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:IntroductionRhabdomyolysis is a syndrome characterized by a rapid necrosis of muscle fibers and the release of muscle-derived metabolic products into the circulatory system. A rare cause of rhabdomyolysis is paraneoplastic polymyositis.Case presentationA 67-year-old man was diagnosed with paraneoplastic polymyositis and rhabdomyolysis caused by hepatocellular carcinoma (HCC). Intravenous steroid was used as a symptomatic therapy for rhabdomyolysis, and the tumour was removed by left hemihepatectomy to treat the underlying cause. After muscle strength gradually improved, steroid therapy was discontinued. The patient was reoperated multiple times due to bleeding and bile leakage. Following the operations, his overall state and muscle strength further improved. Despite that, the patient's condition worsened again, and eventually, he died of candida albicans pneumonia and sepsis.DiscussionHCC is an extremely rare cause of paraneoplastic polymyositis and rhabdomyolysis. Treatment is challenging, as none of the few available case reports record long term survival and less than half of the reports record muscle strength improvement. In our case, the patient was treated with systemic steroid therapy and resection of the tumour. The patient's muscle strength temporarily improved, but subsequently, the patient died.ConclusionOur case confirms the importance of a definitive treatment of HCC, as we achieved a significant improvement in muscle strength by removing the tumour. On the other hand, our paper highlights the dangers of double-sided steroid therapy, which, combined with the essential, effective treatment of rhabdomyolysis, may have contributed to the development of postoperative complications and candida sepsis leading to death.
| S-EPMC8063704 | biostudies-literature
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.
| S-EPMC7563044 | biostudies-literature
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-?B. 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-?B pathway.
| S-EPMC5408006 | biostudies-literature
Project description:We report a case of a 31-year-old man with metastatic fibrolamellar hepatocellular carcinoma (FLHCC) treated with gemcitabine and oxaliplatin complicated by hyperammonemic encephalopathy biochemically consistent with acquired ornithine transcarbamylase deficiency. Awareness of FLHCC-associated hyperammonemic encephalopathy and a pathophysiology-based management approach can optimize patient outcome and prevent serious complications. A discussion of the management, literature review, and proposed treatment algorithm of this rare metabolic complication are presented.Pathophysiology-guided management of cancer-associated hyperammonemic encephalopathy can improve patient outcome and prevent life-threatening complications. Community and academic oncologists should be aware of this serious metabolic complication of cancer and be familiar with its management.
| S-EPMC4828114 | biostudies-literature
Project description:RationalePMS1 is one of the mismatch repair (MMR) genes with potential crucial roles in carcinogenesis. Very few reports have been identified on germline PMS1 mutations with definite disease phenotype. Here we report a case of hepatocellular carcinoma (HCC) with a novel potential pathogenic germline PMS1 mutation.Patient concernsA 46-year-old Chinese male with Hepatitis B infection history presented a single cancerous nodule (10×12×10 mm) at the left lobe of liver. The nodule was considered malignant by type-B ultrasonic and computed tomography (CT) examinations.Diagnosis and interventionLiver lobectomy was performed to remove the liver cancerous nodule and postoperative TACE was performed for recurrence prevention. Pathological examination on resected tumor tissue confirmed the diagnosis of HCC. Whole-exome sequencing (WES) identified the c.900delT (p.D300fs) heterozygous germline mutation of PMS1, along with 253 nonsynonymous single nucleotide variations (SNVs), 14 Insertion or deletion mutations (INDELs) and 21 genes with copy number variations (CNVs). Three-dimensional prediction of protein tertiary structure suggested that the conformation of the enzyme active site and the ligand binding site might be changed due to the protein truncation.OutcomesThe patient was still alive in good condition with no sign of recurrence in 12 months follow-up period.LessonsThe affected pathways in this case were unique from previously reported HCC patients with no PMS1 germline mutations. The novel PMS1 germline mutation may increase cancer risk. The roles of PMS1 germline mutations in carcinogenesis need further investigation.
| S-EPMC7004782 | biostudies-literature
Project description:Background:Liposarcoma (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 presentation:A 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. Conclusion:Intrathoracic LPS is a rare tumor. Recurrence is higher with dedifferentiated histology forms. Radical surgery with excision of margins is the primary recommended treatment.
| S-EPMC6389794 | biostudies-literature
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: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.
| S-EPMC7420727 | biostudies-literature
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.
| S-EPMC5366780 | biostudies-other
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.
| S-EPMC7550879 | biostudies-literature