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1.
Intest Res ; 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38712359

RESUMEN

Background/Aims: Poorly differentiated adenocarcinoma, signet-ring cell carcinoma, and mucinous adenocarcinoma (por/sig/muc), which are considered to be histologic subtypes with a poor prognosis, occur more frequently with colitis-associated cancer than with sporadic tumors. However, their invasiveness and manifestations are unclear. This study aimed to determine the prevalence of the por/sig/muc component in ulcerative colitis-associated neoplasms (UCANs) and its association with invasiveness and to clarify its clinicohistologic and endoscopic features. Methods: This retrospective observational study included patients diagnosed with ulcerative colitis-associated high-grade dysplasia or adenocarcinoma from 1997 to 2022 who were divided according to the presence or absence of a por/sig/muc component. Results: Thirty-five patients had UCAN with a por/sig/muc component and 66 had UCAN without this component. The 5-year survival rate was significantly lower in the por/sig/muc group than in the tub group (67% vs. 96%, P= 0.001), which was attributed to disease above stage III and depth to below the subserosa. Biopsy-based diagnosis before resection detected a por/sig/muc component in only 40% of lesions (14/35). Lesions with a por/sig/muc component were prevalent even in the early stages: stage 0 (4/36, 11%), I (8/20, 40%), II (7/12, 58%), III (10/14, 71%), and IV (6/8, 75%). Conclusions: This is the first investigation that shows UCANs with a por/sig/muc component tended to be deeply invasive and were often not recognized preoperatively. Endoscopists should be aware that UCAN often has a por/sig/muc component that is not always recognized on biopsy, and the optimal treatment strategy needs to be carefully considered.

2.
Clin J Gastroenterol ; 16(5): 755-760, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37269479

RESUMEN

Metastatic pancreatic cancer is a rare condition and cases of pancreatic metastasis from cervical cancer are infrequently reported. Furthermore, the incidence rates of pancreatic tumors as the cause of pancreatitis and of pancreatitis in patients with pancreatic tumors are similarly low. Pancreatitis may occur when a tumor obstructs the pancreatic duct. This condition may be difficult to manage and significantly reduces the quality of life because of severe abdominal pain. Here, we present a rare case of obstructive pancreatitis caused by pancreatic metastasis from cervical squamous-cell carcinoma, pathologically confirmed using endoscopic ultrasonography-guided fine-needle biopsy and treated with palliative irradiation to achieve rapid therapeutic relief. It is important to obtain appropriate tissue samples, confirm the pathological diagnosis, and compare the pathological findings with those of the primary tumor to select the appropriate treatment for obstructive pancreatitis caused by a metastatic pancreatic tumor.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias Pancreáticas , Pancreatitis Crónica , Neoplasias del Cuello Uterino , Femenino , Humanos , Neoplasias del Cuello Uterino/radioterapia , Neoplasias del Cuello Uterino/patología , Calidad de Vida , Páncreas/patología , Neoplasias Pancreáticas/patología , Carcinoma de Células Escamosas/radioterapia , Carcinoma de Células Escamosas/patología
3.
Gynecol Oncol ; 170: 70-76, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36638744

RESUMEN

OBJECTIVE: This multicenter study aimed to evaluate the accuracy of the one-step nucleic acid amplification (OSNA) assay in diagnosing lymph node metastasis (LNM) in patients with cervical and endometrial cancers. METHODS: Surgically removed LNs from patients with cervical and endometrial cancer were sectioned at 2-mm intervals along the short axis direction and alternately examined using the OSNA assay and conventional histopathological examination. Ultrastaging (200-µm LN sections) was performed for metastatic LNs using hematoxylin and eosin staining and immunostaining with an anti-CK19 antibody in cases where the OSNA assay and histopathological examination (performed using 2-mm LN sections) results showed discordance. RESULTS: A total of 437 LNs from 133 patients were included; 61 patients (14%) showed metastasis by histopathological examination, with a concordance rate of 0.979 (95% confidence interval [CI]: 0.961-0.991) with the OSNA assay. The sensitivity and specificity of the OSNA assay were 0.918 (95% CI: 0.819-0.973) and 0.989 (95% CI: 0.973-0.997), respectively. Discordance between the two methods was observed in nine LNs (2.1%), and allocation bias of metastatic foci was identified as the major cause of discordance. CONCLUSIONS: The OSNA assay showed equally accurate detection of LN metastasis as the histopathological examination. We suggest that the OSNA assay may be a useful tool for the rapid intraoperative diagnosis of LN metastasis in patients with cervical and endometrial cancers.


Asunto(s)
Neoplasias de la Mama , Neoplasias Endometriales , Ácidos Nucleicos , Humanos , Femenino , Metástasis Linfática/patología , Estudios Prospectivos , Técnicas de Amplificación de Ácido Nucleico/métodos , Neoplasias Endometriales/patología , Ganglios Linfáticos/patología , Biopsia del Ganglio Linfático Centinela , Queratina-19/genética , Neoplasias de la Mama/patología
4.
Intern Med ; 62(2): 243-249, 2023 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-35705275

RESUMEN

The precise manipulation of immune tolerance is the holy grail of immunotherapies for both autoimmunity and cancer immunity. Thymomas are well known to be associated with autoimmune diseases. The exact mechanism by which autoreactivity is induced after thymectomy remains to be elucidated. We herein present the case of a 50-year-old lady with concurrent de novo type 1 autoimmune hepatitis (AIH) and pure red cell aplasia (PRCA), 1 month after undergoing a successful total thymectomy for combined squamous cell carcinoma and thymoma (Masaoka stage II). Corticosteroids yielded short-term effects for both AIH and PRCA. Literature on thymoma-associated AIH, an extremely rare immune-related comorbidity, was also reviewed.


Asunto(s)
Hepatitis Autoinmune , Aplasia Pura de Células Rojas , Timoma , Neoplasias del Timo , Femenino , Humanos , Persona de Mediana Edad , Timoma/complicaciones , Timoma/cirugía , Timectomía/efectos adversos , Hepatitis Autoinmune/complicaciones , Neoplasias del Timo/complicaciones , Neoplasias del Timo/cirugía , Aplasia Pura de Células Rojas/complicaciones , Autoanticuerpos
5.
Int J Gynaecol Obstet ; 160(2): 554-562, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35929845

RESUMEN

OBJECTIVE: To evaluate the accuracy of preoperative endometrial biopsy and magnetic resonance imaging (MRI) of endometrial cancer compared with that of intraoperative frozen section. METHODS: This retrospective study included 264 patients who underwent surgery with intraoperative frozen section for endometrial cancer at our institution between 2014 and 2018. Diagnosis was determined by histologic type, grade, and myometrial invasion. Concordance rate, sensitivity, and specificity of preoperative diagnosis and intraoperative frozen diagnosis were calculated, in comparison to the final pathologic diagnosis. RESULTS: Preoperative and intraoperative diagnoses showed no statistically significant difference in determining histologic type and grade (P = 0.152). Intraoperative diagnosis showed higher sensitivity for endometrioid carcinoma grade 3 and other types, and higher specificity for grade 1. For myometrial invasion, intraoperative diagnosis showed significantly higher concordance rate than preoperative MRI findings (P < 0.01). Intraoperative diagnosis showed higher sensitivity and specificity in patients with and without myometrial invasion, respectively. CONCLUSION: Higher agreement between intraoperative and final diagnoses, especially in myometrial invasion, suggests that intraoperative frozen section is a good indicator for appropriate surgical procedure decision making.


Asunto(s)
Neoplasias Endometriales , Secciones por Congelación , Femenino , Humanos , Estudios Retrospectivos , Miometrio/diagnóstico por imagen , Miometrio/cirugía , Miometrio/patología , Invasividad Neoplásica/patología , Neoplasias Endometriales/diagnóstico por imagen , Neoplasias Endometriales/cirugía , Imagen por Resonancia Magnética , Estadificación de Neoplasias
6.
J Gynecol Oncol ; 33(4): e50, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35557033

RESUMEN

OBJECTIVE: Precursor lesions may be identified in fallopian tube tissue after risk-reducing salpingo-oophorectomy (RRSO) in patients with pathogenic variants of BRCA1/2. Serous tubal intraepithelial carcinoma (STIC) is considered a precursor of high-grade serous carcinoma, whereas the significance of the p53 signature remains unclear. In this study, we investigated the relationship between the p53 signature and the risk of ovarian cancer. METHODS: We analyzed the clinicopathological findings and conducted DNA sequencing for TP53 variants of p53 signatures and STIC lesions isolated using laser capture microdissection in 13 patients with pathogenic variants of BRCA1/2 who underwent RRSO and 17 control patients with the benign gynecologic disease. RESULTS: TP53 pathogenic variants were detected significantly higher in RRSO group than control (p<0.001). No difference in the frequency of p53 signatures were observed between groups (53.8% vs 29.4%; p=0.17). TP53 sequencing and next-generation sequencing analysis in a patient with STIC and occult cancer revealed 2 TP53 mutations causing different p53 staining for STICs and another TP53 mutation shared between STIC and occult cancer. CONCLUSION: The sequence analysis for TP53 revealed 2 types of p53 signatures, one with a risk of progression to STIC and ovarian cancer with pathological variants in TP53 and the other with a low risk of progression without pathological variants in TP53 as seen in control.


Asunto(s)
Cistadenocarcinoma Seroso , Neoplasias de las Trompas Uterinas , Neoplasias Ováricas , Cistadenocarcinoma Seroso/genética , Cistadenocarcinoma Seroso/patología , Neoplasias de las Trompas Uterinas/patología , Trompas Uterinas/patología , Femenino , Humanos , Mutación , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Salpingooforectomía , Proteína p53 Supresora de Tumor/genética
8.
World J Surg Oncol ; 20(1): 8, 2022 Jan 07.
Artículo en Inglés | MEDLINE | ID: mdl-34996471

RESUMEN

BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma mainly treated via surgical resection. Herein, we report a case of MPNST wherein a massive tumor thrombus extended to the major veins and heart. CASE PRESENTATION: A 39-year-old female with a history of neurofibromatosis type 1 developed MPNST from the right radial nerve. In addition to adjuvant chemotherapy, she underwent wide tumor resection and concomitant radial nerve resection, followed by postoperative radiotherapy. Histological evaluation revealed marked venous invasion. The 2-year follow-up CT revealed an asymptomatic recurrent tumor thrombus extending from the right subclavian vein to the heart. An urgent life-saving operation was performed to ligate the base of the right subclavian vein and remove the entire intravenous thrombus that extended to the right ventricle. The remaining tumor in the right subclavian vein increased in size 3 months after thrombectomy. After confirming the absence of any metastatic lesions, the patient underwent extended forequarter amputation to achieve surgical remission. One year later, a new metastasis to the right diaphragm was safely resected. The patient remains alive without any evidence of disease 2 years after the extended forequarter amputation. CONCLUSIONS: In cases of a previous history of microscopic venous invasion, recurrence can occur as a massive tumor thrombus that extends to the great vessels.


Asunto(s)
Neurofibromatosis 1 , Neurofibrosarcoma , Neoplasias de los Tejidos Blandos , Trombosis , Adulto , Femenino , Humanos , Recurrencia Local de Neoplasia/cirugía , Trombosis/etiología , Trombosis/cirugía
9.
Laryngoscope ; 132(1): 96-102, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34245171

RESUMEN

OBJECTIVE: The histological grade of parotid gland carcinoma (PGC) is an important prognostic factor; however, the diagnosis prior to treatment has been challenging to make. This study aimed to investigate whether the pretreatment clinical findings, including hematological inflammatory, nutritional, and immune markers, could predict the histological grade of PGC. STUDY DESIGN: Retrospective study. METHODS: We retrospectively enrolled 111 patients with PGC and evaluated the correlation between histological grade and pretreatment clinical findings such as age, sex, tumor staging, facial nerve paralysis, pain or tenderness, adhesion to the surrounding tissues or tumor immobility, and hematological markers. RESULTS: Sixty patients (54%) were diagnosed with histological high-grade PGC. Univariate analysis revealed that age, T classification, N classification, TNM stage, facial nerve paralysis, adhesion/immobility, C-reactive protein (CRP), and CRP-to-albumin ratio (CAR) were significant predictors of PGC histological grade. On multivariate analysis, high T classification (T3, 4), high N classification (≥1), and elevated CRP (≥0.22 mg/dL) were independent predictors of high-grade PGC. CONCLUSIONS: Pretreatment T classification, N classification, and CRP are significant predictors of the histological grading of PGC. Our results are useful for treatment planning and obtaining appropriate informed consent from the patients before treatment. LEVEL OF EVIDENCE: 4 Laryngoscope, 132:96-102, 2022.


Asunto(s)
Neoplasias de la Parótida/patología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/sangre , Parálisis Facial/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Glándula Parótida/patología , Neoplasias de la Parótida/clasificación , Neoplasias de la Parótida/complicaciones , Neoplasias de la Parótida/diagnóstico , Pronóstico , Estudios Retrospectivos , Factores Sexuales , Adulto Joven
10.
Gan To Kagaku Ryoho ; 49(13): 1437-1439, 2022 Dec.
Artículo en Japonés | MEDLINE | ID: mdl-36733094

RESUMEN

A 40-year-old man visited our hospital with rectal submucosal tumors measuring 5 mm and the 7 mm as detected by colonoscopy, following which an endoscopic submucosal resection was performed. Pathological examination revealed that the tumors was neuroendocrine tumor(NET); the tumor measuring 5 mm was NET G1 without lymphatic and venous invasion, while the 7 mm size was NET G2 with venous invasion but without lymphatic invasion. Lymph node and distant metastasis were not observed by computed tomography. Informed consent was obtained and he agreed to undergo additional rectal resection. Laparoscopic low anterior resection was performed and pathological examination enabled a diagnosis of rectal neuroendocrine tumor with regional lymph node metastases(T1a, N1, M0, Stage ⅢB[Union for International Cancer Control 8th edition]). Post-surgery, he was followed up for 3 years, without recurrence. This report suggests that the determination of treatment plan for rectal neuroendocrine tumor measuring less than 1 cm in diameter should be done carefully.


Asunto(s)
Tumores Neuroendocrinos , Neoplasias del Recto , Masculino , Humanos , Adulto , Metástasis Linfática , Tumores Neuroendocrinos/secundario , Neoplasias del Recto/cirugía , Neoplasias del Recto/patología , Colonoscopía
11.
Ear Nose Throat J ; : 1455613211065510, 2021 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-34904447

RESUMEN

Middle ear tumors are relatively rare, and among them, the diagnoses of middle ear lesions originating from cartilage-like tissue are even rarer. Use of transcanal endoscopic ear surgery (TEES) has increased in recent years because of its advantages, such as clear visual field and minimally invasive procedure. Here, we report a middle ear mass originating from cartilage-like tissue treated with TEES. A 62-year-old woman presented with progressive right-sided hearing loss. A white mass was revealed through the tympanic membrane, and pure-tone audiometry detected a mean 50.0 dB conductive hearing loss. Computed tomography showed a mass in the tympanic cavity. TEES was performed for diagnosis and treatment. A white translucent tumor was observed intraoperatively, and it was completely resected. Histopathological examination confirmed the diagnosis of a mass originating from degenerated cartilage-like tissue. To the best of our knowledge, this is the first study of a middle ear mass originating from cartilage-like tissue treated with TEES. TEES with its clear visual field and precise techniques was beneficial in treating the middle ear lesions circumscribed in the tympanic cavity.

12.
JAMA Dermatol ; 157(9): 1107-1111, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34259802

RESUMEN

IMPORTANCE: Neonatal linear immunoglobulin A (IgA) bullous dermatosis (LABD) is a rare disease that can be fatal when associated with respiratory failure. All previously reported cases of neonatal LABD have been in newborns with healthy asymptomatic mothers, and the pathogenic IgA was of unknown origin. OBJECTIVE: To clarify the origin of IgA associated with LABD in neonates born of healthy asymptomatic mothers. DESIGN, SETTING, AND PARTICIPANTS: This case study analyzed the laboratory findings of a single breast-fed newborn male with neonatal LABD admitted to the Keio University Hospital in Tokyo and his healthy asymptomatic mother. The healthy newborn developed life-threatening blisters and erosions of the skin and mucous membranes on day 4 after birth. Blood serum, skin, and maternal breast milk were examined for IgA autoantibodies. MAIN OUTCOMES AND MEASURES: Histopathologic and immunofluorescence analyses of specimens (serum, skin, and breast milk) from the patient and his mother. RESULTS: Histopathologic evaluation of the newborn's skin revealed subepidermal blisters with neutrophil infiltrates, and immunofluorescence testing showed linear IgA deposition along the basement membrane zone (BMZ), which lead to the diagnosis of neonatal LABD. Indirect immunofluorescence using normal human skin after treatment with 1-mol/L sodium chloride showed the patient to have circulating IgA binding to the dermal side of BMZ. Immunohistochemical staining proved the deposition of secretory IgA in the neonatal skin by demonstrating the presence of J chain-not been seen in other LABD cases-indicating that the autoantibodies producing the blisters were derived from the maternal breast milk. Although no circulating IgA against the skin was detected in mother's sera, the breast milk contained IgA that reacted with the dermal side of the BMZ. No new blister formation was observed after cessation of breastfeeding. CONCLUSIONS AND RELEVANCE: The results of this case study suggest a passive transfer of pathogenic IgA to a newborn from an asymptomatic mother via breast milk. In prior reports, no serum from asymptomatic mothers of newborns with LABD had IgA autoantibodies binding to skin components; however, in this case, we found that the maternal breast milk contained IgA autoantibodies associated with neonatal LABD. In neonatal LABD, maternal breast milk should be examined for IgA autoantibodies and breast milk feeding should be discontinued as soon as neonatal LABD is suspected.


Asunto(s)
Dermatosis Bullosa IgA Lineal , Autoanticuerpos/análisis , Femenino , Humanos , Inmunoglobulina A/análisis , Recién Nacido , Dermatosis Bullosa IgA Lineal/diagnóstico , Dermatosis Bullosa IgA Lineal/patología , Masculino , Leche Humana/química , Piel/patología
13.
Gynecol Oncol ; 162(3): 679-685, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34272091

RESUMEN

OBJECTIVES: ARID1A mutation is frequently found in clear cell ovarian cancer (CCC) and endometrioid ovarian cancer (EC). Anti-PD-1 monotherapy has been found to have limited efficacy in epithelial ovarian cancer; however, anti-PD-1 therapy showed significant clinical benefit in some CCC. We sought to define the relationship of ARID1A mutation/ARID1A expression to the immunogenic profile of different histologic subtypes of ovarian cancer. METHODS: We performed next-generation sequencing of 160 cancer-related genes. Also, we analyzed the immunohistochemical status of ARID1A, PD-L1, and CD8 with survival in different histologic subtypes of ovarian cancer in a total of 103 cases. RESULTS: ARID1A mutation was found in 0% of the high-grade serous ovarian cancer (HGSC) (n = 36), 41.5% of the CCC (n = 41), 45.0% of the EC (n = 20), and 33.3% of the mucinous ovarian cancer (MC) (n = 6) cases. ARID1A loss was found in 19.4% of the HGSC, 75.6% of the CCC, 60.0% of the EC and 0% of the MC cases. ARID1A mutation was found to be associated with high PD-L1 (p < 0.001) or CD8 levels (p < 0.001) in CCC but not in other histologic subtypes. Meanwhile, ARID1A loss was associated with high PD-L1 or CD8 levels in CCC (p < 0.001) and HGSC (p < 0.001) but not in EC and MC. In addition, ARID1A mutation was associated with high tumor mutation burden in CCC (p = 0.006). CONCLUSIONS: ARID1A mutation/ARID1A expression is associated with immune microenvironmental factors in CCC but not in EC. ARID1A status can be a biomarker for selecting candidates for immune checkpoint blockade in CCC.


Asunto(s)
Carcinoma Epitelial de Ovario/genética , Cistadenocarcinoma Seroso/genética , Proteínas de Unión al ADN/metabolismo , Neoplasias Quísticas, Mucinosas y Serosas/genética , Neoplasias Ováricas/genética , Factores de Transcripción/metabolismo , Biomarcadores de Tumor/genética , Carcinoma Epitelial de Ovario/inmunología , Cistadenocarcinoma Seroso/inmunología , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Mutación , Neoplasias Quísticas, Mucinosas y Serosas/inmunología , Neoplasias Ováricas/inmunología
14.
World J Clin Cases ; 9(19): 5270-5279, 2021 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-34307578

RESUMEN

BACKGROUND: Evidence has been published on the successful applications of the anti-tumor necrosis factor alpha antibody infliximab, such as induction therapy, salvage treatment for acute cellular rejection, and treatment for chronic ulcerative inflammation, in intestinal transplant recipients. However, the optimal protocol for the effective use of infliximab remains largely undetermined due to scarcity of available clinical data. We report a continuative application of infliximab as maintenance therapy for recurrent chronic ulcerative ileitis in a recipient of isolated intestinal transplantation (ITx). CASE SUMMARY: The patient was a 11-year-old boy with intestinal motility disorder classified as a hypogenic type of intestinal dysganglionosis. The patient underwent living-donor related intestinal transplant. His immunosuppression regimen consisted of daclizumab, tacrolimus, and steroids. Although he did not show rejection while on tacrolimus monotherapy, routine screening endoscopy showed several ulcerative lesions in the distal end of the graft 2 years after the intestinal transplant. Endoscopic work up to evaluate the progression of anemia revealed stenosis with ulcerative inflammatory changes and multiple longitudinal ulcers in the graft. Since the endoscopic findings suggested ulcerative lesions in Crohn's disease, infliximab treatment was considered. Treatment with infliximab and a small dose of oral prednisolone afforded successful withdrawal of total parenteral nutrition and maintenance of a well-functioning graft without infectious complications for 5 years since the administration of the first dose of infliximab. CONCLUSION: Infliximab is effective as maintenance therapy for recurrent chronic ulcerative ileitis in an isolated ITx patient.

15.
Clin Exp Dent Res ; 7(6): 1175-1182, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34008925

RESUMEN

OBJECTIVE: Primary osteosarcoma of the jaw bones is very rare, and histological features of gnathic osteosarcoma remain obscure. The purpose of this study was to describe the clinicopathological features of gnathic osteosarcoma. MATERIALS AND METHODS: Seven cases of gnathic osteosarcoma from Japan diagnosed during the period between 2000 and 2016 were examined retrospectively. The histology of the surgical pathology materials was reviewed by two pathologists. Clinical information was obtained from the hospital's information system. RESULTS: Of the seven cases, two patients had secondary osteosarcomas. As for the five cases of primary osteosarcoma, their ages ranged from 26 to 58 years (mean: 36.2, median: 28). Histologically, three cases were fibrotic tumors composed of spindle-shaped cells with mild to moderate nuclear atypia and the collagenous stroma accompanied by woven bones or mature lamellar-like bones. Two cases had cartilage formation. MDM2 and CDK4 expression was observed in two out of three cases on immunostaining. The histopathology of these three cases was regarded as the counterpart of low-grade osteosarcomas, namely, parosteal osteosarcoma and low-grade central osteosarcoma, arising in long bones. CONCLUSIONS: The surprisingly high incidence (60%, 3/5 cases) of low-grade osteosarcoma explains the reason why gnathic osteosarcomas present a more favorable prognosis than osteosarcomas arising in long bones. Furthermore, it provides insight into the tumorigenesis mechanism of low-grade osteosarcomas arising in the jaw and other sites.


Asunto(s)
Neoplasias Óseas , Osteosarcoma , Adulto , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/metabolismo , Neoplasias Óseas/patología , Humanos , Persona de Mediana Edad , Osteosarcoma/metabolismo , Osteosarcoma/patología , Osteosarcoma/cirugía , Pronóstico , Proteínas Proto-Oncogénicas c-mdm2/metabolismo , Estudios Retrospectivos
16.
Jpn J Clin Oncol ; 51(2): 213-217, 2021 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-33037428

RESUMEN

BACKGROUND: Risk-reducing salpingo-oophorectomy is performed for the primary prevention of ovarian cancer in patients with hereditary breast-ovarian cancer syndrome. We performed risk-reducing salpingo-oophorectomy for the first time in Japan in 2008, and we experienced 20 cases of risk-reducing salpingo-oophorectomy through 2019. In the past, the use of risk-reducing salpingo-oophorectomy in Japan was restricted because it was not covered by a Japanese National Health Insurance. Since April 2020, risk-reducing salpingo-oophorectomy has been covered by insurance for patients with breast-ovarian cancer syndrome and pre-existing breast cancer, and this surgery is expected to become more widely implemented in Japan. METHODS: To contribute to the widespread use of risk-reducing salpingo-oophorectomy in the future, we retrospectively reviewed 20 cases of risk-reducing salpingo-oophorectomy at our hospital cohort study to clarify the issues in its implementation. RESULTS: The variant genes for which risk-reducing salpingo-oophorectomy was indicated were BRCA1 and BRCA2 in 13 (65%) and 7 patients (35%), respectively. The median age at which risk-reducing salpingo-oophorectomy was performed was 49 years (range, 38-58), 13 patients (65%) had gone through menopause, and 16 patients (80%) had a history of breast cancer. Of the five patients (25%) with vasomotor symptoms, four received Chinese medicine, and only one received hormone replacement therapy. Occult cancer was detected in the removed ovaries in two patients (10%), although no postoperative peritoneal carcinogenesis has been observed to date. CONCLUSIONS: Women who paid for risk-reducing salpingo-oophorectomy out of pocket were older than the recommended age at which the procedure should be performed, and this may explain the higher rate of occult cancers than previously reported. We need to perform risk-reducing salpingo-oophorectomy at the recommended age to ensure that the procedure is effective for primary prevention.


Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposición Genética a la Enfermedad , Mutación/genética , Salpingooforectomía , Adulto , Neoplasias de la Mama/genética , Femenino , Heterocigoto , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/genética , Ovario/patología , Estudios Retrospectivos , Factores de Riesgo
17.
Clin J Gastroenterol ; 13(6): 1239-1246, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32643122

RESUMEN

Late-onset acute liver failure due to Wilson's disease (WD-ALF) is rare. A 44-year-old female patient presenting acute hepatic decompensation with extreme coagulopathy was transferred to our hospital for evaluation for liver transplantation (LT). Alveolar hemorrhage and Coombs-negative acute hemolysis occurred during workup. Mechanical ventilation, plasmapheresis, and hemodiafiltration with zinc and chelation were started immediately before placing the patient on the waitlist for deceased donor LT (DDLT), with a tentative diagnosis of WD-ALF using the Leipzig score and quick diagnostic criteria suggested by the Acute Liver Failure Study Group Registry. The peak MELD score was 40, and the revised version of King's score for WD was 13. Serum free copper levels and the patient's overall general condition were stabilized with artificial support systems, although triphasic wave on electroencephalogram and liver atrophy were noted. She successfully underwent emergent DDLT approximately 2 weeks after suffering from acute hemolysis and survived. The genetic tests confirmed mutations at 2 loci in the ATP7B gene and, therefore, the diagnosis of WD. This is the first and oldest patient reported in Japan to present late-onset WD-ALF that was successfully treated with emergent DDLT.


Asunto(s)
Hemodiafiltración , Degeneración Hepatolenticular , Fallo Hepático Agudo , Trasplante de Hígado , Adulto , Femenino , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/terapia , Humanos , Japón , Fallo Hepático Agudo/etiología , Fallo Hepático Agudo/terapia , Donadores Vivos , Plasmaféresis
18.
J Minim Invasive Gynecol ; 27(5): 1087-1094, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31415818

RESUMEN

STUDY OBJECTIVE: To examine the diagnostic accuracy of hysteroscopic photodynamic diagnosis (PDD) using 5-aminolevulinic acid (5ALA) in patients with endometrial cancer and premalignant atypical endometrial hyperplasia. DESIGN: A single-center, open-label, exploratory intervention study. SETTING: University Hospital in Japan. PATIENTS: Thirty-four patients who underwent hysteroscopic resection in the Department of Obstetrics and Gynecology at Keio University Hospital. INTERVENTIONS: Patients were given 5ALA orally approximately 3 hours before surgery and underwent observation of the uterine cavity and endometrial biopsy using 5ALA-PDD during hysteroscopic resection. Specimens were diagnosed histopathologically and the diagnostic sensitivity and specificity of hysteroscopic 5ALA-PDD for malignancy in the uterine cavity was determined. Red (R), blue (B), and green (G) intensity values were determined from PDD images, and the relationships of histopathological diagnosis with these values were used to develop a model for objective diagnosis of uterine malignancy. MEASUREMENTS AND MAIN RESULTS: Three patients were excluded from the study because of failure of the endoscope system. A total of 113 specimens were collected endoscopically. The sensitivity and specificity of 5ALA-PDD for diagnosis of malignancy in the uterine cavity were 93.8% and 51.9%, respectively. The R/B ratio in imaging analysis was highest in malignant lesions, followed by benign lesions and normal uterine tissue, with significant differences among these groups (p <.05). The R/B and G/B ratios were used in a formula for prediction of malignancy based on logistic regression and the area under the receiver operating characteristic curve for this formula was 0.838. At a formula cutoff value of 0.220, the sensitivity and specificity for diagnosis of malignant disease were 90.6% and 65.4%, respectively. CONCLUSION: To our knowledge, this is the first study of the diagnostic accuracy of 5ALA-PDD for malignancies in the uterine cavity. Hysteroscopic 5ALA-PDD had higher sensitivity and identifiability of lesions. These findings suggest that hysteroscopic 5ALA-PDD may be useful for diagnosis of minute lesions.


Asunto(s)
Técnicas de Diagnóstico Obstétrico y Ginecológico , Histeroscopía/métodos , Ácidos Levulínicos , Mediciones Luminiscentes/métodos , Neoplasias Uterinas/diagnóstico , Adulto , Hiperplasia Endometrial/diagnóstico , Hiperplasia Endometrial/metabolismo , Hiperplasia Endometrial/patología , Neoplasias Endometriales/diagnóstico , Neoplasias Endometriales/metabolismo , Endometrio/diagnóstico por imagen , Endometrio/patología , Femenino , Humanos , Japón , Ácidos Levulínicos/química , Ácidos Levulínicos/farmacocinética , Persona de Mediana Edad , Lesiones Precancerosas/diagnóstico , Lesiones Precancerosas/metabolismo , Lesiones Precancerosas/patología , Embarazo , Sensibilidad y Especificidad , Enfermedades Uterinas/diagnóstico , Enfermedades Uterinas/metabolismo , Enfermedades Uterinas/patología , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/patología , Ácido Aminolevulínico
20.
World J Gastroenterol ; 25(15): 1899-1906, 2019 Apr 21.
Artículo en Inglés | MEDLINE | ID: mdl-31057303

RESUMEN

BACKGROUND: Cytomegalovirus (CMV) remains a critical complication after solid-organ transplantation. The CMV antigenemia (AG) test is useful for monitoring CMV infection. Although the AG-positivity rate in CMV gastroenteritis is known to be low at onset, almost all cases become positive during the disease course. We treated a patient with transverse colon perforation due to AG-negative CMV gastroenteritis, following a living donor liver transplantation (LDLT). CASE SUMMARY: The patient was a 52-year-old woman with decompensated liver cirrhosis as a result of autoimmune hepatitis who underwent a blood-type compatible LDLT with her second son as the donor. On day 20 after surgery, upper and lower gastrointestinal endoscopy (GE) revealed multiple gastric ulcers and transverse colon ulcers. The biopsy tissue immunostaining confirmed a diagnosis of CMV gastroenteritis. On day 28 after surgery, an abdominal computed tomography revealed transverse colon perforation, and simple lavage and drainage were performed along with an urgent ileostomy. Although the repeated remission and aggravation of CMV gastroenteritis and acute cellular rejection made the control of immunosuppression difficult, the upper GE eventually revealed an improvement in the gastric ulcers, and the biopsy samples were negative for CMV. The CMV-AG test remained negative, therefore, we had to evaluate the status of the CMV infection on the basis of the clinical symptoms and GE. CONCLUSION: This case report suggests a monitoring method that could be useful for AG-negative CMV gastroenteritis after a solid-organ transplantation.


Asunto(s)
Enfermedades del Colon/diagnóstico , Infecciones por Citomegalovirus/complicaciones , Gastroenteritis/complicaciones , Perforación Intestinal/diagnóstico , Trasplante de Hígado/efectos adversos , Antígenos Virales/sangre , Antígenos Virales/inmunología , Colon/diagnóstico por imagen , Colon/virología , Enfermedades del Colon/etiología , Citomegalovirus/inmunología , Citomegalovirus/aislamiento & purificación , Infecciones por Citomegalovirus/sangre , Infecciones por Citomegalovirus/inmunología , Infecciones por Citomegalovirus/virología , Enfermedad Hepática en Estado Terminal/inmunología , Enfermedad Hepática en Estado Terminal/patología , Enfermedad Hepática en Estado Terminal/cirugía , Endoscopía Gastrointestinal , Femenino , Gastroenteritis/sangre , Gastroenteritis/inmunología , Gastroenteritis/virología , Hepatitis Autoinmune/inmunología , Hepatitis Autoinmune/patología , Hepatitis Autoinmune/cirugía , Humanos , Perforación Intestinal/etiología , Persona de Mediana Edad , Tomografía Computarizada por Rayos X
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