A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.
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ABSTRACT:
SUBMITTER: Kido J
PROVIDER: S-EPMC8651689 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors. We highlight the complexities in diagnosis of these disorders and review genetic defects of the NF-κB pathway.
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Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
2020-06-04 | GSE151766 | GEO
Project description:Introduction and importanceThe atypical urethral mucosal outpouching into adjacent tissue is termed urethral diverticulum (UD). Most patients present with a post-void dribble, dyspareunia, and dysuria.Case presentationWe reported a 60 years old woman who presented with recurrent urethral discharge, and a palpable lump in the vagina. Cystoscopy showed the location of the diverticular ostium.Clinical discussionUrethral diverticulum (UD) is uncommon and requires a relatively high level of suspicion, particularly in women with symptoms of atypical voiding. The widely-known classic symptoms involve the 'three Ds': post-void dribbling, dyspareunia, and dysuria. For radiological modalities, the transvaginal and transperineal ultrasound (US), Voiding cystourethrogram (VCUG), and cystoscopic examinations should be conducted to establish the diagnosis.ConclusionUrethral Diverticulum (UD) should always be considered in cases of urethral discharge and intravaginal mass. A complete history, complete clinical, VCUG, and cystoscopic examinations should be conducted to establish the diagnosis. The technique of three-layer vaginal flap is related to a very good success rate without major complications.
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Project description:BackgroundLiposarcoma (LPS) is the second most common type of soft tissue sarcoma, accounting for approximately 15-20% of all the sarcomas. Primary intrathoracic LPS, however, is quite rare. LPS is a malignant mesenchymal tumor, comprised of lipogenic tissue with varying degrees of atypia. It can be subclassified into well-differentiated LPS (WDLPS), myxoid LPS (MLPS)/round cell LPS, pleomorphic LPS (PLPs), and dedifferentiated LPS (DDLPS), based on the histology.Case presentationA 76-year-old male patient initially presented to the emergency room with a complaint of precordial chest pain for one month. Computed tomography (CT) of his chest showed a large, 8 cm × 8 cm x 10 cm, supradiaphragmatic, complex solid mass in the lower left hemithorax, along the anterior chest wall. Chest wall mass excision revealed dedifferentiated LPS, with excision of margins. Positron emission tomography (PET) scan did not show metastatic disease. Seven months later, he presented with shortness of breath, and CT of the chest showed large, left pleural-based masses, causing compression of surrounding structures. He was not a candidate for surgical resection. This patient subsequently failed chemotherapy and opted for hospice.ConclusionIntrathoracic LPS is a rare tumor. Recurrence is higher with dedifferentiated histology forms. Radical surgery with excision of margins is the primary recommended treatment.
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Project description:Background: Multiple primary malignancies (MPMs) refer to two or more primary malignant tumors in the same individual, the prevalence of which ranges from 0. 734 to 11.7%. The risk factors for MPMs vary and include both genetic and environmental causes. FANCA gene mutation might be a predisposition to the development of a second primary cancer. Here, we report a case in which a patient with a FANCA mutation developed thyroid papillary carcinoma and gastric adenocarcinoma. Case Presentation: A 48-year-old woman was diagnosed with thyroid cancer underwent resection in 2006. In 2008, the patient developed gastric adenocarcinoma and underwent radical gastrectomy. Gastric cancer was completely remitted after radiochemotherapy, but metastasis developed, and she received immunotherapy. The patient died on October 27, 2019. Peripheral blood gene detection showed germline FANCA mutation. Conclusions: Gene detection is of great importance in cancer patients, especially in those with MPMs. FANCA mutation is a predisposition to tumorigenesis that can increase the risk of developing MPMs. Patients with heterozygous FANCA gene mutations have poorer outcomes.
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Project description:Background. We describe the unusual case of a recently transplanted cadaveric renal transplant recipient who presented with recurrent pulmonary mucormycosis. Case Report. An 18-year-old man with end stage renal disease secondary to congenital renal agenesis status after cadaveric kidney transplant 4 months before presented with acute onset of fever, hemoptysis, and back pain. The patient underwent an emergent left lower lobectomy due to the critical nature of his illness. He was also treated with amphotericin with resolution of his symptoms. One week later, he had evidence of recurrent disease on imaging with a surgical site infection. He underwent reexploration with evacuation of an empyema and debridement of a surgical site infection. He was continued on IV antifungal therapy with isavuconazonium and amphotericin. Radiographic clearance of disease with three months of treatment was apparent with no evidence of recurrence at seven-month follow-up. Discussion. Opportunistic infections in solid organ transplant patients represent a significant source of morbidity and mortality. Most patients are treated with prophylactic anti-infective agents. However, rare infections such as pulmonary mucormycosis remain a risk. The transplant physician must be aware of these uncommon infections and their treatment strategies, including the management of uncommon recurrent disease.
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Project description:Background: Glioblastoma (GBM) is the most malignant intracranial tumor in adults. However, the overall management of GBM in pregnancy is rarely reported. How to balance the therapeutic benefits to the mother and risks to the fetus remains hugely challenging for clinicians. The application of specific targeting therapy combined with conventional treatment sheds light on a longer lifetime for the patients suffering from GBM. Case Presentation: We present a pregnant female at 20 weeks gestation diagnosed with GBM. Surgical resection was initially performed without adjuvant therapy, and the tumor recurred de novo 2 months later. A secondary craniotomy and cesarean section were performed simultaneously at 32 weeks gestation, both the patient and infant were survived. She was subsequently treated with traditional chemo-radiotherapy. No other identified genetic alterations indicating an optimistic prognosis were detected except for BRAF V600E mutation. Thus, the BRAF inhibitor was placed on her with achieving a good clinical outcome of more than 2-year survival without recurrence. Conclusion: Personalized multidisciplinary therapy should be considered when GBMs occur in pregnancy. Response to the therapy in this presenting case suggests that BRAF V600E mutation is a favorable biomarker for GBM. The mortality of GBM might be reduced through genetic testing and targeted treatment. However, more studies must be conducted to confirm our observation.
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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:In this report, the case of a 24-year-old female with Beckwith-Wiedemann Syndrome (BWS) who was diagnosed with well-differentiated hepatocellular carcinoma (HCC) is described. While BWS has been associated with childhood embryonal tumors, most commonly Wilms tumors and hepatoblastomas, this is the first case report to describe HCC in an adult with BWS. Although HCC typically occurs in elderly adults or those with underlying liver disease, in this case, we show that HCC can occur in a young adult with BWS without any underlying liver disease.
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Project description:BackgroundEven though remarkable progress for diagnostics of pulmonary TB has been made, it is still a challenge to establish a definitive diagnosis for extrapulmonary TB (EPTB) in clinical practice. Among all the presentations of EPTB, cold abscesses are unusual and deceptive, which are often reported in the chest wall and spine. Subcutaneous abscess in the connective tissue of limbs is extremely rare.Case presentationA 48-year-old man with dermatomyositis was hospitalized because of multiple subcutaneous tuberculous abscesses in his limbs, but without pulmonary tuberculosis. Particularly, one insidious abscess appeared during anti-TB treatment due to "paradoxical reaction". After routine anti-TB therapy, local puncture drainage and surgical resection, the patient was cured and discharged.ConclusionsTuberculous infection should be kept in mind for the subcutaneous abscess of immunocompromised patients, even without previous TB history. Treatment strategy depends on the suppurating progress of abscess lesions. Meanwhile, complication of newly-developed insidious abscess during treatment should be vigilant.
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