Intratumoural haemorrhage in intracranial germ cell tumours: A review of literature with an illustrative case.
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ABSTRACT:
SUBMITTER: Datta D
PROVIDER: S-EPMC10955666 | biostudies-literature | 2024 Jul
REPOSITORIES: biostudies-literature
Publications
Intratumoural haemorrhage in intracranial germ cell tumours: A review of literature with an illustrative case.
Datta Debajyoti D Ghosh Partha P Hazra Sutirtha S Das Soutrik S Pathak Debajyoti D
World neurosurgery: X 20240306
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Project description:Intracranial germ cell tumours (IGCTs) are a group of rare heterogeneous brain tumours that are clinically and histologically similar to the more common gonadal GCTs. IGCTs show great variation in their geographical and gender distribution, histological composition and treatment outcomes. The incidence of IGCTs is historically five- to eightfold greater in Japan and other East Asian countries than in Western countries, with peak incidence near the time of puberty. About half of the tumours are located in the pineal region. The male-to-female incidence ratio is approximately 3-4:1 overall, but is even higher for tumours located in the pineal region. Owing to the scarcity of tumour specimens available for research, little is currently known about this rare disease. Here we report the analysis of 62 cases by next-generation sequencing, single nucleotide polymorphism array and expression array. We find the KIT/RAS signalling pathway frequently mutated in more than 50% of IGCTs, including novel recurrent somatic mutations in KIT, its downstream mediators KRAS and NRAS, and its negative regulator CBL. Novel somatic alterations in the AKT/mTOR pathway included copy number gains of the AKT1 locus at 14q32.33 in 19% of patients, with corresponding upregulation of AKT1 expression. We identified loss-of-function mutations in BCORL1, a transcriptional co-repressor and tumour suppressor. We report significant enrichment of novel and rare germline variants in JMJD1C, which codes for a histone demethylase and is a coactivator of the androgen receptor, among Japanese IGCT patients. This study establishes a molecular foundation for understanding the biology of IGCTs and suggests potentially promising therapeutic strategies focusing on the inhibition of KIT/RAS activation and the AKT1/mTOR pathway.
| S-EPMC4532372 | biostudies-literature
Project description:Thrombotic disorders are one of the most common causes of morbidity and mortality in developing and developed countries. Several well-known genetic traits underlie predisposition to venous thrombosis. In particular, high factor VIII levels are a risk factor for venous thrombosis and coronary artery disease (CAD). However, similar insight into the genetic component of arterial thrombosis predisposition has not materialized fully, despite considerable effort. The authors present an illustrative case of a 32-year-old Saudi Arabian patient with peripheral arterial thrombosis whose only identifiable risk factor were high factor VIII levels. We also provide a comprehensive review of the current state of knowledge concerning the role of high factor VIII levels in determining the risk of arterial thrombosis or ischemic heart disease (IHD). We conclude that high factor VIII levels are a risk factor for thrombosis, with a greater impact on venous than on arterial thrombosis. However, due to a lack of international consensus on methods for the laboratory testing of factor VIII levels in plasma, we would not currently recommend the measurement of factor VIII levels as part of routine thrombophilia screening.
| S-EPMC6868576 | biostudies-literature
Project description:Testicular germ cell tumors (GCT) are the commonest solid tumors in young men. Typical presentation is with painless scrotal swelling; however, symptoms related to complications or metastasis may be the initial presentation. Gastrointestinal (GI) metastasis is seen in about 5% of patients with germ cell tumors and presentation is commonly with GI bleed. It is important to have GCT as a differential diagnosis of GI bleed in young men presenting with unexplained anemia as direct questioning about scrotal swelling and genital examination when appropriate will guide further investigation and facilitate prompt diagnosis. We present a case of a 26-year-old man with testicular germ cell tumor and severe anemia secondary to extension and perforation of duodenum by retroperitoneal metastasis and a review of the literature on the gastrointestinal manifestations of testicular germ cell tumors.
| S-EPMC5654329 | biostudies-literature
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Dural arteriovenous fistulae (DAVFs) are a rare cause of intracranial haemorrhage. We aimed to investigate outcome of patients with intracranial haemorrhage from a DAVF. We performed a systematic literature search for studies reporting outcome after intracranial haemorrhage caused by a DAVF. We used predefined selection criteria and assessed the quality of the studies. In addition, we studied outcome in all patients with DAVF who had presented with intracranial haemorrhage at two university centers in the Netherlands, between January 2007 and April 2012. We calculated case fatality and proportions of patients with poor outcome (defined as modified Rankin Scale ≥ 3 or Glasgow Outcome Scale ≤ 3) during follow-up. We investigated mean age, sex, mid-year of study and percentage of patients with parenchymal haemorrhage as determinants of case fatality and poor outcome. The literature search yielded 16 studies, all but two retrospective and all hospital-based. Combined with our cohort of 29 patients the total number of patients with DAVF-related intracranial haemorrhage was 326 (58% intracerebral haemorrhage). At a median follow-up of 12 months case fatality was 4.7% (95% CI 2.5-7.5; 17 cohorts) and the proportion of patients with poor outcome 8.3% (95% CI 3.1-15.7; nine cohorts). We found no effect of mean age, sex, mid-year of the cohorts and percentage of patients with parenchymal haemorrhage on either outcome. Hospital based case-series suggest a relatively low risk of death and poor outcome in patients with intracranial haemorrhage due to rupture of a DAVF. These risks may be underestimated because of bias.
| S-EPMC4655013 | biostudies-literature
Project description:Schwannomas are benign tumours that originate from the myelin sheath of peripheral nerves. They are characterised by a slow growth tendency. Benign schwannomas represent 35% of the head and neck district tumours. Hypoglossal schwannomas account for 5% of non-vestibular schwannomas, and malignant schwannomas occur very rarely. In the present case report, the case of a 49-year-old man who presented with paraesthesias in the left parotid and submandibular region, associated with sensation of foreign bodies and dysphagia for solids, is described. A clinical examination revealed the presence of an ovoid palpable mass in the lateral-cervical region of the neck. The patient subsequently underwent excisional surgery, and neuropathological evaluation of the specimen confirmed the diagnosis of benign schwannoma with Antoni areas A and B. Despite the rarity of schwannomas, this condition should be considered in differential diagnoses for masses localised in the neck, as in cases where they reach considerable sizes (>3 cm in diameter). Surgery therefore represents the first-choice treatment.
| S-EPMC5532696 | biostudies-other
Project description:BackgroundMast cell leukemia (MCL) is a highly life-threatening and extremely rare subtype of systemic mastocytosis (SM). MCL often genetically contains one or more somatic mutations, particularly activating mutations of KIT. This study reported on an acute MCL patient who had a rare phenotype and genetic mutants with a history of primary malignant mediastinal germ cell tumor (GCT).Case presentationA 30-year-old Asian male patient who underwent two rounds of surgery and chemotherapy with a history of primary mediastinal GCT (PM-GCTs) was admitted to our hospital due to persistent chest pain and severe fatigue. The diagnosis of acute MCL was confirmed via morphology analysis and chemical staining of marrow aspirate, as well as via marrow biopsy, with the addition of C-findings that included splenomegaly and cytopenia. The atypical MCs were phenotypically positive for CD117 and CD9 but weakly positive for CD2 and negative for CD25. Next-generation sequencing of the marrow aspirate identified heterozygous mutations in TP53 P301Qfs*44, FLT3 R973X, SETBP1 N272D, and JAK3 I688F, whereas mutations in KIT were not found. Although the initial therapy of corticosteroids, ruxolitinib, and dasatinib-based regimens was effective, he died of acute respiratory distress syndrome after the first cycle of chemotherapy with cladribine and cytarabine. The patient's survival time was 2.4 months after the initial presentation of MCL.ConclusionIn this case, MCL preceded by PM-GCTs had similar clinical symptoms and morphological manifestations but distinctly different genetic profiles than primary MCL. The characteristic morphology of MCL provides the most pivotal evidence that led our diagnosis in the correct direction. A competing hypothesis is that there is a common embryonal cancer stem cell between PM-GCTs and secondary MCL, and the latter is gradually developed in the context of additional "driver mutations".
| S-EPMC9148177 | biostudies-literature
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:ContextThe aim of this review is to describe the proportion of testicular germ cell tumours (tGCTs) with recurrence, and the timing and anatomical sites of relapse across different disease stages and after different treatment options. We summarise published follow-up protocols and discuss current and future developments to personalise follow-up for patients with tGCT.Evidence acquisitionA systematic literature search was conducted and current guidelines and selected institutional follow-up protocols were reviewed.Evidence synthesisOf 302 publications, we screened 68 full texts and included 29 studies; 22 of these were retrospective and seven were prospective in nature, contributing data for 20 570 patients. The number of patients included per study ranged from 119 to 2483. We compared the guideline follow-up protocols of the European Society for Medical Oncology, European Association of Urology, National Comprehensive Cancer Network, and American Urological Association, as well as institutional follow-up protocols. The protocols differed in terms of the number, time points, and type of follow-up investigations.ConclusionsFuture research should assess how tGCT can be followed to ensure high adherence, define the role of miR-371a-3p microRNA during follow-up, and develop follow-up protocols after curative treatment in the metastatic setting.Patient summaryIn this review of follow-up protocols for men with testis cancer, we observed different recommendations and discuss future research areas to improve follow-up for these patients.
| S-EPMC9465095 | biostudies-literature
Project description:BackgroundRadical cystectomy is typically recommended for managing bladder cancer, with ileal conduit diversion being a prevalent form of urinary diversion. Stomal variceal haemorrhage is a rare complication of ileal bladder diversion and poses diagnostic and therapeutic challenges that can escalate to life-threatening circumstances. Hepatic cirrhosis and cancer liver metastasis-induced portal hypertension are considered the main causes of stomal varices. However, the real-world expertise in the pathophysiology of, diagnostic approach to, and overall management strategy for stomal variceal haemorrhage in ileal conduit diversion is limited.Case presentationHerein, we present a rare case of a 77-year-old man with bladder cancer who developed stomal variceal haemorrhage after undergoing radical cystectomy and ileal conduit urinary diversion. Imaging revealed that the peristomal varices communicated with the subcutaneous veins of the abdominal wall without apparent portal hypertension. Transhepatic coil embolization of bleeding stomal varices was successfully performed via a transhepatic antegrade approach. No complications or stomal variceal haemorrhage occurred during a 6-month follow-up period.ConclusionTranshepatic coil embolization may be considered an initial therapeutic option for patients who experience stomal variceal haemorrhage. Comprehensive management of underlying liver disease and portal hypertension is needed at follow-up visits. We describe successful experience with the precise treatment of this rare and atypical disease, conduct a thorough review of the pertinent literature, and deliberate on optimized diagnostic and therapeutic procedures.
| S-EPMC11540816 | biostudies-literature