Historical Cohort Study of Congenital Isolated Hypoganglionosis of the Intestine: Determining the Best Surgical Interventions.

No standard diagnostic method or surgical treatment for congenital isolated hypoganglionosis (CIHG) has been established. This study aimed to analyze the clinical outcomes of patients with CIHG and identify the best surgical interventions provided thus far. Data on surgical interventions in 19 patients were collected between 1992 and 2020, including the type of enterostomy, type of revision, and length of the intestines. Ganglion cells in the myenteric plexus were enumerated using Hu C/D staining. The ratio of the length of the small intestine to its height was defined as the intestinal ratio (IR). The outcomes were assessed using the stoma output, growth parameters including the body mass index (BMI), and parenteral nutrition (PN) dependency. All patients required a diverting enterostomy. The IR ranged from 0.51 to 1.75 after multiple non-transplant surgeries. The stoma types were tube-stoma, end-stoma, Santulli-type, and Bishop-Koop (BK)-type. Patients with Santulli- or BK-type stomas had better BMIs and less PN dependency in terms of volume than those with end-stomas or tube-stomas. Two patients with BK-type stomas were off PN, and three who underwent an intestinal transplantation (Itx) achieved enteral autonomy. The management of CIHG involves a precise diagnosis using Hu C/D staining, neonatal enterostomy, and stoma revision using the adjusted IR and Itx if other treatments do not enable enteral autonomy.

Detailed molecular and pathological analyses of primary intracranial embryonal rhabdomyosarcoma with a BRAF mutation: illustrative case.

BACKGROUND: The etiological significance of the RAS and PI3K pathways has been reported in systemic embryonal rhabdomyosarcoma (ERMS) but not in primary intracranial ERMS (PIERMS). Herein, the authors present a unique case of PIERMS with a BRAF mutation. OBSERVATIONS: A 12-year-old girl with progressive headache and nausea was diagnosed with a tumor in the right parietal lobe. Semi-emergency surgery revealed an intra-axial lesion that was histopathologically identical to an ERMS. Next-generation sequencing indicated a BRAF mutation as a pathogenic variation, but the RAS and PI3K pathways showed no alteration. Although there is no established reference class for PIERMS, the DNA methylation prediction was closest to that of ERMS, indicating the possibility of PIERMS. The final diagnosis was PIERMS. The patient underwent local radiotherapy (50.4 Gy) and multiagent chemotherapy, with no recurrence for 12 months after surgery. LESSONS: This may be the first case demonstrating the molecular features of PIERMS, especially the intra-axial type. The results showed a mutation in BRAF but not in the RAS and PI3K pathways, which is different from the existing ERMS features. This molecular difference may cause differences in DNA methylation profiles. Accumulation of the molecular features of PIERMS is necessary before any conclusions can be drawn.

Targeting transglutaminase 2 mediated exostosin glycosyltransferase 1 signaling in liver cancer stem cells with acyclic retinoid.

Transglutaminase 2 (TG2) is a multifunctional protein that promotes or suppresses tumorigenesis, depending on intracellular location and conformational structure. Acyclic retinoid (ACR) is an orally administered vitamin A derivative that prevents hepatocellular carcinoma (HCC) recurrence by targeting liver cancer stem cells (CSCs). In this study, we examined the subcellular location-dependent effects of ACR on TG2 activity at a structural level and characterized the functional role of TG2 and its downstream molecular mechanism in the selective depletion of liver CSCs. A binding assay with high-performance magnetic nanobeads and structural dynamic analysis with native gel electrophoresis and size-exclusion chromatography-coupled multi-angle light scattering or small-angle X-ray scattering showed that ACR binds directly to TG2, induces oligomer formation of TG2, and inhibits the transamidase activity of cytoplasmic TG2 in HCC cells. The loss-of-function of TG2 suppressed the expression of stemness-related genes, spheroid proliferation and selectively induced cell death in an EpCAM+ liver CSC subpopulation in HCC cells. Proteome analysis revealed that TG2 inhibition suppressed the gene and protein expression of exostosin glycosyltransferase 1 (EXT1) and heparan sulfate biosynthesis in HCC cells. In contrast, high levels of ACR increased intracellular Ca2+ concentrations along with an increase in apoptotic cells, which probably contributed to the enhanced transamidase activity of nuclear TG2. This study demonstrates that ACR could act as a novel TG2 inhibitor; TG2-mediated EXT1 signaling is a promising therapeutic target in the prevention of HCC by disrupting liver CSCs.

Adult cerebellar glioblastoma categorized into a pediatric methylation class with a unique radiological and histological appearance: illustrative case.

BACKGROUND: Recent studies report that cerebellar glioblastoma (GBM) is categorized into the RTK1 methylation class. GBM pediatric RTK (pedRTK) subtypes are distinct from those of adult GBM. We present a unique adult case of cerebellar GBM classified into the pedRTK subtype. OBSERVATIONS: Magnetic resonance imaging revealed a homogeneous enhancing lesion in the right cerebellum in a 56-year-old woman presenting with ataxia and dizziness. Arterial spin labeling and angiographic findings and the intraoperative orange-colored tumor appearance were reminiscent of hemangioblastoma. She showed an atypical presentation in terms of high glucose metabolism. The histological diagnosis was high-grade glioma with differentiation similar to central nervous system neuroblastoma. The methylation class was GBM pedRTK1. Consistent with this classification, immunoexpression was positive for SOX10 and negative for ANKRD55. She underwent craniospinal radiotherapy (23.4 Gy) with a boost to the tumor bed (total 55.8 Gy). Twelve courses of temozolomide therapy were administered. There was no recurrence 18 months after surgery. LESSONS: Radiological and intraoperative findings, such as hemangioblastoma and high glucose metabolism, were notable characteristics in the present case. Both glial and neuronal differentiation and SOX10 immunoexpression were presenting pathological features. Similar cerebellar GBMs might form a previously unestablished subtype. Establishing effective molecular diagnoses is important.

Comparative single-cell transcriptomes of dose and time dependent epithelial-mesenchymal spectrums.

Epithelial-mesenchymal transition (EMT) is a cellular process involved in development and disease progression. Intermediate EMT states were observed in tumors and fibrotic tissues, but previous in vitro studies focused on time-dependent responses with single doses of signals; it was unclear whether single-cell transcriptomes support stable intermediates observed in diseases. Here, we performed single-cell RNA-sequencing with human mammary epithelial cells treated with multiple doses of TGF-ß. We found that dose-dependent EMT harbors multiple intermediate states at nearly steady state. Comparisons of dose- and time-dependent EMT transcriptomes revealed that the dose-dependent data enable higher sensitivity to detect genes associated with EMT. We identified cell clusters unique to time-dependent EMT, reflecting cells en route to stable states. Combining dose- and time-dependent cell clusters gave rise to accurate prognosis for cancer patients. Our transcriptomic data and analyses uncover a stable EMT continuum at the single-cell resolution, and complementary information of two types of single-cell experiments.

Vaginal yolk sac tumor resected by a novel laparo/endoscope-assisted posterior sagittal approach: a case report.

BACKGROUND: Yolk sac tumor (YST) is a germ cell tumor that is generally associated with good prognosis in children. It has been recently reported that vaginal YSTs can be cured using chemotherapy alone. Thus, minimal invasiveness and function preservation are pre-requisites for surgical approaches. Herein, we report a case of vaginal YST that was resected in a function-preserving manner using a unique combination of surgical approaches. CASE PRESENTATION: In a 9-month-old Asian female infant, a vaginal tumor was detected while investigating for vaginal bleeding. The patient was referred to our hospital, and the tumor was diagnosed as a YST after incisional biopsy. Six courses of carboplatin-based chemotherapy were administered. Contrary to the findings in previous reports, the tumor was chemo-resistant and surgical resection was required for the residual tumor. During surgery, we utilized laparoscopic and endoscopic procedures to ensure tumor-free surgical margins at the cervix, rectum, and lateral wall of the vagina. Additionally, the posterior sagittal approach was used to easily resect the tumor, and the vagina was reconstructed leaving only inconspicuous scars in the intergluteal cleft. No complications occurred postoperatively. Pathological examination of the surgical specimen revealed tumor-free surgical margins. The patient received four cycles of intensified chemotherapy before and after the surgery. The patient has been disease-free for 6 months now. CONCLUSIONS: Our combination of laparo/endoscopic and posterior sagittal approach ensured a tumor-free macroscopic surgical margin with easier, cosmetically pleasing vaginal reconstruction, while preserving the anorectal and urinary functions. We believe that this approach could be utilized not only for vaginal YST, but also for any vaginal tumor, especially those arising from the posterior or lateral wall.

Clinical, histopathological, and molecular features of IDH-wildtype indolent diffuse glioma: comparison with typical glioblastoma.

PURPOSE: IDH-wildtype (IDHwt) diffuse gliomas are treated as glioblastoma, however, some of these may show less aggressive clinical courses. The authors investigated the clinical, histopathological, and molecular characteristics of such IDHwt indolent diffuse gliomas (iDGwt), which have not been well documented in the literature. METHODS: Adult patients with IDHwt gliomas admitted between 2011 and 2020 were surveyed. In this particular study, the clinical indolence was defined mainly as having a small enhancing lesion and a stable period for more than 1 month before surgery. The current WHO diagnostic criteria were adapted for the diagnoses. Gene mutations and copy number changes in 43 representative glioma-associated genes, MGMT promoter methylation status, and survival data were compared with those of The Cancer Genome Atlas reference cohort. RESULTS: Nine out of 180 surveyed cases (5.0%) fulfilled the present criteria of the iDGwt. Considering the representative regulatory pathways, 8 (88.9%), 4 (44.4%), and 1 (11.1%) case had genetic alterations in the PI3K/MAPK, TP53, and RB pathways, respectively. The frequency of the RB pathway alteration was significantly lower than that in the reference cohort (281 of 362 cases: 77.6%). Two cases (22.2%) showing EGFR amplification met the diagnostic criteria for glioblastoma, and the frequency was significantly lower than that in the reference cohort (412 of 426 cases: 96.7%). The overall survival (median: 37.5 months) in the present series was significantly longer than that in the reference cohort (n = 426, median: 13.9 months). CONCLUSIONS: iDGwt lacked the molecular features of glioblastoma except for the PI3K/MAPK pathway alteration.

SkewC: Identifying cells with skewed gene body coverage in single-cell RNA sequencing data.

The analysis and interpretation of single-cell RNA sequencing (scRNA-seq) experiments are compromised by the presence of poor-quality cells. For meaningful analyses, such poor-quality cells should be excluded as they introduce noise in the data. We introduce SkewC, a quality-assessment tool, to identify skewed cells in scRNA-seq experiments. The tool's methodology is based on the assessment of gene coverage for each cell, and its skewness as a quality measure; the gene body coverage is a unique characteristic for each protocol, and different protocols yield highly different coverage profiles. This tool is designed to avoid misclustering or false clusters by identifying, isolating, and removing cells with skewed gene body coverage profiles. SkewC is capable of processing any type of scRNA-seq dataset, regardless of the protocol. We envision SkewC as a distinctive QC method to be incorporated into scRNA-seq QC processing to preclude the possibility of scRNA-seq data misinterpretation.

Face and construct validity assessment of training models for intestinal anastomosis in low-birth-weight infants.

PURPOSE: It is difficult to perform intestinal anastomosis in low-birth-weight infants because the intestinal diameter is small and the discrepancy in diameter of the proximal and distal intestines is often large, but there has been no optimal-sized training model. Therefore, we developed a new intestinal anastomosis training model that imitated the size of the intestine in low-birth-weight infants, and evaluated its face and construct validity. METHODS: Two intestinal models were developed with crossMedical, Inc. using a hydrophilic acrylic material (wet model) or a polyurethane soft resin (dry model). The inner diameter of the simulated intestinal tract was 15 mm on the oral end and 6 mm on the anal end. Thirteen pediatric surgeons performed anastomosis and responded to the questionnaire. RESULTS: In the questionnaire, the wet model had significantly higher scores than the dry model in "appearance", "softness" and "usefulness for training". In the anastomotic results of the wet model, the anastomosis leak pressure was significantly correlated with the number of intestinal anastomotic experiences in low-birth-weight infants (correlation coefficient = 0.64, P = 0.035). CONCLUSIONS: The wet-type intestinal anastomosis model showed good face validity. Its leak pressure had a significant correlation with clinical experience; thus, construct validity was demonstrated.

Successful endoscopic surgical treatment of pleuroperitoneal communication in two infant cases.

BACKGROUND: Pleuroperitoneal communication (PPC) is an uncommon, but potentially life-threatening complication of peritoneal dialysis (PD). If a fistula does not close with conservative treatment, surgical repair is required. However, approximately half of these patients are forced to shift from PD to hemodialysis. Although it is important to confirm the site of the fistula to achieve a successful surgical treatment, this identification is more difficult in pediatric patients than in adults. CASE PRESENTATION: We report two infantile cases of severe PPC associated with PD. In both cases, the age at onset was less than 2 years, and right-sided pleural effusion with dyspnea was observed. PPC was diagnosed by the change in color of the pleural fluid after the injection of a dye into the peritoneal cavity. Peritoneal scintigraphy and single-photon emission computed tomography and computed tomography (SPECT/CT) were performed, and these were effective in locating the fistula site. Endoscopic surgery (video-assisted thoracic surgery (VATS) and laparoscopic surgery) was performed. Indocyanine green (ICG), which was injected into the abdominal cavity, showed the exact site of the fistula. The fistula was successfully closed by attaching an absorbable sheet to it from the thoracic side and an autograft (the falciform ligament) to it from the abdominal side in one patient. In the other patient, the fistula site was resected and sutured, and reinforced with an absorbable sheet. In both cases, PD was resumed without any complication. CONCLUSION: We successfully treated two infants of PPC by endoscopic surgery. To identify the fistula site, the ICG navigation method was useful. Even in small infants, PPC can be treated successfully by endoscopic surgical repair if the site of the fistula is identified.

Differentiating between Primary Central Nervous System Lymphoma and Glioblastoma: The Diagnostic Value of Combining 18F-fluorodeoxyglucose Positron Emission Tomography with Arterial Spin Labeling.

Using conventional magnetic resonance imaging (MRI) methods, the differentiation of primary central nervous system lymphoma (PCNSL) and glioblastoma (GBM) is often difficult due to overlapping imaging characteristics. This study aimed to evaluate the diagnostic value of combining 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) with arterial spin labeling (ASL) for differentiating PCNSL from GBM. In all, 20 patients with PCNSL and 55 with GBM were retrospectively examined. From the FDG-PET data, the maximum standardized uptake values (SUVmax) and the ratio of tumor to normal contralateral gray matter (T/N_SUVmax) were calculated. From the ASL data, the T/N ratio of the maximum tumor blood flow (relative TBFmax: rTBFmax) was obtained. Diagnostic performance of each parameter was analyzed using univariate and multivariate logistic regression analyses and receiver-operating characteristic (ROC) curve analyses. A generalized linear model was applied for comparing the performance of FDG-PET and ASL individually, and in combination. In univariate analysis, SUVmax and T/N_SUVmax were statistically higher in patients with PCNSL and rTBFmax was higher in patients with GBM. In the multivariate analysis, T/N_SUVmax and rTBFmax were statistically independent. The sensitivity, specificity, and area under the curve (AUC) for discriminating PCNSL from GBM were 100%, 87.3%, and 0.950 in T/N_SUVmax; 90%, 72.7%, and 0.824 in rTBFmax; and 95%, 96.4%, and 0.991 in the combined model, respectively. The combined use of T/N_SUVmax and rTBFmax may contribute to better differentiation between PCNSL and GBM.

Long-term Outcomes of Hypofractionated Stereotactic Radiotherapy for the Treatment of Perioptic Nonfunctioning Pituitary Adenomas.

The efficacy of stereotactic radiotherapy (SRT) has been well established for postoperative residual and recurrent nonfunctioning pituitary adenomas (NFPAs). However, the risk of visual impairment due to SRT for lesions adjacent to the optic pathways remains a topic of debate. Herein, we evaluated the long-term clinical outcomes of hypofractionated stereotactic radiotherapy (HFSRT) for perioptic NFPAs. From December 2002 to November 2015, 32 patients (18 males and 14 females; median age 63 years; range, 36-83 years) with residual or recurrent NFPAs abutting or displacing the optic nerve and/or chiasm (ONC) were treated with HFSRT. The median marginal dose was 31.3 Gy (range, 17.2-39.6) in 8 fractions (range, 6-15). Magnetic resonance imaging (MRI) and visual and hormonal examinations were performed before and after HFSRT. The median follow-up period was 99.5 months (range, 9-191). According to MRI findings at the last follow-up, the tumor size had decreased in 28 (88%) of 32 patients, was unchanged in 3 (9%), and had increased in 1 (3%). The successful tumor size control rate was 97%. Visual functions remained unchanged in 19 (60%) out of 32 patients, improved in 11 (34%), and deteriorated in 2 (6%). Two patients had deteriorated visual functions; no complications occurred because of the HFSRT. One patient developed hypopituitarism that required hormone replacement therapy. The result of this long-term follow-up study suggests that HFSRT is safe and effective for the treatment of NFPAs occurring adjacent to the ONC.

Transventricular Preforniceal Approach Combined with Endoscopic Transnasal Surgery for a Giant Pituitary Adenoma: A Case Report and Literature Review.

Giant pituitary adenomas carry significant surgical risks when treated with transsphenoidal approaches or the transcranial approach alone. Combined transsphenoidal and transcranial approaches have been reported; however, removing adenomas extending into the third ventricle may still be challenging. We report a case of giant pituitary adenoma expanding into the third ventricle, which was removed using a combined transventricular preforniceal approach and an endoscopic endonasal transsphenoidal surgery (ETSS). A 41-year-old man with headache, nausea, and a 1-week history of a visual field defect was transferred to our hospital. He had a disturbed left visual acuity, right homonymous hemianopia, and choked disc in both eyes. Preoperative magnetic resonance imaging revealed a giant pituitary adenoma with a maximum diameter of 55 mm extending from the intrasellar to the suprasellar region, thus occupying the entire third ventricle and causing hydrocephalus. The space between the anterior commissure and the fornix was expanded. The foramen of Monro was shifted backward due to compression by the tumor. He underwent maximum surgical resection using a combined transventricular preforniceal approach and ETSS. Considering technical demands and reliability, the intra- to suprasellar parts were removed by ETSS while the intraventricular part was removed through the preforniceal approach. The residual tumor in the right cavernous sinus and behind the anterior communicating artery was treated with stereotactic radiotherapy. One year after the operation, the patient leads an independent life. The combined technique of the preforniceal approach and ETSS provided a direct view of the entire third ventricle and hemostasis in the present case.

Exploring the Retinal Binding Cavity of Archaerhodopsin-3 by Replacing the Retinal Chromophore With a Dimethyl Phenylated Derivative.

Rhodopsins act as photoreceptors with their chromophore retinal (vitamin-A aldehyde) and they regulate light-dependent biological functions. Archaerhodopsin-3 (AR3) is an outward proton pump that has been widely utilized as a tool for optogenetics, a method for controlling cellular activity by light. To characterize the retinal binding cavity of AR3, we synthesized a dimethyl phenylated retinal derivative, (2E,4E,6E,8E)-9-(2,6-Dimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenal (DMP-retinal). QM/MM calculations suggested that DMP-retinal can be incorporated into the opsin of AR3 (archaeopsin-3, AO3). Thus, we introduced DMP-retinal into AO3 to obtain the non-natural holoprotein (AO3-DMP) and compared some molecular properties with those of AO3 with the natural A1-retinal (AO3-A1) or AR3. Light-induced pH change measurements revealed that AO3-DMP maintained slow outward proton pumping. Noteworthy, AO3-DMP had several significant changes in its molecular properties compared with AO3-A1 as follows; 1) spectroscopic measurements revealed that the absorption maximum was shifted from 556 to 508 nm and QM/MM calculations showed that the blue-shift was due to the significant increase in the HOMO-LUMO energy gap of the chromophore with the contribution of some residues around the chromophore, 2) time-resolved spectroscopic measurements revealed the photocycling rate was significantly decreased, and 3) kinetical spectroscopic measurements revealed the sensitivity of the chromophore binding Schiff base to attack by hydroxylamine was significantly increased. The QM/MM calculations show that a cavity space is present at the aromatic ring moiety in the AO3-DMP structure whereas it is absent at the corresponding ß-ionone ring moiety in the AO3-A1 structure. We discuss these alterations of the difference in interaction between the natural A1-retinal and the DMP-retinal with binding cavity residues.

Long-term survival of a patient with diffuse midline glioma in the pineal region: A case report and literature review.

BACKGROUND: Diffuse midline glioma (DMG) is an invasive astrocytic tumor arisen from midline structures, such as the pons and thalamus. Five cases of DMG in the pineal region have been reported, but the clinical course was poor; there was no case of survival for more than 2 years. CASE DESCRIPTION: We report the case of a 12-year-old boy with DMG in the pineal region who is living a normal daily life for more than 6 years following multimodal treatment. He complained of a headache accompanied by vomiting that had gradually worsened 1 month previously, and initial magnetic resonance imaging revealed a pineal tumor. Germinoma was initially suspected; however, a combination of chemotherapy using carboplatin and etoposide was ineffective. The first surgery was performed through the left occipital transtentorial approach (OTA); the diagnosis was DMG. After 60 Gy radiotherapy concomitant with temozolomide (TMZ), the tumor enlarged. Second surgery was performed through bilateral OTAs, and 90% of the tumor was removed. In addition, stereotactic radiotherapy (30 Gy, six fractions) was administered, and the local equivalent dose in 2 Gy/fraction reached 97.5 Gy. Maintenance chemotherapy using TMZ and bevacizumab was continued for 2 years. After finishing chemotherapy, the enhancing lesion enlarged again, and bevacizumab monotherapy was effective. Now, at 6 years after diagnosis, the patient leads an ordinary life as a student. CONCLUSION: Maximum resection and high-dose radiotherapy followed by bevacizumab may have been effective in the present case.

[Diffuse Astrocytoma with Malignant Progression after Long-term Temozolomide Monotherapy:A Case Report].

The 2016 World Health Organization brain tumor classification update may change the clinical approach toward treatment of diffuse astrocytoma(DA). Thus, more information about such cases is required. We report a case of DA, which was previously diagnosed as oligoastrocytoma. The tumor showed malignant progression after long-term temozolomide monotherapy. A 78-year-old woman presented with forgetfulness and decreased activity 12 years ago. MRI identified a T2-hyperintense lesion in the right frontal lobe. Histological diagnosis following partial resection was oligoastrocytoma. The residual tumor shrank after 65 courses of maintenance temozolomide monotherapy, which was terminated five years ago. The remaining lesion started enlarging gradually two years ago, showing enhancement on post-contrast T1WI and hyperintensity on arterial spin labeling, indicating malignant progression. The patient underwent maximum resection. The primary and the recurrent tumors were histologically reviewed. The former comprised of oligodendroglial and astrocytic tumor cells positive for IDH1R132H mutations and negative for ATRX mutations. The Ki67 index was 2.6%. Using the MethylationEPIC array, we generated a copy number profile and confirmed that the 1p/19q status was intact. The patient was ultimately diagnosed with IDH-mutant DA. The recurrent tumor showed marked proliferation of atypical glial cells with microvascular proliferation and the same immunophenotype as the primary tumor, with a Ki67 index of 13.1%. Thus, it was diagnosed as an IDH-mutant anaplastic astrocytoma and was treated with postoperative radiochemotherapy. Currently, multimodal therapy selection may be performed during initial treatment. Thus, an integrated diagnostic approach based on both histological and molecular findings is essential to identify the optimal treatment.

Comparative molecular analysis of primary and recurrent oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation: a case report.

Oligodendroglioma is defined by IDH mutation and 1p/19q codeletion. Normal TP53 status is also its molecular feature. We report a case of oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation at recurrence after temozolomide therapy. The primary and recurrent tumors shared IDH1 and TERT promoter mutations. Although 1p/19q was codeleted in the primary tumor, it was imbalanced in the recurrent tumor harboring TP53 mutation. The copy-neutral loss of heterozygosity might have imbalanced the 1p/19q codeletion, while temozolomide therapy possibly caused the TP53 mutation. Such phenomena, although rare, should be noted during the clinical treatment of oligodendrogliomas.

[Intracranial Growing Teratoma Syndrome:Case Reports and Literature Review].

BACKGROUND: Growing teratoma syndrome(GTS)is the progression of a mature teratoma during or following radiochemotherapy for germ cell tumors. We report two surgical cases of GTS. CASE 1: A 24-day-old new-born presented with vomiting and head enlargement. Blood alfa-feto protein(AFP)and beta-human chorionic gonadotropin(ß-hCG)were within or at the upper limits of the normal ranges. Magnetic Resonance Imaging(MRI)demonstrated a large mass in the posterior fossa causing the severe hydrocephalus. Tumor removal was immediately performed. Histological diagnosis given was immature teratoma. While chemotherapy effectively reduced the level of tumor makers, multiple recurrence was noticed on MRI 70 days after the surgery. GTS was suspected and total removal was performed. Histological examination revealed a mature teratoma. The patient is growing normally thereafter, 2.5 years after the onset. CASE 2: A 16-year-old male presented with binasal hemianopsia. Blood AFP and ß-hCG were within or at the upper limits of the normal ranges. MRI demonstrated an intrasellar mass protruding upward. Tumor removal was performed and histological diagnosis given was mixed germ cell tumor. While radiochemotherapy effectively normalized the tumor makers, recurrence was noticed on MRI 190 days after the surgery. Total removal was performed with the diagnosis of GTS. Histological examination revealed a mature teratoma. The patient lives a normal school life thereafter as followed up after a year after the onset. CONCLUSION: It is important to diagnose and perform the surgery early enough to enable total removal of the mass presenting as GTS because total surgical removal is the only treatment for GTS.

Japanese clinical practice guidelines for vascular anomalies 2017.

The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence-based medicine (EBM) techniques and aimed at improvement of the outcomes. Clinical questions (CQs) were decided based on the important clinical issues. For document retrieval, key words for literature searches were set for each CQ and literature published from 1980 to the end of September 2014 was searched in Pubmed, Cochrane Library, and Japana Centra Revuo Medicina (JCRM). The strengths of evidence and recommendations acquired by systematic reviews were determined following the Medical Information Network Distribution System (MINDS) technique. A total of 33 CQs were used to compile recommendations and the subjects included efficacy of resection, sclerotherapy/embolization, drug therapy, laser therapy, radiotherapy, and other conservative treatment, differences in appropriate treatment due to the location of lesions and among symptoms, appropriate timing of treatment and tests, and pathological diagnosis deciding the diagnosis. Thus, the Japanese Clinical Practice Guidelines for Vascular Anomalies 2017 have been prepared as the evidence-based guidelines for the management of vascular anomalies.

Japanese clinical practice guidelines for vascular anomalies 2017.

The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence-based medicine (EBM) techniques and aimed at improvement of the outcomes. Clinical questions (CQs) were decided based on the important clinical issues. For document retrieval, key words for literature searches were set for each CQ and literature published from 1980 to the end of September 2014 was searched in Pubmed, Cochrane Library, and Japana Centra Revuo Medicina (JCRM). The strengths of evidence and recommendations acquired by systematic reviews were determined following the Medical Information Network Distribution System (MINDS) technique. A total of 33 CQs were used to compile recommendations and the subjects included efficacy of resection, sclerotherapy/embolization, drug therapy, laser therapy, radiotherapy, and other conservative treatment, differences in appropriate treatment due to the location of lesions and among symptoms, appropriate timing of treatment and tests, and pathological diagnosis deciding the diagnosis. Thus, the Japanese Clinical Practice Guidelines for Vascular Anomalies 2017 have been prepared as the evidence-based guidelines for the management of vascular anomalies.