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1.
J Gastroenterol Hepatol ; 39(8): 1606-1612, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38676457

RESUMO

BACKGROUND AND AIM: Image enhancement endoscopy techniques, such as linked color imaging (LCI) and autofluorescence imaging (AFI), have shown promise in diagnosing mucosal inflammation in ulcerative colitis (UC). However, no studies have directly compared the diagnostic efficacy of LCI and AFI. This prospective observational study aimed to compare their diagnostic accuracy for histological healing in UC. METHODS: This study included 81 UC patients, resulting in a total of 204 endoscopic images captured using LCI and AFI, respectively. Spearman's rank correlation coefficients assessed the correlation between LCI and AFI coloration and Geboes histopathology score (GHS). Six endoscopists, who were blinded to clinicopathological features, evaluated these images, and subsequently, the diagnostic accuracy was evaluated. RESULTS: Spearman's rank correlation coefficients between LCI index, AFI index (reverse gamma value), and GHS were 0.324 and -0.428, respectively (P < 0.001), indicating a significant correlation between LCI and AFI coloration and histological healing. In LCI and AFI classifications, mean values for diagnostic accuracy, sensitivity, specificity, positive predictive value, and negative predictive value were 76.3 ± 2.2 versus 77.8 ± 2.7, 91.8 ± 4.0 versus 83.2 ± 7.6, 53.4 ± 10.0 versus 70.0 ± 5.3, 74.0 ± 3.5 versus 80.0 ± 1.6, and 82.9 ± 5.2 versus 75.5 ± 7.5, respectively. No significant difference in diagnostic accuracy existed between LCI and AFI classifications. However, LCI displayed higher sensitivity than AFI while AFI showed higher specificity compared with LCI (P < 0.05). CONCLUSIONS: LCI and AFI offer comparable diagnostic accuracy for histological healing. Clinically, it is necessary to recognize diagnostic features characterized by higher sensitivity in LCI and greater specificity in AFI.


Assuntos
Colite Ulcerativa , Imagem Óptica , Sensibilidade e Especificidade , Colite Ulcerativa/patologia , Colite Ulcerativa/diagnóstico por imagem , Colite Ulcerativa/diagnóstico , Humanos , Estudos Prospectivos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Imagem Óptica/métodos , Valor Preditivo dos Testes , Cor , Colonoscopia/métodos , Idoso , Mucosa Intestinal/patologia , Mucosa Intestinal/diagnóstico por imagem , Adulto Jovem , Aumento da Imagem/métodos
2.
No Shinkei Geka ; 52(4): 674-683, 2024 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-39034506

RESUMO

Meningiomas, renowned for their histological diversity, are one of the most prevalent brain tumors. Some meningiomas show unusual histomorphology, especially in intraoperative rapid diagnosis. Therefore, clinical and radiological information is crucial for pathological diagnosis. Before the 2021 World Health Organization Classification of Tumors of the Central Nervous System(5th edition), pathological diagnosis relied solely on histopathological features. However, this classification introduced new diagnostic criteria for anaplastic meningiomas, which now include TERT promoter mutations and the homozygous deletion of CDKN2A/B, indicating the necessity of genetic analysis. Some rhabdoid and papillary meningiomas have BAP1 alterations, which tend to demonstrate an aggressive clinical course and may represent a phenotype of BAP1-related tumor predisposition syndrome. Heterozygous deletion of CDKN2A/B and loss of H3 p.K28me3(K27me3)are also associated with poor prognosis. Although some immunohistochemical markers like MTAP may serve as surrogates for the homozygous deletion of CKKN2A/B, genetic analysis is required to confirm TERT promoter mutations. Therefore, in routine clinical practice, neurosurgeons and pathologists prioritize appropriate formalin fixation to facilitate genetic analysis using pathological specimens.


Assuntos
Neoplasias Meníngeas , Meningioma , Meningioma/genética , Meningioma/diagnóstico , Meningioma/patologia , Humanos , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/diagnóstico , Mutação
3.
Heart Surg Forum ; 26(6): E676-E679, 2023 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-38178356

RESUMO

Cases that are inoperable owing to poor preoperative conditions are sometimes encountered. However, there are some cases that are led to radical treatment by performing bridge therapy. Here, we presented a case of a patient with complex cardiac disease in an inoperable state who underwent bridging therapy that led to successful surgical treatment. A 73-year-old male who received hemodialysis treatment and had severe aortic valve stenosis and coronary artery disease planned surgical treatment. However, he was deemed inoperable owing to his low cardiac function and hemodynamic instability. Therefore, to escape from a fatal condition, we first performed balloon aortic valvuloplasty and percutaneous coronary intervention as palliative procedures. Subsequently, his cardiac function and hemodynamic stability remarkably improved; therefore, after 1 month, we performed a successful radical surgical treatment. Even in inoperable patients, bridging therapy leading to radical treatment is possible.


Assuntos
Estenose da Valva Aórtica , Procedimentos Cirúrgicos Cardíacos , Masculino , Humanos , Idoso , Função Ventricular Esquerda , Estenose da Valva Aórtica/complicações , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Terapia Ponte , Resultado do Tratamento
4.
Br J Neurosurg ; 37(3): 413-415, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32935615

RESUMO

BACKGROUND: Rosai-Dorfman disease (RDD) involving the central nervous system (CNS) is rare and observed in 5% of all patients with extranodal RDD. According to a previous report, gross total resection is curative; however, we encountered a case of recurrence following gross total resection. We discuss our case and review previous reports on recurrent RDD. CASE DESCRIPTION: A 68-year-old woman came to the hospital complaining of left parietal mass. A tumor that had partially eroded the frontal bone was found. As the lesion was suspected to be malignant, we performed a total resection. Pathology results were indicative of an RDD. We did not prescribe adjuvant therapy because total resection was performed. However, after a year, abnormal accumulation in the left parietal bone was observed on FDG-PET. This was considered as recurrence, and re-excision was performed. Pathological assessments confirmed the recurrence of RDD. CONCLUSIONS: Our case demonstrated the recurrence of RDD following total resection. Future reports should assess these peculiarities. This will facilitate discussions on the risk factors and the effectiveness of treatment methods.


Assuntos
Histiocitose Sinusal , Feminino , Humanos , Idoso , Histiocitose Sinusal/patologia , Tomografia por Emissão de Pósitrons
5.
Rinsho Ketsueki ; 64(4): 265-270, 2023.
Artigo em Japonês | MEDLINE | ID: mdl-37121770

RESUMO

A 53-year-old man was presented with fever, eyelid edema, and thrombocytopenia. Based on examination outcomes, he was diagnosed with immune thrombocytopenia. He was prescribed prednisolone (PSL) at 0.5 mg/kg/day; subsequently, his platelet count improved and fever improved. PSL dose was tapered and stopped without relapse. However, 1 month later, the patient presented to our hospital with fever, generalized edema, thrombocytopenia, and acute renal failure. Computed tomography revealed multiple lymphadenopathies, hepatomegaly, pleural effusion, and ascites. Bone marrow biopsy indicated reticulin fibrosis, and lymph node biopsy revealed mixed-type Castleman disease. Based on these findings, he was diagnosed with grade 5 TAFRO syndrome (very severe). Steroid pulse therapy and tocilizumab were ineffective in improving his condition. Therefore, rituximab was administered instead of tocilizumab, and his condition eventually improved. The optimal treatment for TAFRO syndrome is yet to be established. If tocilizumab is ineffective as the second-line treatment, then rituximab might be effective.


Assuntos
Hiperplasia do Linfonodo Gigante , Trombocitopenia , Masculino , Humanos , Pessoa de Meia-Idade , Hiperplasia do Linfonodo Gigante/tratamento farmacológico , Glucocorticoides/uso terapêutico , Rituximab/uso terapêutico , Edema/diagnóstico , Edema/tratamento farmacológico , Trombocitopenia/diagnóstico
6.
Kyobu Geka ; 76(4): 324-327, 2023 Apr.
Artigo em Japonês | MEDLINE | ID: mdl-36997182

RESUMO

Multiple endocrine neoplasia (MEN) type 1 is a hereditary syndrome characterized by hyperplasia and adenoma of the parathyroid gland, pancreatic tumor, and pituitary tumor. We report a rare case of thymic neuroendocrine tumor diagnosed after removal of a thymic tumor following pancreatic and parathyroid surgery. A 35-year-old man was diagnosed with MEN type 1 by hypercalcemia and gastrinemia with a ureteral tone. Two well defined nodules in the anterior mediastinum on computed tomography (CT), and a high degree of accumulation on positron emission tomography (PET) was noted. Surgery was performed through a median sternotomy with anterior mediastinal tumor resection. Pathology showed thymic neuroendocrine tumor (NET). Immunostaining results were different from pancreatic NET and duodenal NET, and a diagnosis of primary thymic NET was made. Postoperative radiation therapy was completed as adjuvant therapy, and the patient is alive without reccurrence.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1 , Tumores Neuroendócrinos , Timoma , Neoplasias do Timo , Masculino , Humanos , Adulto , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico por imagem , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/cirurgia , Neoplasias do Timo/complicações , Neoplasias do Timo/diagnóstico por imagem , Neoplasias do Timo/cirurgia , Timoma/complicações
7.
Am J Med Genet A ; 188(6): 1863-1867, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35178855

RESUMO

The diagnosis of mosaicism is challenging in patients with neurofibromatosis type 2 (NF2) subset due to low variant allele frequency. In this study, we generated induced pluripotent stem cells (iPSCs) were generated from a patient clinically diagnosed with NF2 based on multiple schwannomas, including bilateral vestibular schwannomas and meningiomas. Genetic analysis of the patient's mononuclear cells (MNCs) from peripheral blood failed to detect NF2 alteration but successfully found p.Q65X (c.193C>T) mutation in all separate tumors with three intracranial meningiomas and one intraorbital schwannoma, and confirming mosaicism diagnosis in NF2 alteration using deep sequencing. Five different clones with patient-derived iPSCs were established from MNCs in peripheral blood, which showed sufficient expression of pluripotent markers. Genetic analysis showed that one of five generated iPSC lines from MNCs had the same p.Q65X mutation as that found in NF2. There was no significant difference in the expression of genes related to NF2 between iPSC clones with the wild-type and mutant NF2. In this case, clonal expansion of mononuclear bone marrow-derived stem cells recapitulated mosaicism's genetic alteration in NF2. Patient-derived iPSCs from mosaic NF2 would contribute to further functional research of NF2 alteration.


Assuntos
Células-Tronco Pluripotentes Induzidas , Neoplasias Meníngeas , Meningioma , Neurofibromatose 2 , Células Clonais/patologia , Genes da Neurofibromatose 2 , Humanos , Células-Tronco Pluripotentes Induzidas/patologia , Neoplasias Meníngeas/genética , Meningioma/genética , Mutação , Neurofibromatose 2/diagnóstico , Neurofibromatose 2/genética
8.
BMC Gastroenterol ; 21(1): 373, 2021 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-34641810

RESUMO

BACKGROUND: Inflammatory bowel disease (IBD) is chronic inflammation of the gastrointestinal tract, although its etiology has largely been unclear. Tumor necrosis factor inhibitors (TNF-I) are effective for the treatment. Recently, biosimilars of TNF-I, such as CT-P13, have been developed and are thought to possess equal efficacy and safety to the original TNF-I. Sarcoidosis is also a systemic granulomatous disease of unknown etiology. In steroid-resistant cases of sarcoidosis, TNF-I have been reported effective for achieving resolution. However, the progression of sarcoidosis due to the TNF-I also has been reported. We herein report a case of pulmonary sarcoidosis with a Crohn's disease (CD) patient developed after a long period administration (15 years) of TNF-I. CASE PRESENTATIONS: A 37-year-old woman with CD who had been diagnosed at 22 years old had been treated with the TNF-I (original infliximab; O-IFX and infliximab biosimilar; IFX-BS). Fifteen years after starting the TNF-I, she developed a fever and right chest pain. Chest computed tomography (CT) revealed clustered small nodules in both lungs and multiple enlarged hilar lymph nodes. Infectious diseases including tuberculosis were negative. Bronchoscopic examination was performed and the biopsy specimens were obtained. A pathological examination demonstrated noncaseating granulomatous lesions and no malignant findings. TNF-I were discontinued because of the possibility of TNF-I-related sarcoidosis. After having discontinued for four months, her symptoms and the lesions had disappeared completely. Fortunately, despite the discontinuation of TNF-I, she has maintained remission. CONCLUSIONS: To our knowledge, this is the first case in which sarcoidosis developed after switching from O-IFX to IFX-BS. To clarify the characteristics of the cases with development of sarcoidosis during administration of TNF-I, we searched PubMed and identified 106 cases. When developing an unexplained fever, asthenia, uveitis and skin lesions in patients with TNF-I treatment, sarcoidosis should be suspected. Once the diagnosis of sarcoidosis due to TNF-I was made, the discontinuation of TNF-I and administration of steroid therapy should be executed promptly. When re-starting TNF-I, another TNF-I should be used for disease control. Clinicians should be aware of the possibility of sarcoidosis in patients under anti-TNF therapy.


Assuntos
Medicamentos Biossimilares , Doença de Crohn , Sarcoidose Pulmonar , Adulto , Anticorpos Monoclonais , Medicamentos Biossimilares/efeitos adversos , Doença de Crohn/tratamento farmacológico , Feminino , Humanos , Infliximab/efeitos adversos , Sarcoidose Pulmonar/induzido quimicamente , Inibidores do Fator de Necrose Tumoral , Adulto Jovem
9.
Clin Neuropathol ; 40(4): 201-208, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33835015

RESUMO

Few cases of malignant transformation of supposedly low-grade gliomas were described in patients with neurofibromatosis type 1 (NF1). A 27-year-old man with NF1 presented with weakness of his lower extremities and was radiologically found to have a spinal intramedullary tumor primarily involving the Th11 level. The tumor histologically demonstrated features diagnosed as a low-grade astrocytoma, subtype indeterminate (WHO grade II). Immunohistochemically, GFAP was positive, and IDH1 R132H and BRAF V600E were negative. ATRX immunoreactivity was retained. Five years after the surgery, the intramedullary tumor extended to the levels from Th8 to L1 and was partially resected. It showed histologic features similar to those of the first tumor. Two years after the second surgery, the residual spinal cord tumor was found to widely involve the levels from Th5 to L3. Spinal cordectomy was subsequently undertaken and revealed anaplastic glial cells infiltrating diffusely into the spinal cord parenchyma, with prominent subarachnoid spreading and nerve root involvement. Both necrosis and microvascular proliferation were observed. This recurrent tumor was histologically indistinguishable from glioblastoma. Loss of ATRX was noted in the second and third surgical specimens. This is the first histologically proven case of malignant transformation of NF1-associated astrocytoma with ATRX loss during the course.


Assuntos
Astrocitoma/patologia , Neurofibromatose 1 , Neoplasias da Medula Espinal/patologia , Proteína Nuclear Ligada ao X/metabolismo , Adulto , Astrocitoma/metabolismo , Transformação Celular Neoplásica , Humanos , Masculino , Recidiva Local de Neoplasia/metabolismo , Recidiva Local de Neoplasia/patologia , Neoplasias da Medula Espinal/metabolismo
10.
Neuroradiology ; 60(5): 479-486, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29546484

RESUMO

PURPOSE: To explore the utility of the apparent diffusion coefficient (ADC) and tumor volume to predict histological grade and prognosis in patients with choroid plexus tumors. METHODS: ADC and tumor volumes were retrospectively evaluated in 25 patients with choroid plexus papilloma (CPP; WHO grade 1 [n = 13]), atypical CPP (aCPP; grade 2 [n = 8]), or choroid plexus carcinoma (grade 3 [n = 4]) The prognostic roles of ADC and tumor volume were assessed. RESULTS: There were significant differences in mean and minimum ADC values, and tumor volume among the WHO grades (p = 0.033, p = 0.044, and p = 0.014, respectively). Receiver-operating characteristic analysis revealed a mean cutoff ADC value ≤ 1.397 × 10-3 mm2/s for aCPP (sensitivity = 0.667, specificity = 0.923). Multiple linear regression analysis demonstrated that both mean ADC (ß = - 0.455, p = 0.005) and tumor volume (ß = 0.513, p = 0.002) were correlated with WHO grade (adjusted R2 = 0.520, p = 0.005). Kaplan-Meier curve analysis identified poorer survival in patients with WHO grade 2 and 3 tumors than in those with WHO grade 1 disease (p = 0.049 and p = 0.012, respectively). A mean ADC ≤ 1.397 × 10-3 mm2/s (p = 0.001) and tumor volume 21.05 ml (p = 0.031) predicted significantly poorer survival. CONCLUSION: Mean ADC and tumor volume were correlated with WHO grade of choroid plexus tumors. A lower ADC value and a larger tumor volume predicted a poorer prognosis.


Assuntos
Neoplasias do Plexo Corióideo/patologia , Imagem de Difusão por Ressonância Magnética , Adolescente , Adulto , Feminino , Humanos , Masculino , Gradação de Tumores , Prognóstico , Estudos Retrospectivos , Sensibilidade e Especificidade , Carga Tumoral
11.
Transpl Infect Dis ; 19(4)2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28474756

RESUMO

We herein report a patient who had disseminated toxoplasmosis after hematopoietic stem cell transplantation showing atypical clinical presentation and neuroimaging. Parkinsonism symptoms such as muscle rigidity, bradykinesia, tremor, and postural instability were initial manifestations. Magnetic resonance imaging showed diffuse symmetrical lesions of bilateral basal ganglia lacking ringed enhancement. Post-mortem analysis revealed multiple tachyzoites of Toxoplasma gondii in the basal ganglia, mid brain, cerebellum, and cardiac muscle.


Assuntos
Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Leucemia Mieloide/cirurgia , Transtornos Parkinsonianos/diagnóstico por imagem , Toxoplasma/isolamento & purificação , Toxoplasmose Cerebral/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/parasitologia , Encéfalo/patologia , Evolução Fatal , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Transtornos Parkinsonianos/etiologia , Toxoplasmose Cerebral/complicações , Toxoplasmose Cerebral/parasitologia , Toxoplasmose Cerebral/patologia
12.
Mod Pathol ; 29(7): 708-16, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27102344

RESUMO

Recent genetic analyses using next-generation sequencers have revealed numerous genetic alterations in various tumors including meningioma, which is the most common primary brain tumor. However, their use as routine laboratory examinations in clinical applications for tumor genotyping is not cost effective. To establish a clinical sequencing system for meningioma and investigate the clinical significance of genotype, we retrospectively performed targeted amplicon sequencing on 103 meningiomas and evaluated the association with clinicopathological features. We designed amplicon-sequencing panels targeting eight genes including NF2 (neurofibromin 2), TRAF7, KLF4, AKT1, and SMO. Libraries prepared with genomic DNA extracted from PAXgene-fixed paraffin-embedded tissues of 103 meningioma specimens were sequenced using the Illumina MiSeq. NF2 loss in some cases was also confirmed by interphase-fluorescent in situ hybridization. We identified NF2 loss and/or at least one mutation in NF2, TRAF7, KLF4, AKT1, and SMO in 81 out of 103 cases (79%) by targeted amplicon sequencing. On the basis of genetic status, we categorized meningiomas into three genotype groups: NF2 type, TRAKLS type harboring mutation in TRAF7, AKT1, KLF4, and/or SMO, and 'not otherwise classified' type. Genotype significantly correlated with tumor volume, tumor location, and magnetic resonance imaging findings such as adjacent bone change and heterogeneous gadolinium enhancement, as well as histopathological subtypes. In addition, multivariate analysis revealed that genotype was independently associated with risk of recurrence. In conclusion, we established a rapid clinical sequencing system that enables final confirmation of meningioma genotype within 7 days turnaround time. Our method will bring multiple benefits to neuropathologists and neurosurgeons for accurate diagnosis and appropriate postoperative management.


Assuntos
Genômica , Genótipo , Neoplasias Meníngeas/genética , Meningioma/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Fator 4 Semelhante a Kruppel , Fatores de Transcrição Kruppel-Like/genética , Masculino , Neoplasias Meníngeas/patologia , Meningioma/patologia , Pessoa de Meia-Idade , Mutação , Neurofibromina 2/genética , Proteínas Proto-Oncogênicas c-akt/genética , Receptor Smoothened/genética , Peptídeos e Proteínas Associados a Receptores de Fatores de Necrose Tumoral/genética , Adulto Jovem
13.
Eur J Nucl Med Mol Imaging ; 43(8): 1469-76, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26841941

RESUMO

PURPOSE: Tumor necrosis is one of the indicators of tumor aggressiveness. (18)F-fluoromisonidazole (FMISO) is the most widely used positron emission tomography (PET) tracer to evaluate severe hypoxia in vivo. Because severe hypoxia causes necrosis, we hypothesized that intratumoral necrosis can be detected by FMISO PET in brain tumors regardless of their histopathology. We applied FMISO PET to various types of brain tumors before tumor resection and evaluated the correlation between histopathological necrosis and FMISO uptake. METHODS: This study included 59 brain tumor patients who underwent FMISO PET/computed tomography before any treatments. According to the pathological diagnosis, the brain tumors were divided into three groups: astrocytomas (group 1), neuroepithelial tumors except for astrocytomas (group 2), and others (group 3). Two experienced neuropathologists evaluated the presence of necrosis in consensus. FMISO uptake in the tumor was evaluated visually and semi-quantitatively using the tumor-to-normal cerebellum ratio (TNR). RESULTS: In visual analyses, 26/27 cases in the FMISO-positive group presented with necrosis, whereas 28/32 cases in the FMISO-negative group did not show necrosis. Mean TNRs with and without necrosis were 3.49 ± 0.97 and 1.43 ± 0.42 (p < 0.00001) in group 1, 2.91 ± 0.83 and 1.44 ± 0.20 (p < 0.005) in group 2, and 2.63 ± 1.16 and 1.35 ± 0.23 (p < 0.05) in group 3, respectively. Using a cut-off value of TNR = 1.67, which was calculated by normal reference regions of interest, we could predict necrosis with sensitivity, specificity, and accuracy of 96.7, 93.1, and 94.9 %, respectively. CONCLUSIONS: FMISO uptake within the lesion indicated the presence of histological micro-necrosis. When we used a TNR of 1.67 as the cut-off value, intratumoral micro-necrosis was sufficiently predictable. Because the presence of necrosis implies a poor prognosis, our results suggest that FMISO PET could provide important information for treatment decisions or surgical strategies of any type of brain tumor.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Misonidazol/análogos & derivados , Tomografia por Emissão de Pósitrons , Adulto , Idoso , Idoso de 80 Anos ou mais , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Necrose
14.
Pathol Int ; 66(12): 701-705, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27714938

RESUMO

We present a rare case of giant cell-rich solitary fibrous tumor (SFT) arising at the left external auditory canal in a 31-year-old woman. The tumor was well-circumscribed and composed of spindle-shaped cells with abundant collagenous bands. Scattered multinucleate giant cells were observed, some of which lined pseudovascular spaces. Although a focal mild-hypercellular area was observed, mitoses were rare and necrosis was absent. Interstitial mast cells were scattered, especially in the hypercellular area. Immunohistochemically, CD34, vimentin, and Bcl-2 presented diffuse positivity. Moreover, both mononuclear spindle cells and multinucleate cells showed nuclear STAT6 positivity, while NAB2-STAT6 fusion gene could not be detected by reverse transcription polymerase chain reaction using formalin-fixed specimen. These findings suggest the pathological diagnosis of giant cell-rich SFT, previously known as giant cell angiofibroma, which is a rare variant of SFT with multinucleate giant cells and occurs predominantly in orbital region. Although giant cell-rich SFTs of extra-orbital sites have been reported, to our knowledge, this is the first case arising in the external auditory canal. Giant cell-rich SFT should be considered as a differential diagnosis of spindle cell lesion with multinucleate giant cells, and STAT6 immunohistochemistry should be performed to distinguish this rare tumor from other mesenchymal neoplasms.


Assuntos
Angiofibroma/diagnóstico , Meato Acústico Externo/patologia , Tumores Fibrosos Solitários/patologia , Adulto , Angiofibroma/patologia , Biomarcadores Tumorais , Feminino , Células Gigantes , Humanos , Imuno-Histoquímica , Fator de Transcrição STAT6/metabolismo , Tumores Fibrosos Solitários/diagnóstico , Tumores Fibrosos Solitários/fisiopatologia
16.
J Surg Case Rep ; 2024(5): rjae361, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38817796

RESUMO

No reports on granulocyte colony-stimulating factor-producing lung cancer associated with antiphospholipid antibody syndrome. A 73-year-old man was referred to our department to undergo surgery for lung cancer in the right upper lobe. His examination results suggested that his condition was caused by an elevated white blood cell count and an increased inflammatory response due to granulocyte colony-stimulating factor production. The presence of antiphospholipid antibody syndrome was suspected, and the decrease in coagulation factors was considered to be inhibited by the lupus anticoagulant. Perioperatively, the patient was treated with heparin and steroids, and a thoracoscopically assisted right upper lobectomy was performed. Postoperatively, histopathological examination revealed pleomorphic carcinoma, and the patient tested negative for anticardiolipin IgG antibodies. In lung cancer patients with elevated white blood cell counts, fever, and an inflammatory response, granulocyte colony-stimulating factor-producing lung cancer is an important differential diagnosis. Additionally, when coagulation abnormalities are observed preoperatively, a thorough examination is necessary to prepare for perioperative management.

17.
Diagnostics (Basel) ; 14(11)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38893641

RESUMO

The development of next-generation sequencing (NGS) has enabled the discovery of cancer-specific driver gene alternations, making precision medicine possible. However, accurate genetic testing requires a sufficient amount of tumor cells in the specimen. The evaluation of tumor content ratio (TCR) from hematoxylin and eosin (H&E)-stained images has been found to vary between pathologists, making it an important challenge to obtain an accurate TCR. In this study, three pathologists exhaustively labeled all cells in 41 regions from 41 lung cancer cases as either tumor, non-tumor or indistinguishable, thus establishing a "gold standard" TCR. We then compared the accuracy of the TCR estimated by 13 pathologists based on visual assessment and the TCR calculated by an AI model that we have developed. It is a compact and fast model that follows a fully convolutional neural network architecture and produces cell detection maps which can be efficiently post-processed to obtain tumor and non-tumor cell counts from which TCR is calculated. Its raw cell detection accuracy is 92% while its classification accuracy is 84%. The results show that the error between the gold standard TCR and the AI calculation was significantly smaller than that between the gold standard TCR and the pathologist's visual assessment (p<0.05). Additionally, the robustness of AI models across institutions is a key issue and we demonstrate that the variation in AI was smaller than that in the average of pathologists when evaluated by institution. These findings suggest that the accuracy of tumor cellularity assessments in clinical workflows is significantly improved by the introduction of robust AI models, leading to more efficient genetic testing and ultimately to better patient outcomes.

18.
Endosc Int Open ; 12(6): E723-E731, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38847014

RESUMO

Background and study aims Gastric adenocarcinoma of the fundic gland type (GA-FG) is characterized by an elevated lesion with vessel dilation exhibiting branching architecture (DVBA). However, this feature is also found in fundic gland polyps (FGPs), posing a challenge in their differentiation. In this study, we aimed to investigate the clinicopathological features of gastric elevated lesions with DVBA and assess the efficacy of the white ring sign (WRS) as a novel marker for distinguishing between FGPs and GA-FGs. Methods We analyzed 159 gastric elevated lesions without DVBA and 51 gastric elevated lesions with DVBA, further dividing the latter into 39 in the WRS-positive group and 12 in the WRS-negative group. The clinicopathological features, diagnostic accuracy, and inter-rater reliability were analyzed. Results Univariate and multivariate analyses for gastric elevated lesions with DVBA identified the histological type consistent with FGPs and GA-FGs, along with the presence of round pits in the background gastric mucosa, as independent predictors. FGPs were present in 92.3% (36/39) of the WRS-positive group and GA-FGs were observed in 50.0% (6/12) of the WRS-negative group. WRS positivity and negativity exhibited high diagnostic accuracy, with 100% sensitivity, 80.0% specificity, and 94.1% accuracy for FGPs, and 100% sensitivity, 86.7% specificity, and 88.2% accuracy for GA-FGs. Kappa values for WRS between experts and nonexperts were 0.891 and 0.841, respectively, indicating excellent agreement. Conclusions WRS positivity and negativity demonstrate high diagnostic accuracy and inter-rater reliability for FGPs and GA-FGs, respectively, suggesting that WRS is a useful novel marker for distinguishing between FGPs and GA-FGs.

19.
Medicine (Baltimore) ; 103(1): e36207, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-38181237

RESUMO

RATIONALE: Both ulcerative colitis (UC) and sarcoidosis are chronic inflammatory diseases with unknown etiologies and are rare. However, the odds ratio in UC patients has been reported to range from 1.7 to 2.1, suggesting a potential etiology between sarcoidosis and UC. Furthermore, the underlying etiologies of UC and sarcoidosis remain unidentified. Sharing the experience of a UC patient with cardiac sarcoidosis could provide valuable insights to prevent sudden death in UC patients. PATIENT CONCERNS: A 71-year-old Japanese woman was diagnosed with UC at 58-year-old and maintained remission on mesalazine treatment. She complained of just palpitation; therefore, she consulted a cardiologist. DIAGNOSES: The patient received a diagnosis of cardiac sarcoidosis with complicating ulcerative colitis based on the results of N-terminal prohormone of the brain natriuretic peptide (NT-proBNP), imaging examinations, and histology. INTERVENTION: The patient was treated with prednisolone and methotrexate. The prednisolone was then tapered, and the methotrexate dose was adjusted based on her symptoms, imaging results, and laboratory findings. OUTCOME: She no longer had any symptoms, and the abnormal FDG uptake had disappeared after 2 years. LESSON: In UC patients, periodic or additional (in case of symptomatic) electrocardiography and NT-proBNP are recommended for the early detection of cardiac sarcoidosis, a life-threatening complication.


Assuntos
Colite Ulcerativa , Miocardite , Sarcoidose , Humanos , Feminino , Idoso , Pessoa de Meia-Idade , Colite Ulcerativa/complicações , Colite Ulcerativa/tratamento farmacológico , Metotrexato/uso terapêutico , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico , Prednisolona/uso terapêutico
20.
J Surg Case Rep ; 2024(4): rjae212, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38572290

RESUMO

Nonbacterial thrombotic endocarditis (NBTE) on the aortic valve involves fibrin and platelet aggregate formation, potentially leading to embolic events. We present a case of NBTE on the aortic valve following coronary angiography (CAG) in a 54-year-old man with multiple comorbidities. Surgical thrombectomy was performed owing to acute cerebral infarcts. This case highlights the significance of considering that mechanical trauma from catheterization during CAG can trigger thrombus formation.

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