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1.
Medicina (Kaunas) ; 60(6)2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38929597

RESUMEN

Backgound and Objectives: Gastric metastasis from invasive ductal breast cancer (BC) is rare. It mainly occurs in patients with lobular BC. The occurrence of multiple metastases is typically observed several years after the primary diagnosis. Endoscopic findings of gastric metastasis of the BC were usually the linitis plastic type. Case presentation: A 72-year-old women who underwent right modified radical mastectomy (MRM) 10 month ago was referred after being diagnosed with early gastric cancer (EGC) during systemic chemotherapy. EGC type I was found at gastric fundus, and pathologic finding showed poorly differentiated adenocarcinoma. Metachronous double primary tumor EGC was considered. Management and Outcome: A laparoscopic total gastrectomy was performed, and postoperative pathology revealed submucosa invasion and two lymph node metastases. A pathologic review that focused on immunohistochemical studies of selected antibodies such as GATA binding protein 3 (GATA3), gross cystic disease fluid protein-15 (GCDFP-15), cytokeratin 7 (CK7) was performed again, comparing previous results. As a result, gastric metastasis from BC was diagnosed. After totally laparoscopic total gastrectomy, palliative first-line chemotherapy with paclitaxel/CDDP was performed. Two months after gastrectomy, she was diagnosed with para-aortic lymph node metastasis and multiple bone metastases. She expired six months after gastrectomy. Conclusions: Gastric metastasis from invasive ductal carcinoma of the breast, which is clinically manifested as EGC, is a very rare condition. If there is a history of BC, careful pathological review will be required.


Asunto(s)
Neoplasias de la Mama , Carcinoma Ductal de Mama , Gastrectomía , Neoplasias Gástricas , Humanos , Femenino , Neoplasias Gástricas/patología , Neoplasias Gástricas/diagnóstico , Anciano , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/secundario , Carcinoma Ductal de Mama/diagnóstico , Gastrectomía/métodos , Diagnóstico Diferencial , Metástasis Linfática
2.
J Cell Physiol ; 238(9): 2076-2089, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37672477

RESUMEN

Vasomotion is the oscillation of vascular tone which gives rise to flow motion of blood into an organ. As is well known, spontaneous contractile organs such as heart, GI, and genitourinary tract produce rhythmic contraction. It imposes or removes pressure on their vessels alternatively for exchange of many substances. It was first described over 150 years ago, however the physiological mechanism and pathophysiological implications are not well understood. This study aimed to elucidate underlying mechanisms and physiological function of vasomotion in human arteries. Conventional contractile force measurement, immunohistochemistry, and Western blot analysis were employed to study human left gastric artery (HLGA) and uterine arteries (HUA). RESULTS: Circular muscle of HLGA and/or HUA produced sustained tonic contraction by high K+ (50 mM) which was blocked by 2 µM nifedipine. Stepwise stretch and high K+ produced nerve-independent spontaneous contraction (vasomotion) (around 45% of tested tissues). Vasomotion was also produced by application of BayK 8644, 5-HT, prostagrandins, oxytocin. It was blocked by nifedipine (2 µM) and blockers of intracellular Ca2+ stores. Inhibitors of Ca2+ -activated Cl- channels (DIDS and/or niflumic acid) and ATP-sensitive K+ (KATP ) channels inhibited vasomotion reversibly. Metabolic inhibition by sodium cyanide (NaCN) and several neuropeptides also regulated vasomotion in KATP channel-sensitive and -insensitive manner. Finally, we identified TMEM16A Ca2+ -activated Cl- channels and subunits of KATP channels (Kir 6.1/6.2 and sulfonylurea receptor 2B [SUR2B]), and c-Kit positivity by Western blot analysis. We conclude that vasomotion is sensitive to TMEM16A Ca2+ -activated Cl- channels and metabolic changes in human gastric and uterine arteries. Vasomotion might play an important role in the regulation of microcirculation dynamics even in pacemaker-related autonomic contractile organs in humans.


Asunto(s)
Arterias , Canales Iónicos , Contracción Isométrica , Humanos , Canales Iónicos/fisiología , Nifedipino/farmacología , Arteria Uterina , Arterias/fisiología
3.
BMC Cancer ; 23(1): 843, 2023 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-37684602

RESUMEN

BACKGROUND: Non-coding microRNAs (miRNAs) play critical roles in tumor progression and hold great promise as therapeutic agents for multiple cancers. MicroRNA 29a (miR-29a) is a tumor suppressor miRNA that inhibits cancer cell growth and tumor progression in non-small cell lung cancer. Carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6), which plays an important role in lung cancer progression, has been identified as a target of miR-29a. Here, we evaluated the therapeutic efficacy of a peptide vector capable of delivering miR-29a intracellularly using the acidic tumor microenvironment in a lung adenocarcinoma xenograft mouse model. METHODS: A miRNA delivery vector was constructed by tethering the peptide nucleic acid form of miR-29a to a peptide with a low pH-induced transmembrane structure (pHLIP) to enable transport of the miRNAs across the plasma membrane. Tumor suppressive effects of pHLIP-miR29a on lung adenocarcinoma development in vivo were assessed using a BALB/c xenograft model injected with A549 cells. RESULTS: Incubation of A549 cells with pHLIP-miR-29a at an acidic pH downregulated endogenous CEACAM6 expression and reduced cell viability. Intravenous injection of the mice with pHLIP-miR-29a inhibited tumor growth by up to 18.1%. Intraperitoneal injection of cisplatin reduced tumor volume by 29.9%. Combined pHLIP-miR-29a + cisplatin treatment had an additive effect, reducing tumor volume up to 39.7%. CONCLUSIONS: Delivery of miR-29a to lung adenocarcinoma cells using a pHLIP-mediated method has therapeutic potential as a unique cancer treatment approach.


Asunto(s)
Adenocarcinoma del Pulmón , Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Humanos , Animales , Ratones , Cisplatino/farmacología , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Pulmonares/genética , Moléculas de Adhesión Celular/genética , Adenocarcinoma del Pulmón/tratamiento farmacológico , Adenocarcinoma del Pulmón/genética , Modelos Animales de Enfermedad , Microambiente Tumoral , Antígenos CD/genética , Proteínas Ligadas a GPI
4.
BMC Gastroenterol ; 20(1): 154, 2020 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-32414334

RESUMEN

BACKGROUND: Indigo naturalis is a Chinese herbal medicine that has currently been used to treat various inflammatory diseases, including ulcerative colitis. Recently, there are several reports concerning severe adverse events associated with indigo naturalis. CASE PRESENTATION: We described a case of a 44-year-old female with ulcerative colitis who presented with lower abdominal pain and hematochezia. She stopped taking her medicine for ulcerative colitis and started oral indigo naturalis 3 months before admission. Computed tomography showed segmental edematous wall thickening of the descending and sigmoid colon. Colonoscopy findings revealed erythema, edema, and submucosal hemorrhage, the surface of which presented a dark blue pigmentation. The histologic finding was consistent with ischemic colitis. We therefore considered an ischemic colitis induced by indigo naturalis, and the patient improved after supportive care and withdrawal of indigo naturalis. CONCLUSION: Indigo naturalis has currently been used in the patients with ulcerative colitis as an alternative therapy. However, physicians should be aware of possible severe adverse events such as ischemic colitis.


Asunto(s)
Colitis Isquémica/inducido químicamente , Colitis Ulcerosa/tratamiento farmacológico , Medicamentos Herbarios Chinos/efectos adversos , Carmin de Índigo/efectos adversos , Adulto , Femenino , Humanos
5.
Clin Chem Lab Med ; 58(9): 1547-1555, 2020 08 27.
Artículo en Inglés | MEDLINE | ID: mdl-32229655

RESUMEN

Background: Cell-free DNA (cfDNA) is emerging as a surrogate sample type for mutation analyses. We investigated the suitability of malignant pleural effusion (MPE) and plasma as a biomaterial for analyzing epidermal growth factor receptor (EGFR) mutation by peptide nucleic acid (PNA) clamping-assisted fluorescence melting curve (PANAMutyper™) analysis. Methods: Matched tissue, MPE cell block (MPE-CB), MPE supernatant, and plasma samples were collected from patients with advanced lung adenocarcinoma who had a MPE at the time of diagnosis. EGFR mutation was assessed by PANAMutyper™. Results: Mutation analyses in matched tumor tissues, MPE-CB, MPE supernatant, and/or plasma samples were available for 67 patients. In comparison with tumor tissue and MPE-CB, MPE supernatant exhibited 84.4% sensitivity, 97.1% specificity, 96.4% positive predictive value (PPV), and 87.2% negative predictive value (NPV). In the same comparison, plasma exhibited 70.6% sensitivity, 100.0% specificity, 100.0% PPV, and 73.7% NPV. When sorted by mutation type, MPE supernatant had better sensitivity than plasma for the detection of two major EGFR mutations: 93.8% vs. 75.0% for exon 19 deletion and 73.3% vs. 60.0% for L858R. Conclusions: In this cohort of patients with MPEs, MPE supernatant demonstrated superior diagnostic performance compared with plasma using a PNA-based real-time PCR method.


Asunto(s)
Adenocarcinoma del Pulmón/sangre , Receptores ErbB/genética , Neoplasias Pulmonares/sangre , Derrame Pleural Maligno/química , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , ADN Tumoral Circulante/genética , Receptores ErbB/sangre , Receptores ErbB/química , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación
6.
BMC Cancer ; 19(1): 834, 2019 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-31477048

RESUMEN

BACKGROUND: Metastasis of gastric cancer commonly manifests as a malignant effusion, which presents an alternative cell source for human epidermal growth factor receptor 2 (HER2) status identification. This study aimed to compare HER2 status in primary gastric adenocarcinoma tumors and corresponding cell blocks prepared from malignant effusions (CB-MEs). METHODS: HER2 status was retrospectively evaluated by immunohistochemistry (IHC) in primary gastric adenocarcinomas and paired pathologically confirmed CB-MEs of 45 patients. Silver in situ hybridization (SISH) was also performed in cases with IHC 2+ for primary gastric adenocarcinomas and above IHC 1+ for CB-MEs. RESULTS: HER2 positivity was observed in 4.4% (2/45) of primary gastric adenocarcinomas and 6.7% (3/45) of CB-MEs. The HER2 concordance rate between primary gastric adenocarcinomas and CB-MEs was 88.9% (40/45) (κ = - 0.056). All five patients with HER2 positivity in the primary tumor or a CB-ME had a negative result in the corresponding paired sample. Of the 15 patients with two or more serially sampled CB-MEs, HER2 expression determined by IHC differed between each CB-ME in six (40%) patients, and all three patients with HER2 positivity in CB-MEs exhibited HER2 positivity in one of the serially sampled CB-MEs. CONCLUSIONS: The HER2 positivity rate was very low in gastric cancer patients with malignant effusions. Our results suggest that HER2 positivity was discordant between the primary gastric adenocarcinoma and corresponding CB-MEs and among serially sampled CB-MEs. The possibility of detecting HER2 positivity can be improved if the primary gastric adenocarcinoma tumor as well as all the available CB-MEs from each patient are analyzed.


Asunto(s)
Adenocarcinoma/secundario , Líquido Ascítico/patología , Receptor ErbB-2/metabolismo , Neoplasias Gástricas/fisiopatología , Adenocarcinoma/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Inmunohistoquímica , Hibridación in Situ , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias Gástricas/metabolismo
7.
World J Surg Oncol ; 16(1): 103, 2018 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-29859537

RESUMEN

BACKGROUND: Carcinosarcoma of the salivary gland is a rare aggressive malignant tumor, composed of a mixture of carcinomatous and sarcomatous components. The most common metastatic sites include the lungs, bones, and central nervous system. CASE PRESENTATION: This report describes a rare case of carcinosarcoma of the parotid gland with an osteosarcoma as sarcomatous component in a 72-year-old man who had a history of low anterior resection for rectal cancer. Six months after parotidectomy, he presented abdominal pain as a symptom of abdominal metastasis by the sarcomatous component. At that time, the possibility of abdominal metastasis was overlooked because of the history of abdominal surgery. After several days of conservative treatment, emergency laparotomy was done. However, he died of acute respiratory distress syndrome. CONCLUSIONS: Awareness of the possibility of abdominal metastasis by salivary carcinosarcoma may help in managing patients with a history of abdominal surgery.


Asunto(s)
Neoplasias Abdominales/secundario , Neoplasias Óseas/patología , Carcinosarcoma/patología , Osteosarcoma/patología , Neoplasias de la Parótida/patología , Neoplasias Abdominales/cirugía , Anciano , Neoplasias Óseas/cirugía , Carcinosarcoma/cirugía , Humanos , Masculino , Osteosarcoma/cirugía , Neoplasias de la Parótida/cirugía , Pronóstico , Tasa de Supervivencia
8.
Br J Neurosurg ; 32(6): 688-690, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29334779

RESUMEN

Tenosynovial giant cell tumor of diffuse type is a locally aggressive neoplasm that most commonly arises in the lower extremities. Herein, we report for the first time a case of an extra-articular tenosynovial giant cell tumor of diffuse type in the temporal region with brain parenchymal invasion. Imaging studies revealed an intracranial expansile mass in the temporal bone without involvement of the temporomandibular joint. The unusual location of the tumor without involvement of the joint and the presence of brain parenchymal invasion made this case challenging to diagnose.


Asunto(s)
Neoplasias Encefálicas/patología , Tumor de Células Gigantes de las Vainas Tendinosas/patología , Neoplasias Craneales/patología , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirugía , Tumor de Células Gigantes de las Vainas Tendinosas/radioterapia , Tumor de Células Gigantes de las Vainas Tendinosas/cirugía , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Cuidados Posoperatorios/métodos , Cuidados Preoperatorios/métodos , Radioterapia Adyuvante , Neoplasias Craneales/radioterapia , Neoplasias Craneales/cirugía , Hueso Temporal/patología , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
9.
Mod Pathol ; 30(1): 4-14, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27687005

RESUMEN

The prognostic role of MYC has been well documented in non-central nervous system diffuse large B-cell lymphoma; however, it remains controversial in central nervous system diffuse large B-cell lymphoma. To investigate the prognostic value of MYC, we analyzed the MYC protein expression by immunohistochemistry, mRNA expression by RNA in situ hybridization, and gene status by fluorescence in situ hybridization in 74 cases of central nervous system diffuse large B-cell lymphoma. Moreover, we examined the correlation between MYC translocation, mRNA expression, and protein expression. The mean percentage of MYC immunopositive cells was 49%. Using a 44% cutoff value, 49 (66%) cases showed MYC protein overexpression. The result of mRNA in situ hybridization using the RNA scope technology was obtained using the H-scoring system; the median value was 34.2. Using the cutoff value of 63.5, 16 (22%) cases showed MYC mRNA overexpression. MYC gene rearrangement was detected in five out of 68 (7%) cases. MYC translocation showed no statistically significant correlation with mRNA expression; however, all MYC translocation-positive cases showed MYC protein overexpression, with a higher mean percentage of MYC protein expression than that of translocation-negative cases (78 vs 48%, P=0.001). The level of MYC mRNA expression was moderately correlated with the level of MYC protein expression (P<0.001). The mean percentage of MYC protein expression in the high MYC mRNA group was higher than that in the low MYC mRNA group (70 vs 47%, P<0.001). A univariate analysis showed that age over 60 years, Eastern Cooperative Oncology Group (ECOG) performance status ≥2 and MYC protein overexpression were significantly associated with an increased risk of death. MYC translocation and MYC mRNA expression had no prognostic significance. On multivariate analysis, MYC protein overexpression and ECOG score retained prognostic significance.


Asunto(s)
Neoplasias del Sistema Nervioso Central/metabolismo , Linfoma de Células B Grandes Difuso/metabolismo , Proteínas Proto-Oncogénicas c-myc/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/metabolismo , Neoplasias del Sistema Nervioso Central/genética , Neoplasias del Sistema Nervioso Central/patología , Femenino , Reordenamiento Génico , Humanos , Inmunohistoquímica , Linfoma de Células B Grandes Difuso/genética , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Pronóstico , Proteínas Proto-Oncogénicas c-myc/genética , Adulto Joven
10.
Acta Haematol ; 138(1): 24-30, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28614815

RESUMEN

Langerhans cell histiocytosis (LCH) and Langerhans cell sarcoma (LCS) are clonal proliferations of Langerhans-type cells. Unlike in LCH, the pathophysiology and clinical course of LCS are unclear due to its rarity. Here, we report the case of a 73-year-old male patient who was diagnosed with cutaneous LCH and pulmonary LCS at the same time. Pathological review of these 2 tumors revealed similar immunohistochemical findings. However, the tumor cells in LCS had more aggressive cytological features than those in LCH. Results of BRAF mutation analysis using real-time PCR were negative for both tumors. In whole-exome sequencing (WES), stop-gain mutations in TP53 gene were discovered only in LCS cells. The mechanism of development of LCS from various progenitor cells is currently unclear. According to the results of the WES study, changes in TP53 gene might have contributed to the malignant features of LCS.


Asunto(s)
Histiocitosis de Células de Langerhans/diagnóstico , Sarcoma de Células de Langerhans/diagnóstico , Anciano , Análisis Mutacional de ADN , Secuenciación de Nucleótidos de Alto Rendimiento , Histiocitosis de Células de Langerhans/genética , Histiocitosis de Células de Langerhans/patología , Humanos , Inmunohistoquímica , Sarcoma de Células de Langerhans/genética , Sarcoma de Células de Langerhans/patología , Masculino , Mutación , Mutación Missense , Tomografía de Emisión de Positrones , Proteínas Proto-Oncogénicas B-raf/genética , Tomografía Computarizada por Rayos X , Proteína p53 Supresora de Tumor/genética
11.
BMC Womens Health ; 17(1): 49, 2017 07 24.
Artículo en Inglés | MEDLINE | ID: mdl-28738795

RESUMEN

BACKGROUND: We aimed to investigate the role of surgical excision in treating granulomatous lobular mastitis. METHODS: We performed a retrospective chart review of patients with granulomatous lobular mastitis treated from March 2008 to March 2014. We analyzed clinical features and therapeutic modalities and compared the patient outcomes based on treatment. RESULTS: During the study period, a total of 34 patients were diagnosed with granulomatous lobular mastitis and treated. Initial treatments included wide excision (18), oral steroids after incision and drainage (14), and antibiotic therapy (2). The patients receiving only antibiotic therapy showed no improvement after 1 month and wide excision was then performed. Wide excision resulted in nine case of delayed wound healing with fistula. These patients were treated with oral steroids for 1.5-5 months, with subsequent improvement. Overall, 11 out of 20 patients who had underwent wide excision showed improvement without additional treatment. Fourteen patients who had initially received oral steroids for 1 to 6 months (average, 2.8 months) after incision and drainage showed complete remission. During the median follow-up period with 45.5 months (range, 22-98 months), six patients (17.6%) experienced recurrence. Wide excision group experienced recurrence in five (25%) and steroid and drainage group experienced recurrence in one (7.1%). All six recurrences responded to additional steroid therapy for average 3.5 months. Most wide excision group left extensive breast scarring with deformation that was not in steroid and drainage group. CONCLUSIONS: Wide excision resulted high recurrence than steroid and drainage group and left extensive scarring. Steroid therapy with or without abscess drainage may be the first choice of treatment for majority cases with granulomatous lobular mastitis.


Asunto(s)
Mama/cirugía , Mastitis Granulomatosa/terapia , Mastectomía/efectos adversos , Complicaciones Posoperatorias/etiología , Adulto , Antibacterianos/administración & dosificación , Mama/patología , Terapia Combinada , Drenaje/métodos , Femenino , Mastitis Granulomatosa/patología , Humanos , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Recurrencia , Estudios Retrospectivos , Esteroides/administración & dosificación , Resultado del Tratamiento , Adulto Joven
12.
J Korean Med Sci ; 29(1): 145-8, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24431920

RESUMEN

A mediastinal mass was incidentally found on chest radiography in a 46-yr-old woman who had had myasthenia gravis (MG) for 2 months. Computed tomography revealed a 4-cm in size, well-defined, and lobulating mass with nodular calcification that was located in the thymus. Microscopically, the mass consisted of diffuse amorphous eosinophilic materials. These deposits exhibited apple-green birefringence under polarized light microscopy after Congo red staining. Immunohistochemical analysis revealed that they were positive for both kappa and lambda light chains and negative for amyloid A. A diagnosis of localized primary thymic amyloidosis was finally made. After thymectomy, the symptoms of MG were controlled with reduced corticosteroid requirements. Localized thymic amyloidosis associated with MG has not been reported to date.


Asunto(s)
Amiloidosis/diagnóstico por imagen , Amiloidosis/cirugía , Calcinosis/diagnóstico por imagen , Calcinosis/cirugía , Miastenia Gravis/complicaciones , Amiloidosis/complicaciones , Femenino , Humanos , Cadenas kappa de Inmunoglobulina/inmunología , Cadenas lambda de Inmunoglobulina/inmunología , Mediastino/diagnóstico por imagen , Mediastino/cirugía , Persona de Mediana Edad , Radiografía Torácica , Timectomía , Timo/diagnóstico por imagen , Timo/cirugía , Tomografía Computarizada por Rayos X
13.
Diagn Pathol ; 19(1): 16, 2024 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-38243242

RESUMEN

BACKGROUND: Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell neoplasm (PEComa) family. The majority of EAMLs arise in the kidneys, and primary hepatic EAML appears to be much less common than renal EAML. Most PEComas arise sporadically, but may be associated with tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder characterized by germline mutations in the TSC1 or TSC2 genes. However, PEComas have previously been reported in five patients with Li-Fraumeni syndrome (LFS), which is an inherited cancer susceptibility disorder resulting from germline mutations in the TP53 tumor suppressor gene. CASE PRESENTATION: We report a 49-year-old female patient with hepatic EAML and pancreatic cancer. Because she had previously been diagnosed with bilateral breast cancer at the age of 30, we performed a comprehensive genetic analysis to identify genetic alterations associated with any cancer predisposition syndrome. Whole-exome sequencing of a blood sample identified a heterozygous germline variant of TP53 (NM_000546.5):c.708C>A, and targeted next-generation sequencing of liver EAML and pancreatic cancer tissue samples demonstrated the same TP53 (NM_000546.5):c.708C>A variant in both. This, plus the patient's history of early-onset breast cancer, met the 2015 version of the Chompret criteria for diagnosis of LFS. CONCLUSIONS: There have been very few case reports regarding the presence of PEComa in LFS, and to the best of our knowledge, this is the first report of EAML of the liver in a patient with LFS.


Asunto(s)
Angiomiolipoma , Neoplasias de la Mama , Neoplasias Renales , Síndrome de Li-Fraumeni , Neoplasias Hepáticas , Neoplasias Pancreáticas , Femenino , Humanos , Persona de Mediana Edad , Síndrome de Li-Fraumeni/complicaciones , Síndrome de Li-Fraumeni/diagnóstico , Síndrome de Li-Fraumeni/genética , Angiomiolipoma/diagnóstico , Angiomiolipoma/genética , Angiomiolipoma/patología , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/genética , Neoplasias Renales/patología , Predisposición Genética a la Enfermedad
14.
Int J Cancer ; 133(3): 645-52, 2013 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-23354517

RESUMEN

Circulating cell-free microRNAs (miRNAs) are potential cancer biomarkers. The aim of this study was to identify miRNAs that are differentially expressed between benign pleural effusion (BPE) and lung adenocarcinoma-associated malignant pleural effusion (LA-MPE). The expression level of cell-free miRNA was investigated in 107 patients with pleural effusion. Microarrays were used to screen 160 miRNAs in a discovery set comprising 20 effusion samples (ten BPEs and ten LA-MPEs). Real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to validate the profiling results obtained for the discovery set and those obtained for a validation set comprising 42 BPEs and 45 LA-MPEs. The area under the receiver operating characteristic curve (AUC) was used to evaluate the diagnostic performance of the identified miRNAs and other common tumor markers, such as carcinoembryonic antigen (CEA) and cytokeratin fragment (CYFRA) 21-1. Microarray profiling showed that miR-198 was significantly downregulated in LA-MPE compared with BPE (p = 0.002). The miRNA microarray analysis results were confirmed by qRT-PCR (p < 0.001) using the validation set. The AUCs for miR-198, CEA and CYFRA 21-1 in the validation set were 0.887, 0.898 and 0.836, respectively. The diagnostic performance of miR-198 was comparable with that of CEA, but better than that of CYFRA 21-1. The AUC for all three markers combined was 0.926 (95% confidence interval, 0.843-0.973) with a sensitivity of 89.2% and a specificity of 85.0%. The present study suggests that cell-free miR-198 from patients with pleural effusion might have diagnostic potential for differentiating LA-MPE from BPE.


Asunto(s)
Adenocarcinoma/genética , Antígenos de Neoplasias/sangre , Antígeno Carcinoembrionario/sangre , Queratina-19/sangre , Neoplasias Pulmonares/genética , MicroARNs/sangre , Derrame Pleural Maligno/diagnóstico , Derrame Pleural Maligno/genética , Adenocarcinoma/diagnóstico , Adenocarcinoma del Pulmón , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/genética , Diagnóstico Diferencial , Regulación hacia Abajo , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico , Masculino , Persona de Mediana Edad , Análisis de Secuencia por Matrices de Oligonucleótidos , Curva ROC , Adulto Joven
15.
World J Clin Cases ; 11(33): 8058-8064, 2023 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-38075582

RESUMEN

BACKGROUND: Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of extranodal lymphoma. In particular, the Asian variant of IVLBCL is characterized by hemophagocytic lymphohistiocytosis along with bone marrow involvement. However, central nervous system (CNS) involvement is uncommon in this variant compared to the Western variant. Here, we report a case of typical Asian variant IVLBCL with highly suspected CNS involvement and discuss the nature of the disease and its genetic aberration. CASE SUMMARY: A 67-year-old female patient complained of gradually worsening cognitive impairment. While hospitalized, she developed a high fever and showed marked bicytopenia. Intracranial imaging revealed a suspected leptomeningeal disease. Although no malignant cells were found in the cerebrospinal fluid (CSF), the protein and lactate dehydrogenase levels in CSF were increased. Bone marrow examination revealed an increased number of hemophagocytic histiocytes, and 18F-fluorodeoxyglucose (FDG) positron emission tomography with computerized tomography scan revealed increased FDG uptake in both adrenal glands, the liver, and the right ethmoid sinus. A tissue biopsy showed atypical large lymphoid cells with prominent nucleoli in the vessels, and the tumor cells were positive for CD20, BCL2, BCL6, and IRF4/MUM1. In addition, targeted sequencing identified MYD88, TET2, and PIM1 mutations. Consequently, we diagnosed the patient with the Asian variant of IVLBCL with highly suspected CNS involvement. CONCLUSION: Suspicion of IVLBCL and immediate diagnosis lead to timely treatment. Moreover, careful CNS examination at diagnosis is recommended.

16.
J Int Med Res ; 51(8): 3000605231194902, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37632411

RESUMEN

Malignant transformation of a heterotopic pancreas in the duodenum is very rare. To our knowledge, only 15 cases have been reported worldwide, including the present case. We herein report a rare case of malignant transformation of a heterotopic pancreas in the duodenum along with a review of the literature.A 65-year-old man was admitted to our hospital for evaluation of dyspepsia and vomiting. Esophagogastroduodenoscopy showed a stricture of the duodenal bulb. Laparoscopic distal gastrectomy was performed. Although a duodenal tumor had not been suspected, histopathological examination of the surgical specimen showed adenocarcinoma arising from a heterotopic pancreas (Heinrich type III) in the duodenum. Four months postoperatively, the patient received adjuvant chemotherapy. He was still alive without recurrence at 24 months of follow-up.Adenocarcinoma arising in a heterotopic pancreas is rare; therefore, preoperative diagnosis is difficult to obtain. Effective management of a heterotopic pancreas depends on the presence or absence of symptoms. Awareness of the possibility of malignant change in a heterotopic pancreas of the duodenum prior to surgery is helpful for the diagnosis and appropriate management of such patients.


Asunto(s)
Adenocarcinoma , Duodeno , Masculino , Humanos , Anciano , Duodeno/cirugía , Adenocarcinoma/cirugía , Quimioterapia Adyuvante , Constricción Patológica , Páncreas/diagnóstico por imagen , Páncreas/cirugía
17.
Int J Surg Pathol ; 31(6): 1021-1026, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36172742

RESUMEN

Snail family transcriptional repressor 2 (SNAI2, Slug) is a transcription factor that belong to the Slug/Snail superfamily. Site specific phosphorylation of slug (pSlugS158) is detected during the M phase, and thus, this phosphorylated protein is considered a novel marker for detecting mitotic figures. Herein, we investigated whether the detection of mitosis using pSlugS158 expression can be used in the histological grading of meningioma. We performed immunohistochemistry for pSlugS158 and PHH3 in tissue samples of 61 patients with meningioma and examined the association between mitotic counts using pSlugS158 and recurrence-free survival (RFS). The nuclear expression of pSlugS158 was observed in the cell with mitotic figures. Tumor grading based on pSlugS158 was significantly associated with the RFS (p < .001). It can be concluded that pSlugS158 is a useful and practical marker to detect mitosis and seems to be reliable for the counting of mitoses in histological grading of meningioma.


Asunto(s)
Neoplasias Meníngeas , Meningioma , Humanos , Meningioma/diagnóstico , Meningioma/patología , Histonas/metabolismo , Índice Mitótico , Inmunohistoquímica , Mitosis , Clasificación del Tumor , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/patología , Biomarcadores de Tumor
18.
J Int Med Res ; 51(5): 3000605231172469, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37198972

RESUMEN

Primary retroperitoneal mucinous cystic neoplasms are rare retroperitoneal tumors, which are histologically similar to mucinous cystic neoplasms of the ovaries. Only 31 cases of primary retroperitoneal mucinous cystic neoplasm with borderline malignancy (PRMCN-BM) have been reported (26 in women and five in men). We describe an additional male patient with PRMCN-BM. A 39-year-old man presented to our hospital with back pain. Twelve years earlier, he had undergone an orchiectomy for a germ cell tumor. Computed tomography showed a 6.9- × 4.4-cm cystic mass in the left pararenal space. Laparoscopic mass excision was performed, and a unilocular cystic mass was found in the pararenal space near the lower pole of the left kidney. A histopathological examination showed a cyst lined by atypical mucinous intestinal epithelium without stromal invasion. Targeted next-generation sequencing identified two hotspot mutations, with one each in the KRAS and GNAS genes. Outpatient follow-up 10 months after surgery showed no evidence of tumor recurrence. PRMCNs are extremely rare retroperitoneal neoplasms, especially in men. These neoplasms are rarely considered in the differential diagnosis of retroperitoneal masses, and their preoperative diagnosis is difficult. Evaluation of additional patients is required to better determine the prognosis of PRMCNs and the optimal postoperative follow-up.


Asunto(s)
Cistoadenoma Mucinoso , Quistes , Neoplasias Quísticas, Mucinosas y Serosas , Neoplasias Retroperitoneales , Adulto , Humanos , Masculino , Cromograninas/genética , Cistoadenoma Mucinoso/diagnóstico , Cistoadenoma Mucinoso/patología , Cistoadenoma Mucinoso/cirugía , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Mutación , Recurrencia Local de Neoplasia , Proteínas Proto-Oncogénicas p21(ras)/genética , Neoplasias Retroperitoneales/diagnóstico por imagen , Neoplasias Retroperitoneales/genética , Neoplasias Retroperitoneales/cirugía
19.
Oncol Lett ; 25(6): 227, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37153035

RESUMEN

Inflammatory myofibroblastic tumors (IMTs), which are rare tumors, exhibit myofibroblastic differentiation, often with anaplastic lymphoma kinase (ALK) gene rearrangements. A subset of IMTs identified in the urinary tract have been shown to harbor a fibronectin 1 (FN1)-ALK gene fusion. In this case report, a case of an IMT with FN1-ALK fusion in the urinary bladder was presented, and its clinicopathological characteristics were reviewed. A 45-year-old female was referred to Chungbuk National University Hospital with gross hematuria. Cystoscopy revealed a solid mass in the bladder. The patient subsequently underwent transurethral resection of the lesion. The mass comprised stellate and spindled myofibroblastic cells that were arranged in loose fascicles, with a myxoid background and a mixed inflammatory infiltrate. Immunohistochemical analysis revealed that the tumor cells were positive for vimentin, cytokeratin AE1/AE3 and ALK, and focal-positive for desmin. Targeted next-generation sequencing was subsequently employed to identify the FN1-ALK fusion. To date, the patient has undergone outpatient follow-up for 18 months, with no signs of tumor recurrence. To conclude, in total, FN1 has been identified as an ALK fusion partner almost exclusively in cases of genitourinary IMTs [13 bladder IMTs (including the present case) and two uterine IMTs]. In the present case, the FN1-ALK fusion was found to involve ALK exon 19 and FN1 exon 23. By contrast, the majority of the other IMTs with an ALK fusion have involved ALK exon 20, whereas ALK fusion involving ALK exon 18 or 19 has been reported only in genitourinary IMTs. Therefore, the FN1-ALK fusion involving ALK exon 18 or 19 may be specific to a subset of IMTs arising in the urinary bladder.

20.
Am J Transl Res ; 15(10): 6247-6254, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37969180

RESUMEN

Peritoneal metastasis from breast cancer is a relatively rare life-threatening condition. The gold standard for diagnosing peritoneal metastasis is a direct peritoneal biopsy. In this report, we describe an interesting case of peritoneal inflammation mimicking peritoneal metastasis in a patient with breast cancer, as confirmed by laparoscopic peritoneal biopsy. A 45-year-old woman with a history of right breast cancer presented with a peritoneal wall mass seen on an abdominal computed tomography (CT) in routine follow-up. She underwent right skin-sparing mastectomy with sentinel lymph node biopsy with direct to implant reconstruction 6 years prior and underwent right salpingo-oophorectomy 2 years before. Positron emission tomography-computed tomography (PET-CT) and abdominopelvic CT showed multiple enhancing nodules in small bowel mesentery and right peritoneal wall with a small amount of ascites, which led to a strong suspicion of peritoneal metastasis. After a multidisciplinary conference, the possibility of peritoneal seeding became doubtful. Laparoscopic biopsy was performed, and peritoneal wall mass biopsy was subsequently performed. Pathologic results showed no evidence of peritoneal metastasis of breast cancer. The peritoneal biopsy specimen revealed postoperative fibrosis and inflammation with some meal content. Although rare in breast cancer, peritoneal metastasis can produce a devastating outcome if left undiagnosed. Despite the imaging findings strongly suggesting metastasis, biopsy confirmation for the suspected lesion was necessary. This not only verifies true metastasis but also determines the treatment options available for the patient and thus unnecessary treatment can be avoided.

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