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BACKGROUND: Neoadjuvant chemoradiation therapy (NCRT) followed by surgery is the standard treatment for locally advanced rectal cancer (LARC); approximately 80% of patients do not achieve complete response. Identifying prognostic factors predictive of survival in these patients to guide further management is needed. The intratumoural lymphocytic response (ILR), peritumoural lymphocytic reaction (PLR), neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PtLR) are correlated with the tumour microenvironment and cancer-related systemic inflammation. This study aimed to explore the ability of the ILR, PLR, NLR, and PtLR to predict survival in LARC patients without a complete response to NCRT. METHODS: Sixty-nine patients who underwent NCRT and surgery were retrospectively reviewed. The ILR and PLR were assessed in surgical specimens, and the NLR and PtLR were calculated using pre- and post-NCRT blood count data. The Kaplan-Meier method and Cox regression analyses were performed for survival analysis. RESULTS: A high PLR and high post-NCRT NLR and PtLR were significantly associated with better prognosis. Lymphovascular invasion (LVI), post-NCRT neutrophil count, and lymphocyte count were significant predictors of overall survival. LVI and the PLR were independent predictors of disease-free survival. CONCLUSIONS: NCRT-induced local and systemic immune responses are favourable prognostic predictors in LARC patients without complete response to NCRT.
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Syphilitic pancolitis is a rare clinical presentation of the spirochete Treponema pallidum; it can be misdiagnosed as inflammatory bowel disease. We report a case of symptomatic syphilitic pancolitis presenting with changes in bowel habit and typical risk factors. We also review previous case reports of syphilitic colitis.
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Colitis , Sífilis , Colitis/diagnóstico , Colitis/tratamiento farmacológico , Humanos , Sífilis/diagnóstico , Sífilis/tratamiento farmacológico , Treponema pallidumRESUMEN
RATIONALE: Infantile inflammatory bowel disease (IBD) is an extremely rare subgroup of IBD that includes patients whose age of onset is younger than 2 years old. These patients can have more surgical interventions, and a severe and refractory disease course with higher rates of conventional treatment failure. Monogenic defects play an important role in this subgroup of IBD, and identification of the underlying defect can guide the therapeutic approach. PATIENT CONCERNS: In 2007, a 4-month-old girl from a nonconsanguineous family presenting with anal fistula, chronic diarrhea, and failure to thrive. She underwent multiple surgical repairs but continued to have persistent colitis and perianal fistulas. DIAGNOSIS: Crohn's disease was confirmed by endoscopic and histologic finding. INTERVENTION: Conventional pediatric IBD therapy including multiple surgical interventions and antitumor necrosis factor alpha agents were applied. OUTCOMES: The patient did not respond to conventional pediatric IBD therapy. Interleukin-10 (IL-10) receptor mutation was discovered by whole-exome sequencing and defective IL-10 signaling was proved by functional test of IL-10 signaling pathway by the age of 12. The patient is currently awaiting hematopoietic stem cell transplantation. LESSONS: Early detection of underlying genetic causes of patients with infantile-IBD is crucial, since it may prevent patients from undergoing unnecessary surgeries and adverse effects from ineffective medical therapies. Moreover, infantile-IBD patients with complex perianal disease, intractable early onset enterocolitis and extraintestinal manifestations including oral ulcers and skin folliculitis, should undergo genetic and functional testing for IL-10 pathway defect.
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Enfermedad de Crohn/diagnóstico , Diarrea/genética , Insuficiencia de Crecimiento/genética , Subunidad alfa del Receptor de Interleucina-10/genética , Fístula Rectal/genética , Niño , Preescolar , Colectomía , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/genética , Enfermedad de Crohn/terapia , Diagnóstico Tardío , Diarrea/terapia , Diagnóstico Precoz , Insuficiencia de Crecimiento/terapia , Femenino , Estudios de Seguimiento , Pruebas Genéticas , Trasplante de Células Madre Hematopoyéticas , Humanos , Inmunosupresores/administración & dosificación , Interleucina-10/metabolismo , Subunidad alfa del Receptor de Interleucina-10/metabolismo , Mutación Missense , Fístula Rectal/terapia , Transducción de Señal/efectos de los fármacos , Transducción de Señal/genética , Transducción de Señal/inmunología , Insuficiencia del Tratamiento , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Secuenciación del ExomaAsunto(s)
Antineoplásicos/uso terapéutico , Carcinoma Hepatocelular/terapia , Duodeno/lesiones , Perforación Intestinal/complicaciones , Neoplasias Hepáticas/terapia , Radioterapia , Neoplasias Retroperitoneales/secundario , Neoplasias Retroperitoneales/terapia , Sorafenib/uso terapéutico , Anciano , Antineoplásicos/efectos adversos , Carcinoma Hepatocelular/patología , Terapia Combinada , Humanos , Neoplasias Hepáticas/patología , Ganglios Linfáticos , Metástasis Linfática , Neoplasias Retroperitoneales/patología , Espacio Retroperitoneal/diagnóstico por imagen , Sorafenib/efectos adversos , Tomografía Computarizada por Rayos XRESUMEN
A subtype of intestinal-type adenocarcinoma of the stomach, characterized by low-grade cytological atypia and anastomosing glands, has been described in several reports under different names. One of the remarkable features of these lesions, herein referred to as intestinal-type adenocarcinoma with anastomosing glands, is the frequent association of poorly differentiated adenocarcinoma components. Here we analyzed 44 intestinal-type adenocarcinomas with anastomosing glands focusing on the molecular abnormalities that are common in diffuse-type gastric cancers. Next-generation sequencing identified RHOA and CDH1 mutations in 22 (50%) and one lesion (2%), respectively. Reverse transcription-PCR detected CLDN18-ARHGAP fusions in three lesions (7%). Immunohistochemically, none of the lesions showed abnormal p53 expression patterns whereas focal and diffuse loss of ARID1A was observed in four and one lesion, respectively. Examination of 37 lesions of dysplasia and 26 usual-type intramucosal adenocarcinomas identified one RHOA mutation in adenocarcinoma and no CLDN18-ARHGAP fusions, indicating that these genetic alterations are highly specific to intestinal-type adenocarcinomas with anastomosing glands among differentiated-type intramucosal neoplasms. The present study showed that intestinal-type adenocarcinoma with anastomosing glands represents a genetically distinct group of tumors with the frequent presence of RHOA mutations and CLDN18-ARHGAP fusions, which are thought to be specific to diffuse-type gastric cancers.
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Adenocarcinoma/genética , Claudinas/genética , Proteínas Activadoras de GTPasa/genética , Neoplasias Gástricas/genética , Proteína de Unión al GTP rhoA/genética , Adenocarcinoma/patología , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Proteínas de Fusión Oncogénica/genética , Neoplasias Gástricas/patologíaRESUMEN
BACKGROUND: Genital basal cell carcinoma (BCC) accounts for <1% of all BCCs. We aimed to elucidate the pathogenesis of genital BCC. METHODS: We retrospectively evaluated cases of pathologically diagnosed genital BCC between 1990 and 2016 in an Asian tertiary referral center. The control group was composed of consecutive cases, from 2016, of BCCs occurring in sun-exposed areas. Presence of human papillomavirus (HPV) was evaluated by polymerase chain reaction (PCR). Immunohistochemical p16 and p53 staining was performed and analyzed. RESULTS: We found 33 genital BCCs (33/1837, 1.8%) over 26 years. The mean follow-up duration was 30.0 ± 33.2 months. Genital BCCs had a larger size (14.05 vs 8.92 mm, P = 0.014), more common presence of ulcers (61.3% vs 32.0%, P = 0.035), shorter epidermal p53 clone (0.33 vs 1.20 mm, P = 0.007), and high p53 expression levels. Most cases (29/30, 96.7%) showed negative or faint spotty p16 staining. Patient age, tumor depth, presence of pigment, or histology subtype did not differ significantly. Thirty genital BCCs were negative for HPV. CONCLUSIONS: HPV infection is mostly likely not involved in genital BCC pathogenesis. A greater level of p53 expression in genital BCCs implicates pathways other than ultraviolet (UV)-specific p53 mutations in their pathogenesis.
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OBJECTIVE: To demonstrate a case with a vulvar metastasis masquerading a primary vulvar malignancy. The clinical and histological features, mechanism, and impact to the prognosis are discussed. CASE REPORT: A 58-year-old woman presented to gynecologist for abnormal vaginal discharge. A vulvar nodule was noticed during physical examination. Biopsy showed adenocarcinoma (ADC) and she was referred for further survey under the impression of Bartholin duct ADC. Later she was further found to also have a colorectal tumor with liver metastasis and subsequently received surgery under the suspicion of a double primary cancer involving the colon and vulva. The pathology revealed colorectal ADC with both hepatic and vulvar metastasis. CONCLUSION: Secondary tumor in female genital tract is unusual and vulvar metastasis is the rarest kind. The clinical manifestation may be perplexing especially if a patient is presented with a nonspecific gynecological symptom such as abnormal vaginal discharge without any past history.