A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.
Ontology highlight
ABSTRACT:
SUBMITTER: Te Paske IBAW
PROVIDER: S-EPMC8440670 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:A 2-year-old cat was presented with progressive ataxia. Despite treatment the animal died. Pathomorphological examination revealed a widespread leptomeningeal mass at all levels of the central nervous system accentuated on the cervical spinal cord and the medulla oblongata without presence of a primary intraaxial tumor. The neoplasm was mainly composed of round, uninucleate cells with hyperchromatic nuclei, which were immunopositive for OLIG2, doublecortin, MAP2, synaptophysin, and vimentin, indicating components of both oligodendroglial and neuronal differentiation. Ki-67 immunohistochemistry indicated a high proliferation activity of the neoplasm. Few GFAP positive and Iba-1 positive cells were interpreted as reactive astrocytes and macrophages or microglia, respectively. The tumor was immunonegative for CD3, CD20, PAX5, MUM1, pan-cytokeratin, S100, NSE, p75NTR, NeuN and periaxin. These findings led to the diagnosis of primary diffuse leptomeningeal oligodendrogliomatosis. This is the first reported case of this entity in a young cat, which should be considered as a differential diagnosis for diffuse subarachnoidal round cell infiltrates.
| S-EPMC8714914 | biostudies-literature
Project description:Hereditary diffuse gastric cancer (HDGC) is associated with E-cadherin 1 (CDH1) germline mutations. In the present study, two unusual HDGC cases are described. Case 1 was a female with no family history of gastric cancer who developed Hodgkin's lymphoma at 19 years of age, and DGC at 32 years of age. Due to her young age (32 years), the patient was examined for CDH1 abnormalities and a deleterious mutation was identified. Her father and younger sister were identified to be carriers of the mutation. Case 2 was a 36-year-old female diagnosed with lobular breast cancer (LBC); her mother had LBC, and her grandmother had LBC and DGC. The molecular test was wild-type for breast cancer susceptibility genes 1 and 2; however, a large deletion in CDH1 was identified. At prophylactic gastrectomy, early DGC was identified. Early onset of DGC and LBC justifies testing for CDH1. A better knowledge of tumor natural history in carrier subjects is important to aid genetic counseling, in order to assess the surveillance time required prior to carrying out prophylactic surgery.
| S-EPMC5529793 | biostudies-other
Project description:Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes.
| S-EPMC8430206 | biostudies-literature
Project description:We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA-related overgrowth spectrum (PROS). Our observation confirms that the PIK3CA gain-of-function (GoF) variant effects dominate those of the RASopathy, and the resulting blended phenotype mostly resembles megalencephaly-capillary malformation syndrome (MCAP PROS). There appears to be interaction between RIT1 and PI3K-AKT because the latter pathway is needed for the growth-promoting activity of the first, at least in adenocarcinomas, but the details of this interaction are not known. If so, the PIK3CA somatic variant may not be just a chance event. It could also be of etiological relevance that Rit activation mediates resistance to cellular stress-that is, promotes cell survival. This anti-apoptotic effect could also make it more likely that a cell that spontaneously acquires a PIK3CA GoF variant will survive and proliferate. We aim to encourage clinicians to investigate atypical findings in individuals with PROS. If further similar cases are reported, this would suggest that the establishment of PROS mosaicism is facilitated by the background of a RASopathy.
| S-EPMC8751416 | biostudies-literature
Project description:IntroductionGastric cancer (GC) is the fifth most common cancer and the fourth leading cause of death. It is much more common in advanced age and it is rare among the youngest patients (under 45 years of age).Case presentationwe report an unusual presentation of advanced gastric adenocarcinoma in 39-year-old man, who presented to our hospital with inguinal hernia without obvious gastrointestinal symptoms. He had strong family history of cancer, heavy smoking habit and weight loss. The intra-operative procedure identified a cyanotic separate spermatocele which was confirmed by the urologist. During investigation we found multiple liver metastasis in abdominal CT and advanced gastric adenocarcinoma from gastric biopsy and metastasis in spermatic cord sample and peritoneum sample of poorly differentiated adenocarcinoma.ConclusionAlthough stomach adenocarcinoma is extremely rare in young patient but it should be kept in mind of physicians as a possible diagnosis if there are many risk factors.
| S-EPMC9289344 | biostudies-literature
Project description:Tracheobronchomalacia (TBM) is characterized by weakness of cartilaginous supporting structures of tracheal and bronchial walls, resulting in central airway obstruction. It is a rare condition that can occur after prolonged intubation. Here, we report a 26-year-old, alcoholic male who had TBM, mild subglottic, and severe tracheal stenosis following 2 weeks of intubation. Subglottic and tracheal stenosis can occur after extubation but TBM is uncommon. The exact mechanism is still unknown but post-intubation TBM is a life-threatening condition with high morbidity and mortality if left untreated. Early detection and timely management can improve the outcome of patients.
| S-EPMC5805845 | biostudies-other
Project description:Primary amoebic meningoencephalitis (PAM) is a fulminant disease of the brain caused by Naegleria fowleri. Although the disease is rare, the case fatality rate is very high. In this report, we describe the first case of PAM in Zambia.The patient presented with sudden onset of seizures and fever on admission. On physical examination he was febrile, comatose and with a stiff neck. Cerebral spinal fluid (CSF) collected on admission did not reveal any organism on microscopy or culture but showed elevated white cell count. A working diagnosis of severe septicemia with acute meningoencephalitis was then made and the patient was started on IV Cephtriaxone (2 g) twice daily. Despite receiving treatment, his condition deteriorated. A second CSF sample collected on day 3 was also negative for bacteria and other organisms. However, a repeat CSF sample collected on day 8 revealed numerous motile organisms that were identified as Naegleria on microscopy and confirmed to be N. fowleri on polymerase chain reaction. The patient died on day 8 of hospital admission after having received one dose of Amphotericin B (50 mg). Features consistent with PAM were detected on autopsy.The isolation of N. fowleri in this patient calls for increased awareness among clinical and laboratory staff on suspected PAM cases to promptly diagnose and effectively manage the disease.
| S-EPMC5540533 | biostudies-other
Project description:BackgroundGastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex (SDHx) deficient disorders and neurofibromatosis type 1 the more related inherited conditions. Wild type (WT) KIT and PDGFRα GISTs constitute a clue for a hypothetical underlying germline condition.Case presentationWe present a case of a 20 years old female diagnosed of a gastric WT GIST who developed hepatic metastases during her clinical course. No significant or typical phenotypic features suggestive of a specific syndrome were detected by physical examination. Also, her family history seemed to be irrelevant, since no other cases of GISTs, paragangliomas or pheochromocytomas were reported. Her paternal grandfather died as a consequence of a pituitary adenoma. In light of the age of tumor presentation and somatic features of gastric GIST, we performed genetic testing of SDHx genes. Analysis obtained from peripheral blood sample revealed the presence, in heterozygous state, of the c.1A > C; p.(Met1?) pathogenic variant in the SDHA.ConclusionsTo the best of our knowledge, this is the first published report in which the c.1A > C; p.(Met1?) pathogenic variant in the SDHA is associated with a GIST. SDHA pathogenic variants increase the risk of paraganglioma, pheochromocytoma, GIST, pituitary adenoma and renal cancer in an autosomal dominant inherited condition named paraganglioma syndrome type 5. The absence of family history of tumors in SDHA pathogenic variants carriers could be related to its low penetrance. All patients diagnosed with WT GISTs should be referred to a hereditary cancer genetic counseling unit regardless of the age at presentation or the absence of a suspicious family history.
| S-EPMC6688230 | biostudies-literature
Project description:The most common metastatic sites of gastric cancer include the liver, peritoneum, lung, and bone. However, there is a lack of relevant clinical reports regarding rectal metastasis. Herein, we report the rare case of a patient with gastric cancer who developed rectal metastasis. A 57-year-old male patient was diagnosed with gastric cancer and underwent a radical gastrectomy in January 2016, followed by eight cycles of adjuvant chemotherapy. The patient subsequently developed a rectal mass in March 2021. He was diagnosed with rectal adenocarcinoma and underwent surgical resection of the rectal tumor. A mass was then found in the abdominal wall in September 2021 and was resected. Specimens obtained from the three surgeries were reviewed, and the rectal tumor and the mass in the abdominal wall were both found to be metastatic tumors from the gastric cancer. Metastasis of gastric cancer to the rectum is rare, but it is important to differentiate between rectal metastasis and primary rectal cancer to help avoid unnecessary treatment.
| S-EPMC10566277 | biostudies-literature
Project description:BackgroundInherited genetic factors such as E-cadherin (CDH1) promoter variants are believed to influence the risk towards sporadic diffuse gastric cancer (DGC). Recently, a new regulatory region essential for CDH1 transcription has been identified in CDH1 intron 2.MethodsWe genotyped all known polymorphisms located within conserved sequences of CDH1 intron 2 (rs10673765, rs9932686, rs1125557, rs9282650, rs9931853) in an Italian population consisting of 134 DGC cases and 100 healthy controls (55 patient relatives and 45 unrelated, matched individuals). The influence of individual variants on DGC risk was assessed using chi2-tests and logistic regression. The relative contribution of alleles was estimated by haplotype analysis.ResultsWe observed a significant (p < 0.0004) association of the CDH1 163+37235G>A variant (rs1125557) with DGC risk. Odds ratios were 4.55 (95%CI = 2.09-9.93) and 1.38 (95%CI = 0.75-2.55) for AA and GA carriers, respectively. When adjusted for age, sex, smoking status, alcohol intake and H. pylori infection, the risk estimates remained largely significant for AA carriers. Haplotype analysis suggested the 163+37235A-allele contributes to disease risk independently of the other variants studied.ConclusionThe CDH1 163+37235G>A polymorphism may represent a novel susceptibility variant for sporadic DGC if confirmed in other populations. Considering the broad expression of E-cadherin in epithelia, this exploratory study encourages further evaluation of the 163+37235A-allele as a susceptibility variant in other carcinomas.
| S-EPMC2412889 | biostudies-literature