transformation of certain mesenchymal components within teratoma.

Purpose

To report on a female patient diagnosed with Currarino’s triad in adulthood.

Case report

This case presents an adult patient with a medical history of a congenital anal atresia, a partial sacral agenesis, and a surgically treated ectopic anus. After a coincidentally observed presacral mass by MRI, due to unexplained constipation later in adulthood, Currarino’s triad was suspected in this patient. This triad consists of anorectal malformation(s), sacrococcygeal defects and a presacral mass of various origin. Further investigation confirmed the mass to be a meningocele, and showed a tethered cord and a syrinx.

Conclusions

In (young) patients with anorectal malformations, although having no other symptoms, further examination might be required to exclude Currarino’s triad. Importance of early diagnosis and multidisciplinary assessment is recommended to establish adequate treatment if needed.

Background:

Chordomas are rare tumors that arise from the remnants of embryonic notochord anywhere along the neuroaxis. Even though they may occur in an extraosseous intradural location, the most common sites include the sacrococcygeal and clivus regions. The authors report a unique presentation encompassing the pineal region with metastasis to the peritoneum after a ventriculoperitoneal (VP) shunt procedure and review the current knowledge about their pathophysiology and management. The presentation and clinical history endorse the idea that intradural extraosseous chordomas may be distinct from ecchordosis physaliphora and probably do not derive from it.

Case Description:

An 18-year-old male with previous history of VP shunt presented to the emergency room with pain and abdominal distension. Computed tomography (CT) scans revealed a mass in the pineal region and in the abdominal cavity. Histopathologic exams showed chordoma in both abdominal and cranial samples. The patient died due to systemic complications.

Conclusion:

The authors hypothesized that notochord remnants may subsist within the brain and occasionally may generate a neoplastic lesion.

Gastric teratomas are very rare tumours in children. They usually present with a palpable mass in the upper abdomen. We report a case of gastric teratoma in one and half month old male infant who presented with a palpable mass in abdomen, extending from epigastrium to the pelvis. Ultrasound of abdomen revealed a huge mass with solid and cystic components. CT scan delineated calcifications in the mass. The preoperative diagnosis was a teratoma but not specifically gastric one. The mass was excised completely with seromuscular layer of the stomach wall. The histopathology confirmed it to be grade-3 immature gastric teratoma. The rarity of the origin of teratoma in addition to its immature variety prompted us to report the case.

Primary yolk sac tumour of the liver is exceedingly rare. A 28 year old woman presented with a cystic liver mass and a markedly raised serum alpha-fetoprotein concentration. She underwent a partial hepatectomy for a suspected hepatocellular carcinoma but histological examination of the tumour revealed the classical morphological and immunohistochemical features of a yolk sac tumour. There was no evidence of an extrahepatic primary source. Review of this case, together with the six previously reported adult cases of primary yolk sac tumours of the liver, revealed several features of the tumour that may aid differentiation from hepatocellular carcinoma, with potential therapeutic implications.

Images

This study reviews a case of a large cystic anorectal teratoma successfully treated with a combined laparoscopic abdomino-paracoccygeal resection.

Sacrococcygeal teratoma rarely presents in adulthood (reported incidence of 1:87 000). It is more common in females. Adult anorectal teratoma is a rare variant of sacrococcygeal teratoma. The majority of tumors spare the sacrococcygeal bone. The size and location of the tumor within the pelvis dictates whether it is approached surgically through a transabdominal, posterior, or a combined approach. We present in this article the case of a young woman with a large cystic anorectal teratoma treated successfully with a combined laparoscopic abdomino-paracoccygeal resection.

Teratoma is a tumor that forms triploblastic tissues and the common sites of occurrence are sacrococcygeal lesions and the ovaries. The majority of cases are curable with surgical resection and the prognosis depends on the extent and histological scoring of the tumor. In the present study, we report a case of sacrococcygeal teratoma of a newborn showing features of a retina-like structure. A 29-year-old woman gave birth prematurely to an infant girl with sacrococcygeal teratoma. Surgical resection was performed 10 days after delivery. The tumor contained immature components as well as a retina-like structure. Several investigations, including immunohistochemical analysis, confirmed the similarities between the normal mouse retina and the retina-like structure of the tumor. The vascular arrangement and polarity surrounding the retina-like structure are unique and this is thought to be significant in the induction of structural differentiation. Our findings may provide insights into the matter of teratogenic activity in stem cell therapies for clinical applications.

A xenograft line, HX 53, has been established in immune-suppressed mice from a specimen of a lymph node metastasis in a patient with a histological diagnosis of seminoma but with markedly raised circulating levels of alpha-fetoprotein. Histological, immunocytochemical, and ultrastructural studies of this xenograft line have suggested that a solid variant of yolk sac carcinoma may exist, which morphologically resembles seminoma, or that a continuum of differentiation exists between seminoma and yolk sac carcinoma.

Images

We report an unusual case of Ewing's sarcoma / primitive neuroectodermal tumor (PNET) of the sacral nerve plexus in a 9-year-old boy who presented with a soft tissue swelling and severe piercing pain in the lower back region. MRI of the lumbosacral spine showed a lobulated soft tissue mass with clubbed finger-like projections along the path of the sacral nerves, which had caused widening of the spinal canal and the sacral foramina (S2–S4 level). There was presacral extension and posterior scalloping of the sacral vertebrae. Histopathology of the lesion confirmed Ewing's sarcoma / PNET of the sacral spinal nerve plexus. The patient responded favorably to chemotherapy and radiotherapy, showing clinical and radiological improvement.

Introduction

Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with syndromes or other congenital abnormalities. The anomalies associated with both disorders determine the timing and approach to surgical correction. We present an unusual case of a patient with both imperforate anus and a pseudotail in the absence of a syndrome or other associated anomalies and we emphasize the necessity of a thorough preoperative evaluation.

Case presentation

A Caucasian girl was born at term after an uncomplicated pregnancy and was noted at birth to have a skin-covered posterior midline mass and imperforate anus with a fistula to the vaginal vestibule. Ultrasound and magnetic resonance imaging revealed a predominately fatty lesion without presacral extension and ruled out associated spinal and cord abnormalities. The patient underwent diversion with colostomy and a mucous fistula in the newborn period as a fistulogram demonstrated a long fistulous tract to normal rectum and it was anticipated that anoplasty and resection of the mass would require extensive posterior dissection. The sacrococcygeal mass was removed during posterior sagittal anorectoplasty at the age of six weeks which was determined to be a pseudotail because of the composition of brown fat and cartilage. The patient is now 14 months old with normal bowel function after a colostomy takedown.

Conclusion

A comprehensive preoperative assessment and thoughtful operative plan were necessary in this unusual case because of the extensive differential diagnosis for sacrococcygeal masses in the newborn and the frequency of anomalies and syndromes associated with tail variants and imperforate anus. The pediatricians and neonatologists who initially evaluate such patients and the surgeons who correct these disorders must be aware of the potential pitfalls in their management.

Although the sacrococcygeal area is the most common site for a teratoma in infants, it is a rare site for a teratoma in older patients. Most of the teratomas found in this area in adults are single mass, but in a few cases, multiple masses have been reported. The author reports on the case of an 18-year-old female patient with 3 presacral teratomas. The tumors were surgically removed via a transabdominal approach and were pathologically diagnosed as mature cystic teratomas. This case report indicates that an adult presacral teratoma can appear as multiple tumors, although it is very unusual.

We have analyzed the DNaseI sensitivity of chromatin from the rat albumin and alpha-fetoprotein genes in the fetal liver (which synthesizes albumin and alpha-fetoprotein), adult liver (which synthesizes albumin), fetal yolk sac (which synthesizes alpha-fetoprotein), and adult kidney (which synthesizes neither). Active genes were much more sensitive than their kidney counterparts, and the adult liver alpha-fetoprotein and fetal yolk sac albumin genes showed intermediate levels of sensitivity. Sensitivity was analyzed as a function of the extent of DNaseI digestion. Rate constants were calculated for the degradation of individual DNA hybridization bands and normalized to the intrinsic rate constants of the same bands degraded in purified DNA. This enabled us to eliminate the inconsistencies that otherwise result from comparing chromatin sensitivity of different DNA sequences, or chromatin sensitivity in different nuclear environments.

Images

Sacrococcygeal teratoma accounts for half of all fetal tumors, with a prevalence of 1 : 40,000 births. It is believed to originate from pluripotent cells in Hensen's nodule. Although most are benign, they are associated with high morbidity and mortality rates because the fetus develops congestive heart failure and hydrops. Factors leading to poor prognosis include solid components in the mass, and hydrops diagnosed before the 30th week. A case of prenatal sacrococcygeal teratoma diagnosed using B-mode and color Doppler two-dimensional ultrasonography (2DUS) is described, in which three-dimensional ultrasonography (3DUS) enabled characterization of the extent of fetal lesions and allowed the parents to understand the pathological condition better. A 20-year-old primigravida was referred with a solid mass diagnosed in the lumbosacral spine. Examinations performed at our institution revealed pregnancy of 23 weeks and 4 days, with a female fetus presenting a bulky solid mass with cystic components and calcifications, measuring 7.7 × 9.1 × 12.2 cm, starting from the sacral region, with internal flow seen on color Doppler. A new ultrasound confirmed fetal death at 25 weeks and 4 days. Postnatal findings confirmed the diagnosis of sacrococcygeal teratoma. 3DUS can be used in cases of sacrococcygeal teratoma to assess the development of tumor during the prenatal and to allow better understanding of this anomaly by the parents.