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2.
SAGE Open Med Case Rep ; 12: 2050313X241229853, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38333518

RESUMO

Paraganglioma is derived from the paraganglia tissue in the neck, along the sympathetic trunk, and in the pelvis. Paraganglioma has malignant potential and can metastasize to remote organs such as the liver, lungs, and bones. Most metachronous metastases occur within several years after the initial diagnosis of paraganglioma. Here, we report the case of a 71-year-old male patient who developed bony metastasis 52 years after the resection of a large paraganglioma at the aortic bifurcation. The biopsy-proven paraganglioma metastasis to the lesser trochanter of left femur presented as an avulsion fracture. His normetanephrine level was elevated. DOTATATE PET (positron emission tomography) did not find any other metastatic lesions. The bony metastasis was treated with radiation therapy. We believe that the patient had one of the longest gaps ever reported, 52 years, between the initial diagnosis and metastasis of paraganglioma. This case highlights the importance of long-term surveillance of patients with paraganglioma for metastasis.

3.
Cancer Lett ; 585: 216665, 2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38290657

RESUMO

Glioblastoma (GBM) is an extremely aggressive tumor associated with a poor prognosis that impacts the central nervous system. Increasing evidence suggests an inherent association between glucose metabolism dysregulation and the aggression of GBM. Polo-like kinase 4 (PLK4), a highly conserved serine/threonine protein kinase, was found to relate to glioma progression and unfavorable prognosis. As revealed by the integration of proteomics and phosphoproteomics, PLK4 was found to be involved in governing metabolic processes and the PI3K/AKT/mTOR pathway. For the first time, this study supports evidence demonstrating that PLK4 activated PI3K/AKT/mTOR signaling through direct binding to AKT1 and subsequent phosphorylating AKT1 at S124, T308, and S473 to promote tumorigenesis and glucose metabolism in glioma. In addition, PLK4-mediated phosphorylation of AKT1 S124 significantly augmented the phosphorylation of AKT1 S473. Therefore, PLK4 exerted an influence on glucose metabolism by stimulating PI3K/AKT/mTOR signaling. Additionally, the expression of PLK4 protein exhibited a positive correlation with AKT1 phosphorylation in glioma patient tissues. These findings highlight the pivotal role of PLK4-mediated phosphorylation of AKT1 in glioma tumorigenesis and dysregulation of glucose metabolism.


Assuntos
Glioblastoma , Glioma , Naftalenos , Piperazinas , Humanos , Proteínas Proto-Oncogênicas c-akt/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Serina-Treonina Quinases TOR/metabolismo , Glioma/genética , Glioma/patologia , Fosforilação , Glioblastoma/patologia , Carcinogênese , Transformação Celular Neoplásica , Glucose , Proteínas Serina-Treonina Quinases/metabolismo
4.
AACE Clin Case Rep ; 9(6): 197-200, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38045795

RESUMO

Background/Objective: Clinical diagnosis of rare aggressive sellar malignancies requires a high index of suspicion. The objective was to report 2 patients with primary sellar atypical teratoid (AT)/rhabdoid tumor (RT) who presented with acute-onset headache and visual symptoms. Case Report: Patient 1 was a 45-year-old woman who presented with 3 weeks of headache and 1 week of eye pain and diplopia. Magnetic resonance imaging (MRI) identified a 2.2-cm sellar mass. Pituitary hormone testing showed elevated prolactin and suppressed luteinizing hormone, follicle-stimulating hormone, and estradiol levels. Patient 2 was a 32-year-old woman who presented with 1 month of headache and 1 week of diplopia. MRI showed a 2.1-cm sellar mass. Hormonal test results were reportedly unremarkable. Both patients did not have a significant medical history. They each underwent transsphenoidal resection. Surgical histology and molecular studies were consistent with primary sellar AT/RT. After surgery, patient 1 developed bilateral blindness and was lost to follow-up. Patient 2 developed hypopituitarism; her visual symptoms improved temporarily but recurred 2 weeks later. Pituitary MRI showed sellar recurrence. She underwent further debulking, but the tumor recurred promptly again. Despite radiation therapy, she died 4 months after the original presentation. Discussion: AT/RT appears to be the most aggressive sellar malignancy. Conclusion: Based on the 2 cases presented and the literature, I conclude that rapidly progressive headache with subsequent visual impairment in women with large sellar masses is almost pathognomonic of sellar AT/RT.

5.
AACE Clin Case Rep ; 9(6): 193-196, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38045797

RESUMO

Background: Documented symptomatic progression of a paraganglioma (PGL) over many years is unusual. Our objective is to report a young man with such an occurrence. Case Report: A 27-year-old male presented with headache, sweating, and palpitation. He had a history of cyanotic congenital heart disease. Five years before presentation, he had 24-hour urine metanephrines 43 mcg/d (25-222), vanillylmandelic acid 3 mg/d (<6), and homovanillic acid 2.4 mg/d (1.6-7.5) levels and a 3.13 cm mass in the upper aortocaval space. Subsequent imaging showed slow growth of the mass. On admission, his blood pressure was 197/134 mm Hg, heart rate was 163 beats per minute, respiratory rate was 25 per minute, and oxygen saturation was 76% on room air. His 24-hour urine normetanephrine level was 2644 mcg/d (81-667) while metanephrine was 405 mcg/d (55-320). Plasma free metanephrine level was 0.92 nmol/L (0-0.49) and normetanephrine was 11.85 nmol/L (0-0.89). DOTATATE positron emission tomography-computed tomography revealed a 4.3 × 3.1 × 4.9 cm mass with activity in the right upper aortocaval space. He was treated with Prazosin. Two months later, he underwent resection of the mass. Pathology diagnosed a 4.9 cm PGL. He had improvement in metanephrine levels. Discussion: PGL is diagnosed by documenting excess catecholamines and identifying a lesion on imaging. False negative laboratory testing is rare but can occur. Patients with cyanotic congenital heart disease have a greater risk of developing PGL. Conclusion: It is crucial to evaluate a patient for PGL if clinical conditions suggest catecholamine excess, especially if a retroperitoneal tumor has grown or the patient has risk factors.

6.
Heliyon ; 9(8): e19318, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37664705

RESUMO

Background: Solid pseudopapillary neoplasms (SPNs) are uncommon tumors of low malignancy with a generally favorable prognosis, mostly originating from the pancreas. To date, 12 cases of SPNs with a primary ovarian origin (SPN-Os) have been reported globally, and their detailed characteristics have not been fully elucidated. Case description: We reported the 13th SPN-O case, which occurred in a 52-year-old woman with an 18.5 cm left ovarian mass. Four imaging methods, including ultrasound, computed tomography, magnetic resonance imaging and positron emission tomography, were utilized before surgery. An elevated level of serum cancer antigen 125 was detected and a total hysterectomy plus bilateral salpingo-oophorectomy was performed. Microscopic examination revealed a typical solid pseudopapillary structure. The tumor cells were stained focally for pan-cytokeratin, synaptophysin, CD99 and CD10, while ß-catenin, vimentin and CD56 were diffusely expressed. The Ki-67 proliferation index was 3%, and immunohistochemical (IHC) staining for chromogranin-A, inhibin-a, and E-cadherin was negative. No evidence of recurrence or metastasis was observed by clinical and imaging data during a 5-month postoperative follow-up. Conclusion: This is a report of an unusual case of a primary ovarian SPN with an up-to-date review of SPN-Os. A minimum combination of imaging methods and IHC stains was proposed for SPN-Os, which may prove beneficial in clinical practice.

7.
Front Bioeng Biotechnol ; 11: 1153394, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37187886

RESUMO

Background: Acetabular metastasis is a type of metastatic bone cancer, and it mainly metastasizes from cancers such as lung cancer, breast cancer, and renal carcinoma. Acetabular metastasis often causes severe pain, pathological fractures, and hypercalcemia which may seriously affect the quality of life of acetabular metastasis patients. Due to the characteristics of acetabular metastasis, there is no most suitable treatment to address it. Therefore, our study aimed to investigate a novel treatment technique to relieve these symptoms. Methods: Our study explored a novel technique to reconstruct the stability of the acetabular structure. A surgical robot was used for accurate positioning and larger-bore cannulated screws were accurately inserted under the robot's guidance. Then, the lesion was curetted and bone cement was injected through a screw channel to further strengthen the structure and kill tumor cells. Results: A total of five acetabular metastasis patients received this novel treatment technique. The data relating to surgery were collected and analyzed. The results found that this novel technique can significantly reduce operation time, intraoperative bleeding, visual analogue score scores, Eastern Cooperative Oncology Group scores, and postoperative complications (e.g., infection, implant loosening, hip dislocation) after treatment. Follow-up time ranged from 3 months to 6 months, and the most recent follow-up results showed that all patients survived and no acetabular metastasis progressed in any of the patients after surgery. Conclusion: Surgical robot-assisted tripod percutaneous reconstruction combined with the bone cement filling technique may be a novel and suitable treatment in acetabular metastasis patients. Our study may provide new insights into the treatment of acetabular metastasis.

8.
Exp Ther Med ; 25(5): 208, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37090082

RESUMO

Osteosarcoma is a malignant tumor that predominantly occurs in children or adolescents under the age of 20 years old. Metastasis and chemotherapy resistance are two problems in the treatment of osteosarcoma, and the lack of definite biomarkers impairs the course of treatment. In recent years, non-coding RNA, as a biomarker of osteosarcoma, has become an area of research focus. The role of long non-coding RNAs (lncRNAs), such as lncRNA OIP5-AS1, and circular RNAs, such as hsa_circ_0004674, in osteosarcoma have previously been revealed, and the present study investigated their clinical significance. A total of 20 samples were collected from patients with osteosarcoma. The expression levels of lncRNA OIP5-AS1 and hsa_circ_0004674 were analyzed in tumor tissues and patient serum, and their associations with chemotherapy sensitivity, lung metastasis and prognosis were assessed. The results revealed that these two non-coding RNAs were significantly upregulated in the osteosarcoma tissues of patients compared with those in the adjacent tumor tissues. In addition, the expression levels of the two non-coding RNAs were increased in the serum of patients with osteosarcoma compared with those in patients with bone fractures (P<0.01). In patients with lung metastasis or chemotherapy resistance (tumor necrosis rate <90%), the expression levels of the two non-coding RNAs were similarly increased. By plotting the receiver operating characteristic curve, it was revealed that the combination of hsa_circ_0004674 and lncRNA OIP5-AS1 was better than ALP or either non-coding RNA alone in predicting chemotherapy sensitivity and metastasis. Kaplan-Meier survival analysis showed that, in patients with osteosarcoma, higher expression of both non-coding RNAs was associated with worse survival time (log-rank test P=0.006). In conclusion, the combination of hsa_circ_0004674 and lncRNA OIP5-AS1 may be used as a better biomarker than traditional biomarkers, such as ALP, in a clinical setting.

10.
Surgery ; 173(1): 52-58, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36207197

RESUMO

BACKGROUND: Many adrenal incidentalomas do not undergo appropriate biochemical testing and complete imaging characterization to assess for hormone hypersecretion and malignancy. With the growing availability of clinical narratives in the electronic medical record, automated surveillance using advanced data analytic techniques may represent a promising method to improve management. METHODS: A data provisioning process using a series of structured query language scripts was used to abstract all chest and abdominal computed tomography and magnetic resonance imaging reports from an academic health care system in 2018. The narratives and impressions were queried for key text relating to the identification of adrenal incidentalomas. Patients with a history of extra-adrenal malignancy undergoing staging or surveillance imaging were excluded. The prevalence and radiographic characteristics were analyzed. Patients with adrenal incidentalomas newly identified in 2018 were assessed for biochemical testing and nodule stability through August 2021. RESULTS: Of 36,618 patients queried, 8,557 were excluded owing to a history of extra-adrenal malignancy. Data from 447 patients were flagged by the structured query language scripts and electronically abstracted. On internal validation, 307/447 (69%) patients were correctly identified as having adrenal nodules (1.1% overall prevalence). The median patient age was 67 years, and 56% were female. The median nodule size was 1.7 (IQR 1.3-2.5) cm, 9% were bilateral, and 63% were low density (unenhanced Hounsfield units <10). Adrenal carcinoma was identified in 10 patients. In 2018, 121 patients were diagnosed with a new adrenal incidentaloma. Of 32 (27%) patients who had follow-up imaging at a median of 1.9 years, 97% of nodules were stable in size. Biochemical testing was performed in 53 patients (44%), of which 31 (26%) had complete hormonal assessment; 14 (26%) were functional nodules: 7 aldosterone-secreting, 4 cortisol-secreting, and 3 pheochromocytoma. CONCLUSION: Only one-fourth of patients received appropriate biochemical testing after incidental diagnosis of an adrenal nodule, and most nodules with indeterminate imaging characteristics did not undergo follow-up imaging. Advanced data analytic techniques on electronic imaging reports may aid in the clinical identification and improved management of patients with adrenal incidentalomas.


Assuntos
Neoplasias do Córtex Suprarrenal , Neoplasias das Glândulas Suprarrenais , Humanos , Feminino , Idoso , Masculino , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/epidemiologia , Registros Eletrônicos de Saúde , Achados Incidentais , Tomografia Computadorizada por Raios X
12.
Artigo em Inglês | MEDLINE | ID: mdl-36147887

RESUMO

Rhinoplasty focuses on the establishment of the structural support of nasal cartilage and the shaping of the nasal tip. The purpose of this study was to explore the application of "double tower" folding ear cartilage transplantation for nasal tip shaping in rhinoplasty.

14.
Front Endocrinol (Lausanne) ; 13: 928788, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35992139

RESUMO

Mutations in the B-Raf proto-oncogene, serine/threonine kinase (BRAF), have been linked to a variety of solid tumors such as papillary thyroid carcinoma. The purpose of this study was to compare the DP-TOF, a DNA mass spectroscopy (MS) platform, and next-generation sequencing (NGS) methods for detecting multiple-gene mutations (including BRAFV600E) in thyroid nodule fine-needle aspiration fluid. In this study, we collected samples from 93 patients who had previously undergone NGS detection and had sufficient DNA samples remaining. The MS method was used to detect multiple-gene mutations (including BRAFV600E) in DNA remaining samples. NGS detection method was used as the standard. The MS method's overall sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 95.8%, 100%, 100%, and 88%, respectively in BRAFV600E gene mutation detection. With a kappa-value of 0.92 (95%CI 0.82-0.99), the level of agreement between these methods was incredibly high. Furthermore, when compared to NGS in multiple-gene detection, the MS method demonstrated higher sensitivity and specificity, 82.9% and 100%, respectively. In addition, we collected the postoperative pathological findings of 50 patients. When the postoperative pathological findings were used as the standard, the MS method demonstrated higher sensitivity and specificity, at 80% and 80%, respectively. Our findings show that the MS method can be used as an inexpensive, accurate, and dependable initial screening method to detect genes mutations and as an adjunct to clinical diagnosis.


Assuntos
Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Biópsia por Agulha Fina/métodos , Análise Mutacional de DNA/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Espectrometria de Massas , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/genética , Nódulo da Glândula Tireoide/patologia
16.
Endocr Pract ; 28(9): 889-896, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35809774

RESUMO

OBJECTIVE: Phenoxybenzamine (nonselective, noncompetitive alpha-blocker) is the preferred drug for preoperative treatment of pheochromocytoma, but doxazosin (selective, competitive alpha-blocker) may be equally effective. We compared the efficacy of doxazosin vs phenoxybenzamine. METHODS: We conducted a prospective study of patients undergoing pheochromocytoma or paraganglioma resection by randomizing pretreatment with phenoxybenzamine or doxazosin at a single tertiary referral center. The high cost of phenoxybenzamine led to high crossover to doxazosin. Randomization was halted, and a consecutive historical cohort of phenoxybenzamine patients was included for a case-control study design. The efficacy of alpha-blockade was assessed with preinduction infusion of incremental doses of phenylephrine. The primary outcomes were mortality, cardiovascular complications, and intensive care unit admission. The secondary outcomes were hemodynamic instability index (proportion of operation outside of hemodynamic goals), adequacy of blockade by the phenylephrine titration test, and drug costs. RESULTS: Twenty-four patients were prospectively enrolled (doxazosin, n = 20; phenoxybenzamine, n = 4), and 15 historical patients treated with phenoxybenzamine were added (total phenoxybenzamine, n = 19). No major cardiovascular complications occurred in either group. The phenylephrine dose-response curves showed less blood pressure rise in the phenoxybenzamine than in the doxazosin group (linear regression coefficient = 0.008 vs 0.018, P = .01), suggesting better alpha-blockade in the phenoxybenzamine group. The median hemodynamic instability index was 14% vs 13% in the phenoxybenzamine and doxazosin groups, respectively (P = .56). The median highest daily cost of phenoxybenzamine was $442.20 compared to $5.06 for doxazosin. CONCLUSION: Phenoxybenzamine may blunt intraoperative hypertension better than doxazosin, but this difference did not translate to fewer cardiovascular complications and is offset by a considerably increased cost.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/tratamento farmacológico , Neoplasias das Glândulas Suprarrenais/cirurgia , Antagonistas Adrenérgicos alfa/uso terapêutico , Estudos de Casos e Controles , Doxazossina/farmacologia , Doxazossina/uso terapêutico , Humanos , Fenoxibenzamina/farmacologia , Fenoxibenzamina/uso terapêutico , Fenilefrina/uso terapêutico , Feocromocitoma/tratamento farmacológico , Feocromocitoma/cirurgia , Estudos Prospectivos
17.
Clin Nucl Med ; 47(3): e276-e278, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-35020659

RESUMO

ABSTRACT: Pheochromocytomatosis refers to pheochromocytoma tumorlets developed as a result of seeding of tumor cells around the surgical bed due to intraoperative tumor capsule rupture and tumor cell spillage. As pheochromocytomatosis is relatively rare, optimal management is not clear. We describe a 42-year-old man with progressive pheochromocytomatosis despite surgical debulking. He did not have a family history of pheochromocytoma or harbor mutations in pheochromocytoma-predisposing genes. The pheochromocytomatosis tumorlets exhibited uptake on DOTATATE PET. He underwent PRRT (peptide receptor radionuclide therapy), which stabilized the pheochromocytomatosis progression. This case highlights the rare phenomenon of pheochromocytomatosis and the utility of PRRT in treating it.


Assuntos
Neoplasias das Glândulas Suprarrenais , Tumores Neuroendócrinos , Compostos Organometálicos , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/radioterapia , Adulto , Radioisótopos de Gálio , Humanos , Masculino , Octreotida/uso terapêutico , Compostos Radiofarmacêuticos , Receptores de Peptídeos
18.
Pancreas ; 51(8): 1056-1060, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36607953

RESUMO

ABSTRACT: We report a father and his daughter who both had multiple somatostatinomas in the duodenal bulb without a known syndrome. The father, at age 68 years, was incidentally found to harbor 4 approximately 1.5-cm well-differentiated neuroendocrine tumors in the duodenal bulb. His preoperative somatostatin level was elevated. He underwent partial duodenectomy and regional lymph node dissection; one lymph node was positive for metastasis. One year postoperatively, a recurrence was found in the surgical bed; he was treated with octreotide for 2 years, which stabilized the recurrent tumor. Ten years postoperatively, the mucosa of his remaining duodenum was normal. His daughter, at age 53 years, was found to harbor multiple small neuroendocrine tumors in the duodenal bulb. Immunostaining of available specimens showed that the neuroendocrine tumors from the father and daughter both were strongly positive for somatostatin. Micronodules of somatostatin-expressing neuroendocrine cells were found in the parts of the specimens uninvolved with the tumors. Both patients exhibited no evidence of known syndromes associated with somatostatinoma. The daughter did not harbor mutations in 93 genes commonly found in genetic tumor syndromes. The 2 cases thus suggest a novel, autosomal dominant, genetic syndrome of familial duodenal somatostatinomatosis.


Assuntos
Neoplasias Duodenais , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Somatostatinoma , Masculino , Humanos , Idoso , Pessoa de Meia-Idade , Neoplasias Duodenais/genética , Neoplasias Duodenais/complicações , Recidiva Local de Neoplasia , Duodeno/patologia , Somatostatinoma/diagnóstico , Somatostatinoma/genética , Somatostatinoma/complicações , Tumores Neuroendócrinos/patologia , Somatostatina/uso terapêutico , Neoplasias Pancreáticas/patologia
19.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(5): 1462-1470, 2021 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-34627425

RESUMO

OBJECTIVE: To screen the serum differentially expressed proteins of APL in children. METHODS: Serum protein expression profiles from 20 cases of normal healthy controls, and 20 cases of APL patients were detected by iTRAQ (isobaric tag for relative and absolute quantification)labeling coupled with two-dimensional liquid chromatography-tandem mass spectrometry(2DLC-MS/MS), and analyzed by bioinformatics software. S100A8, LRG1 and SPARC were validated by ELISA. ROC was built by SPSS 20.0 software. RESULTS: Analysis identified 83 differentially expressed proteins in APL serum compared with control according to our defined criteria, of which 33 proteins were up-regulated and 50 proteins were down-regulated (P<0.05).IPA analysis revealed that these differentially expressed proteins were related to the function of Cellular Movement, Immune Cell Trafficking, Hematological System Development and Function, Cell-To-Cell Signaling and Interaction, Tissue Development, and involved in a variety of signalling Pathways, the most representative pathways including LXR/RXR Activation and Acute Phase Response Signaling. S100A8 and LRG1 were found to be elevated and SPARC was markedly down-regulated in serum of childhood APL when compared to the normal controls as examined by ELISA (P<0.05), which was consistent with the iTRAQ result. The overall predictive accuracy of each protein was reflected by the area under the ROC curve(AUC), S100A8,LRG1 and SPARC with ROC areas of 0.841,1.000 and 0.944 respectively. CONCLUSION: S100A8,LRG1 and SPARC may be serve as serum candidate biomarkers for pediatric APL.


Assuntos
Leucemia Promielocítica Aguda , Espectrometria de Massas em Tandem , Proteínas Sanguíneas , Criança , Cromatografia Líquida , Humanos , Proteômica
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