Background: MGMT (O 6 -methylguanine-DNA methyltransferase) promoter methylation is a commonly assessed prognostic marker in glioblastoma (GBM). Epigenetic silencing of the MGMT gene by promoter methylation is associated with greater overall and progression free survival with alkylating agent regimens. To date, there is marked heterogeneity in how MGMT promoter methylation is tested and which CpG sites are interrogated.
View Article and Find Full Text PDFMutations in five canonical Ras pathway genes (NF1, NRAS, KRAS, PTPN11 and CBL) are detected in nearly 90% of patients with juvenile myelomonocytic leukemia (JMML), a frequently fatal malignant neoplasm of early childhood. In this report, we describe seven patients diagnosed with SH2B3-mutated JMML, including five patients who were found to have initiating, loss-of-function mutations in the gene. SH2B3 encodes the adaptor protein LNK, a negative regulator of normal hematopoiesis upstream of the Ras pathway.
View Article and Find Full Text PDFBackground: Epigenetic inhibition of the () gene has emerged as a clinically relevant prognostic marker in glioblastoma (GBM). Methylation of the promoter has been shown to increase chemotherapy efficacy. While traditionally reported as a binary marker, recent methodological advancements have led to quantitative methods of measuring promoter methylation, providing clearer insight into its functional relationship with survival.
View Article and Find Full Text PDFUnlabelled: It is a great challenge to distinguish the parietal inflammation, centered on the foreign body that pierced the digestive tract and remained in the wall before surgery, because of its atypical clinical nature. Ingestion of foreign bodies is not uncommon. Fish bones are particularly notorious culprits; however, most will pass through the gastrointestinal tract uneventfully.
View Article and Find Full Text PDFIntroduction: Rectal cancer constitutes, by its frequency and its gravity, a real concern of the public health in the world, it represents the eighth most frequent cancer. Its incidence is increasing in young people and in particular in women, in whom it remains a rare disease known for its poor prognosis.The objective of our work is to highlight the epidemiological characteristics of rectal cancer in patients under 40 years of age, determine its incidence and outline the different therapeutic means.
View Article and Find Full Text PDFIntroduction: Schwannomas are tumors that arise from Schwann cells of the peripheral nerve sheath and rarely occur in the retroperitoneum (3% of all schwannomas). Patients are usually asymptomatic or have nonspecific symptoms, making accurate preoperative diagnosis difficult. Schwannomas are usually benign, but infrequently undergo malignant transformation.
View Article and Find Full Text PDFIntroduction And Importance: Gossypiboma or textiloma is a mass comprising of cotton matrix within the body left accidentally during a surgical procedure. The body may react to this foreign body through an exudative inflammatory reaction or an aseptic fibrotic reaction in order to encapsulate the cotton material and result into a mass.
Case Presentation: We report a case of 65-year-old female.
Introduction: Recto-vaginal fistula (RVF) is defined as a pathological epithelialized communication between the posterior wall of the vagina and the anterior wall of the rectum through the recto-vaginal septum. RVFs are rare and represent less than 5% of rectal fistulas. Occurring after childbirth or during a proctological pathology, they create a deep distress for the patients.
View Article and Find Full Text PDFAnn Med Surg (Lond)
September 2021
Introduction: and importance: Solid pseudopapillary tumor of the pancreas (SPN) or Frantz's tumor is a rare tumor of low malignant potential common in young women. The aim of this paper is to present and discuss a case of a solid pseudopapillary tumor of the pancreas occurring in a 19-year-old female.
Case Presentation: A 19-year-old girl presented to our department with epigastric pain for two months, she had no clinical findings on physical examination.
Ann Med Surg (Lond)
August 2021
Introduction: Chromophobe renal cell carcinoma, a distinct subtype of renal cell carcinoma (RCC) with characteristic light microscopic, histochemical, and ultrastructural features, typically has a favorable clinical course.
Presentation Of Case: A 45-year-old femele presented with abdominal pain. A physical examination found a palpable mass in the left upper quadrant of the abdomen.
Background: Gastric cancer (GC) is one of the leading causes of morbidity and mortality worldwide. The onset and progression of gastric cancer are attributed to numerous triggers, these triggers may be infection of the gastric epithelium by (), or by Epstein-Barr virus (EBV). Both agents can establish a lifelong persistent infection in the host, leading to chronic inflammation, which also contributes to cancer development.
View Article and Find Full Text PDFIntroduction: and importance: Retrorectal cystic hamartoma (RCH) is a rare congenital lesion of the presacral space, which is part of the vestigial cystic tumors often benign and predominantly in women. Generally asymptomatic, the appearance of symptoms such as pain or neurological disorders should raise suspicion of degeneration.
Case Presentation: We report an unusual observation of a 62-year-old patient admitted for perineal pain evolving for 2 months associated with tenesma and chronic constipation.
Introduction: Spontaneous rupture of the spleen (SPR) is a rare and severe affection, difficult to diagnose, with multiple causes such as: Infectious and hematologic affections which represent more than half of the cases. Among this subset of patients, acute myeloid leukemia is one of the causes.
Presentation Of Case: A 48-year-old man undergoing chemotherapy for acute myeloid leukemia presented with acute intense abdominal pain.
Introduction: Retroperitoneal paragangliomas are rare tumors, they arise from ganglia along the sympathetic and parasympathetic chain. We report a rare case of a non functional paraganglioma in whom surgical resection was performed.
Presentation Of Case: A 35 years-old female presented with chronic abdominal pain, A contrast magnetic resonance imaging (MRI) of abdomen showed a well-defined Left latero-aortic cystic retro-peritoneal surgical resection using laparotomy was performed, The patiente recovered well and was discharged three days after surgery.
Retrorectal tumors are a rare group of tumors that can be of benign or malignant origin, the differential diagnosis concerns all retrorectal tumors. We report a case of a huge retrorectal cystic hamartoma in which surgical excision was performed. A 58 years-old female presented with a low back pain and constipation.
View Article and Find Full Text PDFPrimary hepatic lymphoma (PHL) is a very rare malignancy and constitutes 0.016% of all cases of non-Hodgkin's lymphoma and 0.4% of extranodal non-Hodgkin's lymphoma.
View Article and Find Full Text PDFIntroduction: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract, GISTs of the stomach presenting as an intratumoral abscess are extremely rare, which necessitates emergency surgery, we report a case of a stomach GIST developing an intratumoral abscess, in whom emergency surgery was performed.
Presentation Of Case: A 68-year-old man presented with severe abdominal pain and a fever. Laboratory data showed an elevated white blood cell count and C-reactive protein level.
Mutations in the gene CBL were first identified in adults with various myeloid malignancies. Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease courses compared to other forms of Ras pathway-mutant JMML. Importantly, and in contrast to most reports in adults, the majority of CBL mutations in JMML patients are germline with acquired uniparental disomy occurring in affected marrow cells.
View Article and Find Full Text PDFBackground: Despite the intensity of hematopoietic stem cell transplantation (HCT), relapse remains the most common cause of death in juvenile myelomonocytic leukemia (JMML). In contrast to other leukemias where therapy is used to reduce leukemic burden prior to transplant, many patients with JMML proceed directly to HCT with active disease. The objective of this study was to elucidate whether pre-HCT therapy has an effect on the molecular burden of disease and how this affects outcome post-HCT.
View Article and Find Full Text PDFCoelio-surgery is the gold standard treatment for symptomatic gallbladder lithiasis. Until now, only 42 cases of laparoscopic cholecystectomy in patients with situs inversus have been published. We here report a new case of a patient followed up for complex congenital single ventricle heart disease with situs inversus and dextrocardia.
View Article and Find Full Text PDFBackgroundMaintenance of cholesterol homeostasis is crucial for brain development. Brain cholesterol relies on de novo synthesis and is cleared primarily by conversion to 24S-hydroxycholesterol (24S-HC) with brain-specific cholesterol 24-hydroxylase (CYP46A1). We aimed to investigate the impact of hypoxia-ischemia (HI) on brain cholesterol metabolism in the neonatal mice.
View Article and Find Full Text PDFInt J Adv Res (Indore)
January 2017
Background: Venous thrombosis has been described as a common complication for cancer patients. The association between clotting factor gene polymorphisms and the risk of colorectal cancer has been evidenced. The aim of the present study was to investigate the association of G20210A factor II prothrombin (FII) and factor V Leiden ( FVL) G1691A with the risk of colorectal cancer(CRC).
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