RESUMEN
Metastatic renal cell carcinoma with involvement through the pulmonary veins to the left atrium is very rare. We report the case of a 70-year-old male with metastatic renal cell carcinoma to the right lower lobe of the lung abutting the inferior pulmonary vein with extension to the left atrium without pre-operative evidence. Surgical resection was achieved through a posterolateral thoracotomy. Lung masses that abut the pulmonary veins should prompt further investigation with a pre-operative transoesophageal echocardiogram to minimize unexpected intraoperative findings.
Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Venas Pulmonares , Anciano , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/cirugía , Atrios Cardíacos/diagnóstico por imagen , Atrios Cardíacos/cirugía , Humanos , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Pulmón , Masculino , Venas Pulmonares/diagnóstico por imagen , Venas Pulmonares/cirugíaRESUMEN
OBJECTIVE: To highlight an extremely unusual presentation of an aggressive, rare small bowel malignancy presenting as abdominal myofascial pain syndrome. CASE PRESENTATION: The report is presented from a tertiary pain medicine unit at a university teaching hospital. A female patient presenting with chronic abdominal pain was initially diagnosed as abdominal myofascial pain syndrome. The report details the possible facilitation of the diagnosis of a rare, highly aggressive small bowel tumour by interventional treatment for abdominal myofascial pain syndrome. CONCLUSION: This case highlights a rare and aggressive malignancy of the small intestine presenting clinically as abdominal myofascial pain syndrome.
Asunto(s)
Fibromialgia , Leiomiosarcoma , Síndromes del Dolor Miofascial , Dolor Abdominal/diagnóstico , Dolor Abdominal/etiología , Femenino , Humanos , Intestino Delgado , Leiomiosarcoma/diagnóstico , Síndromes del Dolor Miofascial/diagnósticoRESUMEN
Syphilitic proctitis is a rare presentation of sexually transmitted infection that poses a diagnostic challenge as it mimics rectal cancer clinically, radiologically and endoscopically. We report a case of a 66-year-old male patient with a background of HIV infection presenting with obstructive bowel symptoms and initial diagnosis of rectal cancer on CT. Sigmoidoscopy and histopathology were non-diagnostic. A diagnosis of secondary syphilis was suspected after obtaining sexual history and diagnostic serology, avoiding planned surgical intervention.
Asunto(s)
Infecciones por VIH , Obstrucción Intestinal , Penicilinas/administración & dosificación , Proctitis/diagnóstico , Neoplasias del Recto/diagnóstico , Recto , Treponema pallidum , Anciano , Antibacterianos/administración & dosificación , Diagnóstico Diferencial , Infecciones por VIH/complicaciones , Infecciones por VIH/terapia , Humanos , Obstrucción Intestinal/diagnóstico , Obstrucción Intestinal/etiología , Masculino , Proctitis/etiología , Proctitis/fisiopatología , Proctitis/terapia , Recto/diagnóstico por imagen , Recto/microbiología , Recto/patología , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/terapia , Sigmoidoscopía/métodos , Sífilis/complicaciones , Sífilis/diagnóstico , Sífilis/terapia , Tomografía Computarizada por Rayos X/métodos , Treponema pallidum/inmunología , Treponema pallidum/aislamiento & purificaciónRESUMEN
BACKGROUND: Gastroesophageal adenocarcinoma (GOA) has poor clinical outcomes and lacks reliable blood markers. Here we present circulating tumour DNA (ctDNA) as an emerging biomarker. METHODS: Forty patients (17 palliative and 23 curative) were followed by serial plasma monitoring. Primary tumour DNA was analysed by targeted next-generation sequencing to identify somatic single-nucleotide variants (SNVs), and Nanostring nCounter® to detect copy number alterations (CNAs). Patient-specific SNVs and CNA amplifications (CNAamp) were analysed in plasma using digital droplet PCR and quantitative PCR, respectively. RESULTS: Thirty-five patients (13 palliative, 22 curative) had ≥1 SNVs and/or CNAamp detected in primary tumour DNA suitable for tracking in plasma. Eighteen of 35 patients (nine palliative, nine curative) had ≥1 ctDNA-positive plasma sample. Detection of postoperative ctDNA predicted short RFS (190 vs 934 days, HR = 3.7, p = 0.028) and subsequent relapse (PPV for relapse 0.83). High ctDNA levels (>60.5 copies/ml) at diagnosis of metastatic disease predicted poor OS (90 vs 372 days, HR = 11.7 p < 0.001). CONCLUSION: Sensitive ctDNA detection allows disease monitoring and prediction of short OS in metastatic patients. Presence of ctDNA postoperatively predicts relapse and defines a 'molecular relapse' before overt clinical disease. This lead time defines a potential therapeutic window for additional anticancer therapy.
Asunto(s)
Adenocarcinoma/genética , ADN Tumoral Circulante/sangre , Neoplasias Esofágicas/genética , Recurrencia Local de Neoplasia/genética , Neoplasias Gástricas/genética , Adenocarcinoma/mortalidad , Anciano , Anciano de 80 o más Años , Variaciones en el Número de Copia de ADN , Neoplasias Esofágicas/mortalidad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Estudios Longitudinales , Persona de Mediana Edad , Pronóstico , Neoplasias Gástricas/mortalidadRESUMEN
Gastroduodenal disease (GDD) was initially thought to be uncommon in Africa. Amongst others, lack of access to optimal health infrastructure and suspicion of conventional medicine resulted in the reported prevalence of GDD being significantly lower than that in other areas of the world. Following the increasing availability of flexible upper gastro-intestinal endoscopy, it has now become apparent that GDD, especially peptic ulcer disease (PUD), is prevalent across the continent of Africa. Recognised risk factors for gastric cancer (GCA) include Helicobater pylori (H. pylori), diet, Epstein-Barr virus infection and industrial chemical exposure, while those for PUD are H. pylori, non-steroidal anti-inflammatory drug (NSAID)-use, smoking and alcohol consumption. Of these, H. pylori is generally accepted to be causally related to the development of atrophic gastritis (AG), intestinal metaplasia (IM), PUD and distal GCA. Here, we perform a systematic review of the patterns of GDD across Africa obtained with endoscopy, and complement the analysis with new data obtained on pre-malignant gastric his-topathological lesions in Accra, Ghana which was compared with previous data from Maputo, Mozambique. As there is a general lack of structured cohort studies in Africa, we also considered endoscopy-based hospital or tertiary centre studies of symptomatic individuals. In Africa, there is considerable heterogeneity in the prevalence of PUD with no clear geographical patterns. Furthermore, there are differences in PUD within-country despite universally endemic H. pylori infection. PUD is not uncommon in Africa. Most of the African tertiary-centre studies had higher prevalence of PUD when compared with similar studies in western countries. An additional intriguing observation is a recent, ongoing decline in PUD in some African countries where H. pylori infection is still high. One possible reason for the high, sustained prevalence of PUD may be the significant use of NSAIDs in local or over-the-counter preparations. The prevalence of AG and IM, were similar or modestly higher over rates in western countries but lower than those seen in Asia. . In our new data, sampling of 136 patients in Accra detected evidence of pre-malignant lesions (AG and/or IM) in 20 individuals (14.7%). Likewise, the prevalence of pre-malignant lesions, in a sample of 109 patients from Maputo, were 8.3% AG and 8.3% IM. While H. pylori is endemic in Africa, the observed prevalence for GCA is rather low. However, cancer data is drawn from country cancer registries that are not comprehensive due to considerable variation in the availability of efficient local cancer reporting systems, diagnostic health facilities and expertise. Validation of cases and their source as well as specificity of outcome definitions are not explicit in most studies further contributing to uncertainty about the precise incidence rates of GCA on the continent. We conclude that evidence is still lacking to support (or not) the African enigma theory due to inconsistencies in the data that indicate a particularly low incidence of GDD in African countries.
Asunto(s)
Gastritis Atrófica/epidemiología , Infecciones por Helicobacter/epidemiología , Úlcera Péptica/epidemiología , Neoplasias Gástricas/epidemiología , Endoscopía Gastrointestinal , Mucosa Gástrica/diagnóstico por imagen , Mucosa Gástrica/microbiología , Mucosa Gástrica/patología , Gastritis Atrófica/diagnóstico , Gastritis Atrófica/etiología , Ghana/epidemiología , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/etiología , Helicobacter pylori/aislamiento & purificación , Humanos , Incidencia , Mucosa Intestinal/diagnóstico por imagen , Mucosa Intestinal/microbiología , Mucosa Intestinal/patología , Metaplasia , Úlcera Péptica/diagnóstico , Úlcera Péptica/etiología , Prevalencia , Factores de Riesgo , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/etiologíaRESUMEN
Immune checkpoint inhibitors have become standard of care in metastatic malignant melanoma management. Despite superior effectiveness to chemotherapy, significant immune-related adverse events (irAE) may occur, particularly if used in combination. Gastrointestinal irAEs were reported with different patterns of involvement. Here, we report the case of a patient who had ileal perforation as a complication of terminal ileitis, without colitis, induced by combination immune checkpoint blockade.