Malignant mediastinal germ cell tumors are a rare disease and represent only 1% to 4% of all mediastinal tumors. Gonadal germ cell tumors are generally the most common type and constitute 90% of germ cell tumors. The mediastinum is the second most frequently affected area ahead of other extragonadal areas, which include the retroperitoneum, the sacrococcygeal area, and the central nervous system. We report on the case of a mediastinal yolk sac tumor with a complete histological response to chemotherapy.
A 26-year-old Moroccan man, without a medical or surgical history, presented with a four-month history of chest distress, dyspnea, and a frequent dry cough for the previous month. A computed tomographic scan of the chest revealed a bulky mediastinal mass, which was biopsied. Histologically, the tumoral mass proved to be a yolk sac tumor. The serum level of alpha-fetoprotein of this patient was elevated to 19052 ng/ml.
After 4 courses of preoperative chemotherapy, the patient underwent a surgical resection of the tumor, with a complete pathologic response.
At the time of writing, the patient is alive with complete remission without any evidence of recurrence.
Primary mediastinal Yolk sac neoplasm represent a unique entity, and as such require specialized management. The diagnosis should be made not only by morphological studies but the patient’s age and the elevation of serum alpha-fetoprotein should also be considered. The utilization of cisplatin-based chemotherapy is associated with the best chance of a cure for this disease. This should be followed by surgical resection of the residual tumor in the nonseminomatous germ cell tumor.
Mediastinal nonseminomatous germ cell tumors; Complete pathologic response; Cisplatin-based chemotherapy
Chordomas are relatively rare lesions of the bones. About 30% occur in the sacrococcygeal region. Surgical resection is still the standard treatment. Due to the size, proximity to neurovascular structures and the complex anatomy of the pelvis, a complete resection with adequate safety margin is difficult to perform. A radical resection with safety margins often leads to the loss of bladder and rectal function as well as motoric/sensoric dysfunction. The recurrence rate after surgery alone is comparatively high, such that adjuvant radiation therapy is very important for improving local control rates. Proton therapy is still the international standard in the treatment of chordomas. High-LET beams such as carbon ions theoretically offer biologic advantages in slow-growing tumors. Data of a Japanese study of patients with unresectable sacral chordoma showed comparable high control rates after hypofractionated carbon ion therapy only.
Methods and design
This clinical study is a prospective randomized, monocentric phase II trial. Patients with histologically confirmed sacrococcygeal chordoma will be randomized to either proton or carbon ion radiation therapy stratified regarding the clinical target volume. Target volume delineation will be carried out based on CT and MRI data. In each arm the PTV will receive 64 GyE in 16 fractions. The primary objective of this trial is safety and feasibility of hypofractionated irradiation in patients with sacrococygeal chordoma using protons or carbon ions in raster scan technique for primary or additive treatment after R2 resection. The evaluation is therefore based on the proportion of treatments without Grade 3–5 toxicity (CTCAE, version 4.0) up to 12 months after treatment and/or discontinuation of the treatment for any reason as primary endpoint. Local-progression free survival, overall survival and quality of life will be analyzed as secondary end points.
The aim of this study is to confirm the toxicity results of the Japanese data in raster scan technique and to compare it with the toxicity analysis of proton therapy given in the same fractionation. Using this data, a further randomized phase III trial is planned, comparing hypofractionated proton and carbon ion irradiation.
ClinicalTrials.gov Identifier: NCT01811394.
Sacral chordoma; Chordoma; Carbon ion therapy; Proton therapy; Irradiation; Randomized trial; Hypofractionation; Heavy ion therapy
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.
Germ cell tumor; Yolk sac tumor; Omentum; Immunohistochemistry
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.
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; Seminal vesicle; Extragonadal
Yolk sac tumor (YST), also known as an endodermal sinus tumor, is a rare malignant germ cell tumor. Primary retroperitoneal YST (PRYST) is extremely rare and, to the best of our knowledge, has only been described in case reports. The histogenesis of PRYST and the appropriate treatment strategy remain unclear due to the rarity of this type of tumor. The present study reports a case of YST in the retroperitoneum. A 19-year-old female presented with abdominal distension and edema of the lower limbs. A computed tomography scan revealed a large, solid mass located in the retroperitoneum. The tumor size was 20×25×30 cm and widespread metastasis was identified during the exploratory laparotomy. The postoperative histopathology report showed a malignant retroperitoneal tumor (although a YST was initially considered). The patient underwent three surgical procedures and 17 cycles of five different chemotherapy regimens. The patient succumbed to cachexia, which was due to tumor recurrence, and liver and spleen metastases 21 months after diagnosis. PRYST may relapse following surgical treatment; however, surgical resection is currently the optimal treatment method. In this case, bleomycin, etoposide and cisplatin; bleomycin, vincristine and cisplatin; and vincristine and cisplatin chemotherapy regimens were effective for the patient with PRYST, although the tumor was not completely resected. α-fetoprotein (AFP) is an important tumor marker for monitoring PRYST recurrence and observation of elevated serum AFP levels during chemotherapy indicates a poor prognosis.
yolk sac tumor; primary retroperitoneal; chemotherapy; α-fetoprotein; prognosis
Sacrococcygeal yolk sac tumor (YST) is an extremely rare malignant extra-gonadal germ-cell tumor, which usually succeeds to the degeneration of more common benign teratoma. We describe here an unprecedented case of conus medullaris compression by a spinal metastasis from a pure sacrococcygeal YST in a 1½ years old girl, which was misdiagnosed initially as an anal fissure and stress the need of a meticulous clinical examination and further screening in young patients presenting with sphincter disturbances.
Conus medullaris compression; extra-gonadal yolk sac tumor; prognosis; sacrococcygeal tumor
Chordoma is a relatively rare tumor originating from the embryonic remnants of the notochord. This is an aggressive, slow growing and invasive tumor. It occurs mostly at the two ends of neuroaxis which is more frequent in the sacrococcygeal region. Chordoma in vertebral column is very rare. This tumor is extradural in origin and compresses neural tissues and makes the patient symptomatic. This tumor found extremely rare in the spinal region as an intradural tumor.
The present study reports a rare case of intradural chordoma tumor as well as its clinical manifestations and treatment options.
The patient was a 50-year-old female presented with 9 months history of progressively worsening neck pain, cervical spine chordoma resembling neurinoma and right arm numbness. Physical examination showed no weakness in her limbs, but she had upward plantar reflex and mild hyperreflexia. In a magnetic resonance imaging (MRI) scan of the cervical spine there was an ill-defined enhancing mass in the posterior aspect of C2-C3 body caused cord compression more severe in right side as well as foraminal scalloping. The patient underwent surgery and after midline posterior cervical incision and paravertebral muscle stripping a laminectomy was performed from C1 through C4 using a high speed drill. Needle biopsy revealed chordoma on frozen section and all of accessible parts of tumor were excised. The gross and microscopic histopathological appearance was consistent with chordoma.
Chordomas are malignant tumors that arise from remains of embryonic notochord. These ectopic rests of notochord termed “ecchordosis physaliphora “can be found in approximately 2% of autopsies. These are aggressive, slow growing, locally invasive and destructive tumors those occur in the midline of neuroaxis. They generally thought to account for 2% to 4% of all primary bone neoplasms and 1% to 4% malignant bone neoplasms. They are the most frequent primary malignant spinal tumors after plasmacytomas. The incidence has been estimated to be 0.51 cases per million. The most common location is sacrococcygeal region followed by the clivus. These two locations account for approximately 90% of chordomas. Of the tumors that do not arise in the sacrum or clivus, half occur in the cervical region, with the remainder found in the lumbar or thoracic region, in descending order of frequency. Cervical spine chordomas account for 6% of all cases. Distal metastasis most often occurs in young patients, those with sacrococcygeal or vertebral tumors, and those with atypical histological features. These tumors usually spread to contiguous anatomical structures, but they may be found in distant sites (skin, musculoskeletal system, brain, and other internal organs). Seeding of the tumor has also been reported, and the likely mechanism seems to be tumor cell of contamination during the surgical procedures. The usual radiological findings in chordomas of spine are destructive or lytic lesions with occasional sclerotic changes. They tend to lie anterolateral, rather than dorsal towards the cord, and reportedly known to invade the dura. The midline location, destructive nature, soft tissue mass formation and calcification are the radiological hallmarks of chordomas. Computed Tomography (CT) scan is the best imaging modality to delineate areas of osteolytic, osteosclerotic, or mixed areas of bone destruction.Chordoma is usually known as a hypovascular tumor which grows in a lobulated manner. Septal enhancement which reflects a lobulated growth pattern is seen in both CT and MRI and even in gross examination. Other epidural tumors include neurinoma, neurofibroma, meningioma, neuroblastoma, hemangioma, lymphoma and metastases. Their differentiation from chordoma may be difficult due to the same enhancement pattern on CT and MRI.
A dumbbell-shaped chordoma is a rare pathogenic condition. The dumbbell shape is a characteristic finding of neurinomas in spine but in spinal neurinomas extention to transverse foramina has not yet been reported. Although our case mimicked a dumbbell shaped neurogenic tumor, its midline location and destructive pattern were characteristic feature indicating a clue to the diagnosis of chordoma that was already confirmed with histopathology.
This unusual behavior of tumor extension can be explained by the soft and gelatinous nature of the tumor enabling the mass to extend or creep into the existing adjacent anatomical structures.
Cervical Chordoma, Intradural, Computed tomography
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.
To present clinical and histological features of prepubertal testicular tumors through the analysis of the long-term experiences of a single surgeon.
Materials and Methods
The charts of 48 children treated for testicular tumors from 1986 to 2010 were retrospectively reviewed. All patients underwent radical orchiectomy. The patients' ages, clinical presentations, histopathological findings, kinetics of tumor markers, and outcomes were recorded.
The patients' median age at the initial diagnosis was 19.5 months (range, 3 to 84 months). All patients presented with either a palpable mass (76%) or scrotal size discrepancy (24%). Compared with a palpable mass, scrotal size discrepancy led to delay in diagnosis by 5 months. Regarding histology, yolk sac tumors and teratomas accounted for 53% and 36% of the tumors, respectively. The mean preoperative alpha-fetoprotein (AFP) level was significantly higher in patients with yolk sac tumors than in those with teratomas (4,600 ng/mL vs. 6.3 ng/mL), and only one patient with a teratoma had a preoperative AFP value higher than 20 ng/mL. Following radical orchiectomy, 72%, 8%, and 16% of patients with a yolk sac tumor showed normalization, persistent elevation, and relapse after transient lowering of AFP, respectively. Preoperative AFP was greater in patients with non-normalization than in those with normalization. Five of six patients with non-normalization showed evidence of either vascular invasion or endolymphatic tumor emboli.
We found a higher number of yolk sac tumors than teratomas in patients with prepubertal testicular tumors. AFP was the most useful marker in the diagnosis and follow-up of childhood yolk sac tumors. Relapsed yolk sac tumors often showed pathological evidence of aggressiveness.
Adolescent; Child, Preschool; Race relations; Testicular neoplasms
The current case report presents an account of a unique surgical procedure performed to remove an extremely rare occurrence of a transsacral abdominal mass from a 24-year-old female. The patient presented with subtle sacrococcygeal pain for two months and a presacral abdominal mass derived from the right ovary. The mass was misdiagnosed as a presacral tumor based on the results of magnetic resonance imaging (MRI) performed prior to the surgery. The patient also exhibited the symptoms commonly caused by a presacral mass, however, during the surgery, the mass was not initially located under the sacrum. An ultrasound examination and an analysis of an intraoperative frozen section indicated that the mass was a mature cystic teratoma (MCT) of the ovary, located in the peritoneal cavity between the rectum and uterus. The mass was successfully resected and removed from the affected ovary through the abdominal cavity via the sacral region. A pathological examination of the tumor section confirmed a diagnosis of a MCT of the ovary.
mature cystic teratoma; ovary; presacral tumor; transsacral approach
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.
Patient: Male, 73
Final Diagnosis: Sacrococcygeal chordoma •
Symptoms: Coccycodynia • sacral pain
Clinical Procedure: —
Objective: Rare disease
Sacrococcygeal chordomas are rare and difficult to diagnose tumors.
A 73-year-old man in the last 6 months felt a pain in and around the coccyx when sitting and especially when rising from the sitting position. He consulted his family physician and was referred by him to a general surgeon with the diagnosis of pilonidal disease. During the operation, the surgeon found an unusual mass and performed a wedge biopsy of the tumor. When chordoma was returned as the diagnosis, the patient was referred to our tertiary hospital for further treatment. The sacrococcygeal chordoma was excised en bloc with the coccyx and the fifth sacral vertebra by posterior approach.
Because of minimal response to chemo- and radio-therapy, resections with wide margins at initial surgery is the most important factor influencing local recurrence.
sacrococcygeal chordoma; coccygodynia; sacral tumours
To describe 19 years of clinical experience managing pediatric patients with testicular yolk sac tumors at the Chongqing Medical University Affiliated Children’s Hospital.
This study involved a retrospective review of the records of 61 pediatric patients who presented with testicular yolk sac tumor at our institution between 1995 and 2014.
All patients presented with a painless scrotal mass. Serum alpha-fetoprotein (AFP) levels were elevated (n = 15). Ultrasonography identified the yolk sac tumors as solid masses. Color Doppler flow imaging showed rich blood flow inside and around the masses in 84.8% cases. X-ray of the scrotum showed no intrascrotal calcification (n = 38). Inguinal orchiectomy was performed in 60 patients, one case was treated with testis-sparing surgery. In 11 cases, radical dissection of the inguinal lymph nodes was performed. Histological analysis showed pathologies typical of yolk sac tumor including microcapsule and reticular structures, gland tube-gland bubble structures, an embryo sinus structure, and papillary structures. All patients received postoperative chemotherapy. Serum AFP levels returned to normal 1 to 2 months after surgery. No patients treated with surgery in our hospital relapsed.
Testicular yolk sac tumor presents as a painless scrotal mass, increased serum AFP levels, and a solid mass on ultrasound. Chest radiography and abdominal ultrasound should be used to accurately stage the tumor. We advocate for inguinal orchiectomy for Stage I disease and postoperative chemotherapy to prevent recurrence in the ipsilateral or contralateral testis.
Pediatric; Testicular yolk sac tumor; Diagnosis; Resection; Chemotherapy
The current report describes the case of a 29-year-old female with a sacral giant cell tumor (GCT) during pregnancy. Originally, the patient presented with severe pain in the lumbosacral region, radiating posterolaterally from the lumbar spine into the bilateral thigh and subsequently, into the bilateral crus posterolaterally. Plain X-rays, computed tomography and magnetic resonance imaging showed osteolytic destruction of the sacrococcygeal bones and a huge soft-tissue mass with features of a chordoma. The patient underwent a partial en bloc sacrectomy (partial S1 and completely below) and curettage for tumors located at the sacroiliac joint and underlying left ilium, with bilateral internal iliac arteries ligated to control intraoperative hemorrhage. The patient’s bilateral S2 nerve roots were killed. The diagnosis of conventional GCT was determined based on the histopathological examination of the resected specimen. Urinary and bowel functions were recovered by exercising.
giant cell tumor; chordoma; S2 nerve root; sacral tumor; rectum; urinary and bowel function
Objectives: Yolk sac tumor (YST) is a rare neoplasm that primarily occurs in the ovary in children and young women. Previously, it has been reported that the teratomatous components can be recognized in part of YSTs or appear in the contralateral ovary. Here, we report a rare case of an adult woman with a juxtaovarian YST concurrent with an ipsilateral ovarian mature teratoma. Methods: A 47-year-old woman found a pelvic mass for nine days and subsequently underwent debulking operation. The specimens were evaluated for detailed characterizations through gross examination, microscopy and immunohistochemistry. A literature review was performed and the pathogenesis was briefly discussed about the generation of an extraovarian YST concurrent with a teratoma. Results: The right juxtaovarian tumor showed typical histological patterns of YST. Immunostaining demonstrated the YST nature of Gly-3 and AFP positive tumor cells. The ipsilateral ovarian tumor was a common mature cystic teratoma with chronic fibrotic changes. According to the differences of the origin and the differentiation of the two germ cell tumors, we suspect that the occurrence of the teratoma is earlier than the YST. Conclusions: To our knowledge, this is the first report of an adult woman with a juxtaovarian YST concurrent with an ipsilateral ovarian mature teratoma.
Yolk sac tumor; extraovarian; ovarian mature teratoma; ipsilateral; concurrent; adult
Gastric adenocarcinoma with yolk sac tumor (YST) differentiation has rarely been reported. We report a case of primary gastric adenocarcinoma with yolk sac tumor differentiation and liver metastases of the YST component in a 50-years-old patient. This was suspected due to high serum level of alpha fetoprotein in the presence of a gastric fundal tumor. Gastric carcinoma with yolk sac tumor component is a rare entity with a poor prognostic outcome.
Pediatric germ cell tumors (GCT) are rare tumors: 80% are benign, 20% malignant (2-3% of all malignant pediatric tumors). The gonadal sites (ovary and testis) account for 40% of cases.
Represent 30% of GCTs and 70% of neoplastic ovarian masses, being the most common ovarian neoplasms in children and teenagers. Benign and immature forms (teratomas) constitute about 80% of all ovarian GCTs, malignant forms represent 20% increasing during adolescence. The most common malignant entity in children is the yolk sac tumors (YST); dysgerminoma is frequent during adolescence and being bilateral in 10% of cases. Presentation is similar in malignant and benign lesions; abdominal pain (70-80%) and lower abdominal mass are common symptoms. Evaluation of alpha-fetoprotein (αFP) or beta subunit of human chorionic gonadotropin (βHCG) is essential to address the nature of the tumors: Their elevation means presence of malignancy. Surgery includes intraoperative staging procedures and requires ovariectomy or ovarosalpingectomy for malignant lesions, but may be conservative in selected benign tumors. Since malignant GCTs are very chemosensitive, primary chemotherapy is recommended in metastatic or locally advanced tumors.
Represent 10% of pediatric GCT, and about 30% of malignant GCT with two age peaks: Children <3 years may experience mature teratoma and malignant GCTs, represented almost exclusively by YST, while adolescents may also show seminomas or other mixed tumors. The main clinical feature is a painless scrotal mass. Surgery represents the cornerstone of the management of testicular GCTs, with an inguinal approach and a primary high orchidectomy for malignant tumors, while a testis-sparing surgery can be considered for benign lesions. A retroperitoneal lymph node (LN) biopsy may be necessary to define the staging when the involvement of retroperitoneal LN is uncertain at imaging investigations.
Patients with gonadal malignant GCTs fare better than those with extragonadal mediastinal germ cell tumors (MGCTs) and survival rate exceeds 90% in localized forms. Chemotherapy has significantly improved the outcome of malignant forms since the introduction of platinum based regimens. The surgical procedure has to be performed in agreement with the ongoing protocols.
Children; germ cell tumors; gonadal
Ovarian tumors are the least common cause of sexual precocity in girls. Mixed germ cell-sex cord-stromal tumors associated with a yolk sac tumor of the ovary are rare neoplasms, of which only a small number of well-documented cases have been described so far. Here, we report precocious puberty in a four-year-old Egyptian girl caused by a mixed germ cell-sex cord-stromal tumor associated with a yolk sac tumor of the ovary.
A four-year-old Egyptian girl was referred to our pediatric endocrinology unit for evaluation of bilateral breast budding, pubic hair and vaginal bleeding. On examination, we found that her breast enlargement and pubic hair were compatible with Tanner III. A thorough workup revealed a large mass in her right ovary. Magnetic resonance imaging ofher brain showed that her pituitary gland was normal. A hormonal assay revealed high levels of estradiol, 280 to 375pmol/L; progesterone, 5.3 nmol/L; testosterone 38.9 pg/mL; and androstenedione, 4.1 ng/mL. Her basal and stimulated levels of luteinizing hormone and follicle-stimulating hormone were low. Tumor markers levels were high, with a total inhibin of 1,069U/L and an alpha-fetoprotein of 987 μg/L. Her chromosomes were normal (46XX). Our patient underwent an explorative laparotomy and a solid tumor localized to her right ovary was identified. A right salpingo-oophorectomy was performed and the histopathological diagnosis was a mixed germ cell-sex cord-stromal tumorwith a yolk sac tumor of the ovary. Postoperatively, she was started on treatment with chemotherapy. Our patient is doing well without evidence of tumor recurrence or metastasis during eight months of postoperative follow-up.
Although a mixed germ cell-sex cord-stromal tumor associated with a yolk sac tumor of the ovary is a rare occurrence, it should be considered in the differential diagnosis for a prepubescent girl with an abdominal mass and precocious puberty.
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.
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.
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.
Anterior sacral meningocele is a very rare clinical entity characterized by herniation of a meningeal sac through a sacrococcygeal defect. We report a case of a 20-year old female with Marfan syndrome who presented with abdominal distention that was misdiagnosed as an ovarian cyst on pelvic ultrasound. Pelvic magnetic resonance (MR) imaging showed large, well-defined multiloculated intrasacral and presacral cysts communicating via two separate broad necks and extending through defects in anterior aspect of sacral vertebrae. This case emphasizes that anterior sacral meningocele should be considered in the differential diagnosis of cases with pelvic cysts particularly in patients with underlying connective tissue disorders. Because severe neurologic complications or even death may occur without proper preoperative planning in such cases, MR imaging should always be performed for evaluation and characterization of pelvis cystic lesions.
Abdominal distension; anterior sacral meningocele; Marfan syndrome; ovarian cyst
Nonseminomatous germ cell tumors of the testis are common and are very aggressive malignant tumors. Most of the cases have metastases at the time of diagnosis, and involvement of the posterior mediastinum in particular is well known. A 33 year-old male patient presented with complaints of a swelling on the right side of the neck that had been growing for the last month, as well as shortness of breath and cough. His thoracic computed tomography (CT) showed a 1.5 cm lymph node on the anterior mediastinum and a mass of about 11 × 10 × 8 cm extending from the right lung apex to the right hilus, with regular contours and without contrast enhancement. The patient, who was given the preliminary diagnosis of a mixture metastatic bronchial tumor plus lymphoma, was subjected to transthoracic fine needle aspiration cytology (FNAC). His abdominal CT revealed a hypodense, heterogeneous and cystic necrotic mass of about 10 × 7 × 5 cm that was para-aortic at the infrarenal level (initially predicted as a lymphoma). The patient, who could not be typed in his cytopathological examination, was diagnosed with malignant epithelial tumor and was recommended to undergo a genitourinary system examination. Upon finding a high alpha fetoprotein (AFP) value, a scrotal ultra sonography was performed which showed a mass filling the right testis. Histopathological examination of the orchiectomy material resulted in the diagnosis of mixed germ cell tumor (60% mature teratoma and 40% yolk sac tumor). Even though metastatic lesions are mostly seen in the posterior mediastinum, our findings reveal that specimens obtained with FNAC from the anterior mediastinum bear discohesive, pleomorphic, small nuclei in epithelial cells with microvacoules in the cytoplasm. These cytopathological alterations in specimens from the anterior mediastinum might promote germ cell and yolk sac tumors.
Nonseminomatous germ cell tumor; testis; mixed germ cell tumor; fine needle aspiration cytology
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.
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.
Yolk sac tumor; Pancreas; Computed tomography (CT); Diagnosis
Endodermal sinus tumor (or Yolk Sac tumor) of the vagina is a rare malignant germcell tumor which is seen exclusively in children younger than 3 years of age. We report two cases of endodermal sinus tumor of the vagina. In both cases no radiological investigation was done and serum alpha-fetoprotein was elevated. The histopathological examination of both the tumor masses revealed vaginal endodermal sinus tumor. Periodic-acid-Schiff stain with diastase showed diastase resistant hyaline globules. These findings confirmed the diagnosis of endodermal sinus tumor in both cases. Vaginal endodermal sinus tumor is both locally aggressive and capable of metastasis. The serum alpha-fetoprotein level is a useful marker for diagnosis and monitoring the recurrence of vaginal endodermal sinus tumor in infants. Early detection and therapy is important because of its aggressive nature and good response to chemotherapy.
yolk sac tumor; endodermal sinus tumor; vagina; germ cell tumor; alpha-fetoprotein
Sacrococcygeal teratoma resection often brings changes in pelvic anatomy and physiology with possible consequences for defecation, micturition and sexual function. It is unknown, whether these changes have any gynecological and obstetric sequelae. Until now four pregnancies after sacrococcygeal teratoma resection have been described and cesarean section has been suggested to be the method of choice for delivery. We evaluated the pregnancy course and mode of delivery in women previously treated for a sacrococcygeal teratoma.
The records of all patients who underwent sacrococcygeal teratoma resection after 1970 in one of the six pediatric surgical centers in the Netherlands were reviewed retrospectively. Women aged 18 years and older were eligible for participation. Patient characteristics, details about the performed operation and tumor histology were retrieved from the records. Consenting participants completed a questionnaire addressing fertility, pregnancy and delivery details.
Eighty-nine women were eligible for participation; 20 could not be traced. Informed consent was received from 41, of whom 38 returned the completed questionnaire (92.7%). Thirteen of these 38 women conceived, all but one spontaneously. In total 20 infants were born, 17 by vaginal delivery and 3 by cesarean section, in one necessitated by previous intra-abdominal surgery as a consequence of sacrococcygeal teratoma resection. Conversion to a cesarean section was never necessary. None of the 25 women without offspring reported involuntary childlessness.
There are no indications that resection of a sacrococcygeal teratoma in female patients is associated with reduced fertility: spontaneous pregnancy is possible and vaginal delivery is safe for mother and child, irrespective of the sacrococcygeal teratoma classification or tumor histology.
Sacrococcygeal teratoma; Sequelae; Pregnancy; Vaginal delivery