Long-term functional outcome of sacrococcygeal teratoma after resection in neonates and infants: a single-center experience.

PURPOSE: This study aimed to evaluate the incidence and factors associated with long-term functional outcomes of sacrococcygeal teratoma (SCT) after resection in neonates and infants. METHODS: Twenty-nine patients with a minimum of 3 years of follow-up who underwent resection and were histologically diagnosed with SCTs between 1982 and 2017 at our institution were included. RESULTS: The median age at the time of the study was 10.0 years. Functional disorders occurred after surgery in 6 (20.7%) patients. Anorectal dysfunction, urologic dysfunction, and lower-extremity motor disorders occurred in 6 (20.7%), 4 (13.8%), and 3 (10.3%) patients, respectively. One patient with all three types of functional disorders developed intestinal perforation due to ileus and died of sepsis at 13 years of age. The overall mortality rate after tumor resection was 3.4%. The patients who developed functional disorders presented a low 1-min Apgar score, larger tumors requiring abdominosacral resection, surgical injury to the pelvic organs, and immature or malignant histological findings. CONCLUSION: Although the mortality rate was low, the long-term rate of functional disorders after SCT resection was approximately 20%. SCT patients with large tumors, surgical injury to the pelvic organs, and immature or malignant histological findings require thorough follow-up.

Ovarian dermoid cyst presenting with unusual complaint of hair coming out of the anal orifice - A case report.

Dermoid cyst of the ovary is a common benign condition. It is usually asymptomatic but can present with pain, mass, hormone related symptoms or paraneoplastic syndrome. Hair is a common morphological component of the dermoid cyst; however, it rarely manifests as a presenting complain. We report a case, who presented with the complaints of hair coming out through her anal orifice for a year. Ultrasound and computed tomography scan revealed a dermoid cyst of the right ovary adherent to the rectum. Surgical removal showed hair coming out of the cyst. Primary repair of the defect in rectal wall was performed which resulted in resolution of the symptoms.

Atypical Teratoid Rhabdoid Tumor of the Cauda Equina in a Child: Report of a Very Unusual Case.

Atypical teratoid/rhabdoid tumors (AT/RT) are highly aggressive malignant primitive neoplasms that commonly occur in children younger than 2 years of age. The prognosis is generally dismal with a median survival time of <1 year. The majority of AT/RT occur in the posterior fossa and less frequently the supratentorium. Primary pediatric spinal AT/RT are exceedingly rare and only 15 cases have been reported to date. Here we report a very unusual case of primary spinal AT/RT extensively involving the spinal cord from T11 down to the cauda equina. In this patient, the tumor was highly aggressive and resulted in extensive dissemination into the nerve roots and paraspinal soft tissue rapidly resulting in the patient's death 1 month after diagnosis. to the best of our knowledge, this degree of involvement of the spine by a primary AT/RT has not been described before.

Oncocytic and tall columnar type papillary thyroid carcinoma arising on a mature cystic teratoma: A case report and literature review.

Mature cystic teratoma (MCT) is the most common germ cell ovarian tumour, which accounts for 15-20% of all ovarian neoplasms. The frequency of MCT cases undergoing malignant transformation ranges from 0.17% to 2%. Our aim for presenting this case is to contribute to formation of an algorithm in the literature for the treatment and follow-up of MCT undergoing malignant transformation. A 38-year-old female patient presented to the emergency service with acute abdomen. The patient underwent salpingo-oophorectomy due to a prediagnosis of ovarian torsion with a dermoid cyst. Postoperative pathological examination reported oncocytic and tall columnar type papillary thyroid carcinoma arising on a mature cystic teratoma. During the follow up no local recurrences or metastases were identified in one-year. The rarity of MCT cases undergoing papillary type thyroid carcinoma transformation hinders the establishment of an algorithm for treatment and follow-up in literature.

Need for urodynamic evaluation as a regular follow-up tool in assessment of long-term urological outcomes in patients with sacrococcygeal teratoma.

AIM: To assess the long-term urologic outcomes in follow-up of patients of sacrococcygeal teratoma (SCT) using urodynamic study (UDS) in addition to clinical and radiologic evaluation. METHODS: A prospective study of clinical, radiological and urodynamic evaluation in patients with SCT who underwent resection between January 2002-June 2015 and were followed up till January 2016 was conducted. RESULTS: Total 57 patients, 42 (73.7%) females and 15 (26.3%) males with 35 (62.4%) following treatment for benign and 22 (38.5%) for malignant disease were included. Twenty-eight of 57 (49.12%) had urological problems. Clinical complaints in 21 (36.8%) patients included stress urinary incontinence-14 (66.7%), enuresis-9 (42.9%), and poor stream or dribbling of urine-6 (28.6%). Eight of 51 patients (15.7%) had abnormal ultrasound findings, which included contracted, trabeculated thick walled bladder (3), bilateral hydronephrosis (3) and significant post void residue (PVR) (6). Seven of 57 underwent micturating cystourethrogram (MCU), 5 had an abnormal report[significant PVR (4), small trabeculated bladder (3), reflux (2) and large capacity bladder (1)]. Urodynamic study was done in 27 patients, 18/27 (66.7%) had abnormalities. Six patients without any clinical or ultrasonographic abnormalities had abnormal UDS. Total 28 (49.12%) had urological comorbidities. Three patients had overactive bladder, five dysfunctional voiding, one underactive bladder and one had giggle incontinence. Children were managed by behaviour therapy and pharmacotherapy. CONCLUSION: Urodynamic evaluation could detect abnormalities in patients who had no urinary complaints or abnormality on ultrasound. The abnormalities have a potential for progressive upper tract damage. Urodynamics should be an integral part of urological surveillance in patients operated for SCT. TYPE OF STUDY: Prognostic study. LEVEL OF EVIDENCE: Level II (Prospective cohort study).

Anti-N-methyl-D-aspartate receptor antibody encephalitis: An important cause of encephalitis in young adults. A report of two cases.

Encephalitis is a clinical syndrome which can include altered mental status, motor and sensory deficits, altered behavior including personality changes, speech and movement disorders and seizures. While the overall incidence of encephalitis is not known, it is common enough that most pediatric and adolescent medicine physicians will have seen at least one case. Peak times of risk include the newborn period and middle-to-late adolescence. 1 It is important for clinicians to have a working knowledge of the broad range of encephalitis etiologies: viral, post-viral, toxic, auto-immune, and paraneoplastic. We discuss two cases of encephalitis in young adult women with ovarian teratoma and production of anti-N-methyl-D-aspartate receptor (NMDAR) antibodies.

The Origin of a New Progenitor Stem Cell Group in Human Development.

The observation of two precursor groups of the early stem cells (Groups I and II) leads to the realization that a first amount of fetal stem cells (Group I) migrate from the AMG (Aortal-Mesonephric-Gonadal)-region into the aorta and its branching vessels. A second group (Group II) gains quite a new significance during human development. This group presents a specific developmental step which is found only in the human. This continuation of the early development along a different way indicates a general alteration of the stem cell biology. This changed process in the stem cell scene dominates the further development of the human stem cells. It remains unclear where this phylogenetic step first appears. By far not all advanced mammals show this second group of stem cells and their axonal migration. Essentially only primates seem to be involved in this special development.

Testicular teratomas: a growing problem?

Testicular teratomas represent a specific entity within the group of germ-cell tumours. They may comprise elements of all three germ layers. In contrast to prepubertal benign teratomas observed in infants and adolescents, postpubertal teratomas originate from the malignant germ-cell precursor. Given the good prognosis and curability of most patients with germ-cell tumour, medical oncologists and urological surgeons must be well acquainted with the principles of teratomas management. Surgery plays the decisive part in teratomas treatment, as these tumours are resistant to radio- and, to some extent, chemotherapy. In this article we concentrate on the management of post-chemotherapy resection of teratomatous masses, with special attention to the phenomenon of 'growing teratoma syndrome' and somatic-type transformation of teratomas. To understand the nature of teratomas better, we begin with a glimpse of their biological, molecular and immunohistochemical features. Managing germ-cell tumours, teratomas in particular, in high-volume reference centres is of utmost importance to maintain and increase the survivorship rate in these patients.

Assessment of established techniques to determine developmental and malignant potential of human pluripotent stem cells.

The International Stem Cell Initiative compared several commonly used approaches to assess human pluripotent stem cells (PSC). PluriTest predicts pluripotency through bioinformatic analysis of the transcriptomes of undifferentiated cells, whereas, embryoid body (EB) formation in vitro and teratoma formation in vivo provide direct tests of differentiation. Here we report that EB assays, analyzed after differentiation under neutral conditions and under conditions promoting differentiation to ectoderm, mesoderm, or endoderm lineages, are sufficient to assess the differentiation potential of PSCs. However, teratoma analysis by histologic examination and by TeratoScore, which estimates differential gene expression in each tumor, not only measures differentiation but also allows insight into a PSC's malignant potential. Each of the assays can be used to predict pluripotent differentiation potential but, at this stage of assay development, only the teratoma assay provides an assessment of pluripotency and malignant potential, which are both relevant to the pre-clinical safety assessment of PSCs.

Ovarian teratoma associated with anti-NMDA (N-methyl D-aspartate) receptor encephalitis.

Anti-N-methyl D-aspartate receptor (NMDAR) encephalitis is a paraneoplastic, immune-mediated encephalopathy with a known association with ovarian teratomas. We present the first case in the UK of a 7-year-old patient presenting with this condition. Having been previously fit and healthy, the patient presented with an acute onset of cognitive disturbances. The initial suspicion was that of an infective encephalopathy; however, the lumbar puncture results were negative. Electroencephalography reported diffuse background slowing, supporting a diagnosis of encephalopathy. Extensive autoimmune screening was done and found to be positive for anti-NMDAR antibodies. A whole body MRI found a right adnexal lesion consistent with ovarian teratoma. At laparoscopy, the right ovary was excised and histology confirmed a mature cystic teratoma with neural tissue. There were no postoperative complications with the patient's neurology recovering progressively at follow-up.

Bezold-Jarisch reflex occurred in a pediatric patient with giant intra-abdominal teratoma during induction of anesthesia: A case report.

RATIONALE: Bezold-Jarisch reflex (BJR) occurs when the cardioinhibitory receptors in the walls of ventricles are activated by various stimuli, with typical features of bradycardia, vasorelaxation, and hypotension. This reflex usually happens in parturient intrathecal anesthesia, as a result of decreased venous return by compression of inferior vena cava, but it is only rarely reported during general anesthesia. PATIENT CONCERNS: Severe bradycardia and hypotension, indicating BJR, occurred during the induction of general anesthesia in a 3-month-old female child with giant intra-abdominal teratoma. DIAGNOSES: A giant intra-abdominal teratoma was detected by computed tomography scanning. The decreased left ventricular ejection faction along with increased troponin I and N-terminal pro-B-type natriuretic peptide indicated a preoperative mild cardiac dysfunction. BJR was diagnosed on the basis of the severe bradycardia and hypotension observed during the induction of general anesthesia, INTERVENTIONS:: Atropine failed to increase heart rate. Cardiopulmonary resuscitation was initiated immediately and epinephrine was injected intravenously because of sudden circulatory collapse. Soon after the return of spontaneous circulation, a central venous line was placed and invasive blood pressure was monitored. Vital signs and homeostasis were kept stable during teratoma resection. OUTCOMES: The child was extubated after emergence from anesthesia in the operating room. Eleven days later, she had recovered without complications and was discharged. LESSONS: General anesthesia should be induced with great care in patients with giant intra-abdominal masses, and the patient should be kept in the left-lateral table tilt position before induction.

The added value of f-TAPSE in the surveillance of pregnancies complicated by fetal and placental tumors.

INTRODUCTION: Fetal and placental tumors are associated with high prevalence of obstetrical complications and poor fetal outcome. The aim of our study was to assess the added value of serial fetal Tricuspid Annular Plane Systolic Excursion (f-TAPSE) measurements for monitoring cardiac function in cases of fetal and placental tumors. METHODS: Serial measurements of f-TAPSE were performed prospectively in fetuses referred for fetal and placental tumors. The patients were followed longitudinally every 2 weeks. In each visit, tumor measurements, Doppler flow indices, fetal cardiothoracic index and measurements of f-TAPSE were performed. RESULTS: During the study period, 11 fetuses were followed prospectively: seven chorioangiomas and four fetal tumors. In eight cases, the f-TAPSE was measured in the upper range for gestational age. In three cases of small or poorly vascularized tumors, the measurements were within the 50th percentile for gestational age. In two cases who presented with elevated f-TAPSE, a regression in the f-TAPSE percentile was observed: in the first case, the tumor regressed; however, in the second case, the f-TAPSE pseudo normalized and was followed by cardiac decompensation. CONCLUSIONS: f-TAPSE may serve as a complementary tool for assessing tumors associated hyper-dynamic state and early diagnosis of cardiac decompensation. © 2017 John Wiley & Sons, Ltd.

Analysis of treatment of large abdominal malignancies in children complicated with abdominal compartment syndrome: Report of six cases.

To explore effective treatment of large abdominal malignancies in children complicated with abdominal compartment syndrome (ACS).Six children with large abdominal malignancies complicated with ACS were admitted to our department from January 2013 to January 2016, and the changes in their breathing, heart rate, oxygen saturation, abdominal circumference, bladder pressure, and urine output, as well as the treatment measures and outcomes, were retrospectively analyzed.The 6 children included 1 child with bilateral nephroblastoma, 1 child with abdominal alveolar rhabdomyosarcoma, 1 child with right ovarian malignant teratoma complicated with abdominal glioma, 1 child with abdominal malignant teratoma, 1 child with right nephroblastoma, and 1 child with left adrenal gland neuroblastoma. All patients were treated in a timely manner. The first 4 children underwent abdominal cavity decompression through surgical resection of the tumor, and the ACS was successfully cured allowing for follow-up care, whereas the last 2 patients failed to receive emergency surgery and eventually died due to the gradual aggravation of ACS.Decompression through surgical resection of the tumor is the only effective measure for treating large abdominal malignancies in children complicated with ACS.

Analysis of Recurrent Sacrococcygeal Teratoma in Children: Clinical Features, Relapse Risks, and Anorectal Functional Sequelae.

BACKGROUND Sacrococcygeal teratoma (SCT) is a relatively uncommon tumor. Recurrence with poor survival and anorectal dysfunction are the 2 leading problems for patients. Here, we would review the clinic features of patients with SCTs in our hospital to identify risk factors of recurrent SCTs and to analyze anorectal functional sequelae. MATERIAL AND METHODS A retrospective review of all patients with SCTs in our center between 2007 and 2013 was performed. We analyzed the recorded data on each patient and performed follow-up through phone calls. RESULTS Our study included 105 inpatients (78 girls and 27 boys); 104 cases underwent surgical resection, and 62.5% cases had a mature histopathology. The proportion of malignant teratomas rose with increasing age. Fifteen children developed recurrent SCTs with a median of 11.5 months, and most of them had an elevation of AFP levels. Four recurrent children experienced a second tumor relapse. We observed a statistically significant difference in survival rate through Kaplan-Meier method between relapsed (66.7%) and non-relapsed (94.4%) patients. In univariate analysis, incomplete primary resection and malignant histology were proven to increase recurrence risks. Nearly half of patients had at least 1 of the parameters reflecting abnormal bowel function (e.g., involuntary bowel movements, fecal incontinence, and constipation). For those recurrent SCTs patients, difficulty defecating was a major problem. CONCLUSIONS Tumor recurrence affected the prognosis of children with SCT. In our research, incomplete resection and malignant histology were considered risk factors. Constipation was the main problem in anorectal functional sequelae for children who had recurrence.

Overexpression of TEAD4 in atypical teratoid/rhabdoid tumor: New insight to the pathophysiology of an aggressive brain tumor.

BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal brain tumor that occurs mainly in early childhood. Although most of the tumors are characterized by inactivating mutations of the tumor suppressor gene, SMARCB1, the biological basis of its tumorigenesis and aggressiveness is still unknown. PROCEDURE: We performed high-throughput copy number variation analysis of primary cell lines generated from primary and relapsed tumors from one of our patients to identify new genes involved in AT/RT biology. The expression of the identified gene was validated in 29 AT/RT samples by gene expression profiling, quantitative real-time polymerase chain reaction, and immunohistochemistry (IHC). Furthermore, we investigated the function of this gene by mutating it in rhabdoid tumor cells. RESULTS: TEAD4 amplification was detected in the primary cell lines and its overexpression was confirmed at mRNA and protein levels in an independent cohort of AT/RT samples. TEAD4's co-activator, YAP1, and the downstream targets, MYC and CCND1, were also found to be upregulated in AT/RT when compared to medulloblastoma. IHC showed TEAD4 and YAP1 overexpression in all samples. Cell proliferation and migration were significantly reduced in TEAD4-mutated cells. CONCLUSIONS: We report the overexpression of TEAD4 in AT/RT, which is a key component of Hippo pathway. Recent reports revealed that dysregulation of the Hippo pathway is implicated in tumorigenesis and poor prognosis of several human cancers. Our results suggest that TEAD4 plays a role in the pathophysiology of AT/RT, which represents a new insight into the biology of this aggressive tumor.

Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.

Acardiac twin pregnancies part II: Fetal risk of chorangioma and sacrococcygeal teratoma predicted by pump/acardiac umbilical vein diameters.

BACKGROUND: We recently published pump/acardiac umbilical venous diameter (UVD) ratios, representing the pump twin's excess cardiac output fraction, of 27 acardiac twin pregnancies. There was a clear separation between the 17 pump twins that had life-threatening complications and the 10 that did not. The hypothesis of this study is that placental chorangioma and sacrococcygeal teratoma (SCT), tumors whose perfusion also causes high-output complications, have the same fetal outcome as pump twins when perfusion of the tumor requires the same excess cardiac output fraction. METHODS: We compared the three fetoplacental circulations. Fetuses with a placental chorangioma and acardiac twin pregnancies both have their feeding artery and draining vein located at the placental cord insertion. In contrast, SCT lacks a prescribed feeding artery and draining vein. We, therefore, had to modify our model to assume that the diameter of the hypothetical draining vein is related to the flow difference between inferior vena cava and superior vena cava. The latter flow has been estimated sonographically and is the same as the inferior vena cava flow in the absence of an SCT. Furthermore, a simple modification accounts for the different location of the tumor with respect to the placental cord insertion. RESULTS: We propose to apply the clinical pump/acardiac UVD ratios to pregnancies complicated by placental chorangiomas and the modified pump/acardiac UVD ratios for SCT. CONCLUSION: Risk prediction of these rare fetal tumors may be possible based on application of data on excess cardiac output fractions from pump/acardiac UVD ratios and will require future clinical validation. Birth Defects Research (Part A) 106:733-738, 2016. © 2016 Wiley Periodicals, Inc.