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1.
Artículo en Inglés | MEDLINE | ID: mdl-39285515

RESUMEN

BACKGROUND AND AIM: Population-based studies comparing clinical characteristics and survival disparities between patients with small bowel adenocarcinoma (SBA) and small bowel neuroendocrine tumors (SBNETs) in the United States are limited. METHODS: Data for patients with SBA or SBNETs, obtained from the Surveillance, Epidemiology, and End Results database for the years between 2000 and 2018 were analyzed. RESULTS: Between 2000 and 2018, the age-adjusted incidence of SBA experienced a marginal increase whereas SBNETs demonstrated a significant increase, emerging as the predominant subtype of small bowel cancer (SBC). Diagnoses peaked at ages 65-69 years for SBA and 60-64 years for SBNETs, with the latter exhibiting a heightened age-specific incidence and maintaining equilibrium in gender distribution. Clinicopathologic disparities revealed SBA's duodenal predilection, larger tumor size, and advanced stages, contrasting with SBNETs' ileal predilection, early-stage presentation, and superior outcomes. SBNETs patients underwent surgery more frequently but received less chemotherapy and radiation than SBA patients. Factors intricately correlated with a diagnosis of SBNETs included female gender, White race, advanced age, marital status, recent diagnoses, superior tumor differentiation, smaller size, distal location, and early-stage presentation. Survival analysis unveiled a remarkable 79% reduction in the mortality risk for SBNETs compared with SBA. Subgroup analysis further confirmed the consistently favorable survival advantages of SBNETs, highlighting the clinical relevance of histological classification in prognostication. CONCLUSION: Compared with SBA, SBNETs exhibited distinctive clinicopathological features characterized by a higher inclination toward low-grade and early-stage manifestations, thereby contributing to superior survival outcomes.

2.
Case Rep Oncol ; 17(1): 882-890, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39144241

RESUMEN

Introduction: Primary small bowel carcinoma in pregnant women is extremely rare. Small bowel cancer is difficult to diagnose because of its rarity, lack of specific clinical symptoms, and particular anatomical features. We experienced a case of primary small bowel adenocarcinoma with ovarian metastasis during pregnancy. This is the first reported case of a patient with small bowel adenocarcinoma whose pregnancy continued to term and ended in delivery. Case Presentation: A 32-year-old pregnant woman developed abdominal pain, and imaging examination revealed an ovarian tumor at 29 weeks of gestation. We performed laparotomy and resected the ovarian tumor, which was initially suspected to be primary ovarian cancer. The patient continued the pregnancy to term. A detailed examination of the abdominal cavity during cesarean delivery at 37 weeks revealed that the primary lesion was located in the small bowel. Conclusion: It is important to recognize that the small bowel may be the primary site of metastatic ovarian cancer. Detailed and careful examination is necessary to diagnose small bowel cancer during pregnancy.

3.
Cureus ; 16(6): e63207, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39070369

RESUMEN

Urothelial cell carcinoma (UCC) is a type of malignant cancer that affects thousands of people worldwide, especially those who smoke and have certain occupational exposures. Plasmacytoid urothelial carcinoma (PUC) is a rare histological variant of UCC that can present aggressively and insidiously. Small bowel obstruction secondary to malignancy is a rare presentation of UCC because the small bowel is a rare site of metastasis. We showcase a patient who presented with small bowel obstruction secondary to high-grade metastatic UCC with plasmacytoid features, exhibiting minimal urologic symptoms and no apparent risk factors. This case highlights the importance of high clinical suspicion for patients with possible malignancies that present with limited or unusual symptomatology and no risk factors. Further research into PUC to understand its symptoms and metastatic pattern is warranted to advance current early diagnostic criteria and further improve patient outcomes.

4.
J Robot Surg ; 18(1): 172, 2024 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-38613728

RESUMEN

The purpose of this research was to investigate the potential predictive value of preoperative systemic inflammatory indexes in identifying lymph node metastasis among patients diagnosed with small bowel cancer. A retrospective analysis of clinical data was conducted on small bowel cancer patients who underwent surgical treatment at the gastrointestinal surgery department of our hospital between January 2010 and June 2021. Patients were divided into groups based on the presence or absence of lymph node metastasis as confirmed by postoperative pathological results. The study compared the differences in preoperative inflammatory indexes and clinical data between the two groups using single factor analysis and multifactorial Logistic regression analysis. Furthermore, a nomogram model for predicting lymph node metastasis in colorectal cancer was constructed using R software and internally validated. The study sample consisted of 140 small bowel cancer patients,postoperative pathology confirmed lymph node metastasis in 72 cases. Univariate analysis results indicated associations between preoperative inflammatory indexes and clinical data with lymph node metastasis in small bowel cancer. Multifactorial logistic regression analysis revealed that gender, PLR, number of lymph node dissection, and lymphovascular invasion independently influenced lymph node metastasis in small bowel cancer patients. The developed nomogram model demonstrated a C-index of 0.855 (95% CI 0.792-0.917), with a calibrated prediction curve closely resembling the ideal curve. An elevated PLR is an independent risk factor for LNM in patients with small bowel cancer.


Asunto(s)
Neoplasias Colorrectales , Procedimientos Quirúrgicos Robotizados , Humanos , Metástasis Linfática , Estudios Retrospectivos , Procedimientos Quirúrgicos Robotizados/métodos , Linfocitos
5.
Cureus ; 16(2): e54202, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38496115

RESUMEN

Small bowel malignancies are relatively rare, accounting for only 3% of all gastrointestinal cancers. Duodenum is the most common location among small bowel cancers, followed by Jejunum and then Ileum. Duodenal adenocarcinoma produces vague symptoms, leading to late presentation and a poor prognosis compared to similarly staged colon cancer. It is rare to have brain metastasis in duodenal adenocarcinoma, and not many case reports have been reported. Only approximately 6% of patients with gastrointestinal malignancy have brain metastasis. Here, we present a case of a 64-year-old female patient diagnosed initially with stage IV duodenal adenocarcinoma presenting with duodenal mass, abdominal lymphadenopathy, and liver metastasis. She had excellent systemic control for over two years with systemic chemotherapy, with a close to complete response on follow-up imaging. She presented with a 2 cm left frontal mass biopsy consistent with duodenal adenocarcinoma metastasis. She underwent resection of the left frontal tumor and gamma knife to the resection cavity. She continues to have good systemic control of disease. This case highlights the rare possibility of brain metastasis with duodenal adenocarcinoma, especially in patients who have good systemic control with chemotherapy.

6.
Hematol Oncol Clin North Am ; 38(3): 693-710, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38431494

RESUMEN

Upper gastrointestinal cancers are among the leading causes of cancer deaths worldwide with exceptionally poor prognosis, which is largely attributable to frequently delayed diagnosis. Although effective screening is critical for early detection, the highly variable incidence of upper gastrointestinal cancers presents challenges, rendering universal screening programs suboptimal in most populations globally. Optimal strategies in regions of modest incidence, such as the United States, require a targeted approach, focused on high-risk individuals based on demographic, familial, and clinicopathologic risk factors. Assessment of underlying precancerous lesions has key implications for risk stratification and informing clinical decisions to improve patient outcomes.


Asunto(s)
Detección Precoz del Cáncer , Neoplasias Gastrointestinales , Humanos , Detección Precoz del Cáncer/métodos , Neoplasias Gastrointestinales/diagnóstico , Neoplasias Gastrointestinales/terapia , Factores de Riesgo , Tamizaje Masivo/métodos , Incidencia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/terapia
7.
Naunyn Schmiedebergs Arch Pharmacol ; 397(7): 4601-4614, 2024 07.
Artículo en Inglés | MEDLINE | ID: mdl-38329524

RESUMEN

Small bowel cancer (SBC) is a rare and aggressive disease with a poor prognosis, necessitating the exploration of novel treatment approaches. This narrative review examines the current evidence on targeted therapy and immunotherapy for SBC, focusing on the two most common subtypes: adenocarcinoma and neuroendocrine tumor. A comprehensive search of PubMed, Scopus, and Google Scholar databases was conducted to identify relevant clinical trials and case reports published in English up to September 2023. The review includes 17 clinical trials and 10 case reports, indicating that targeted therapy and immunotherapy can have the potential to improve survival rates in patients with SBC. Notably, promising targeted medicines include bevacizumab, cetuximab, and trastuzumab, while pembrolizumab and nivolumab show potential as immunotherapies. However, it should be noted that the magnitude of the increase in survival rates with these interventions was small. Further research is needed to determine the optimal combination of targeted therapy and immunotherapy for individual patients with SBC.


Asunto(s)
Inmunoterapia , Neoplasias Intestinales , Terapia Molecular Dirigida , Humanos , Inmunoterapia/métodos , Neoplasias Intestinales/terapia , Neoplasias Intestinales/inmunología , Neoplasias Intestinales/tratamiento farmacológico , Adenocarcinoma/terapia , Adenocarcinoma/inmunología , Adenocarcinoma/tratamiento farmacológico , Adenocarcinoma/patología , Intestino Delgado/inmunología , Intestino Delgado/patología , Tumores Neuroendocrinos/terapia , Tumores Neuroendocrinos/inmunología , Tumores Neuroendocrinos/tratamiento farmacológico
8.
Clin Colon Rectal Surg ; 37(1): 46-52, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38188070

RESUMEN

Small bowel carcinomas are rare in the general population, but the incidence is increasing. Patients with inflammatory bowel diseases (IBDs) are at significantly higher risk of small bowel adenocarcinomas than their non-IBD counterparts, with Crohn's patients having at least a 12-fold increased risk and ulcerative colitis patients with a more controversial and modest 2-fold increased risk compared with the general population. IBD patients with small bowel carcinomas present with nonspecific symptoms that overlap with typical IBD symptoms, and this results in difficulty making a preoperative diagnosis. Cross-sectional imaging is rarely diagnostic, and most cancers are found incidentally at the time of surgery performed for an IBD indication. As such, most small bowel carcinomas are found at advanced stages and carry a poor prognosis. Oncologic surgical resection is the treatment of choice for patients with locoregional disease with little evidence available to guide adjuvant therapy. Patients with metastatic disease are treated with systemic chemotherapy, and surgery is reserved for palliation in this population. Prognosis is poor with few long-term survivors reported.

9.
Intern Med ; 63(8): 1075-1079, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-37558482

RESUMEN

Familial adenomatous polyposis (FAP) is caused by pathogenic variants of the APC gene on the long arm of chromosome 5. An analysis showed an association between germline APC gene variants and clinical signs of FAP; however, attenuated FAP has also been reported in cases with pathogenic variants. In contrast, a phenotype of FAP with no APC germline pathogenic variant and with few signs has been reported. We herein report a 16-year-old girl in whom the presence of multiple large bowel cancers from a young age and several small bowel cancers reflected a carcinogenic tendency higher than that typical for FAP.


Asunto(s)
Poliposis Adenomatosa del Colon , Neoplasias Duodenales , Femenino , Humanos , Adolescente , Poliposis Adenomatosa del Colon/genética , Genes APC , Mutación de Línea Germinal/genética , Fenotipo
10.
Immunol Med ; 47(1): 1-5, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37293784

RESUMEN

Small bowel adenocarcinoma (SBA) is a rare tumor with an unfavorable prognosis, and due to its rarity, few studies on its treatment are available. Chemotherapy remains the standard of treatment in advanced disease. Recently immunotherapy has demonstrated to be a valid therapeutic option for many solid tumors. We reviewed the data published in literature to understand the impact of immunotherapy in this cancer.


Asunto(s)
Adenocarcinoma , Neoplasias Duodenales , Neoplasias del Íleon , Neoplasias del Yeyuno , Humanos , Intestino Delgado/patología , Neoplasias del Yeyuno/tratamiento farmacológico , Neoplasias del Yeyuno/patología , Neoplasias del Íleon/tratamiento farmacológico , Neoplasias del Íleon/patología , Neoplasias Duodenales/patología , Neoplasias Duodenales/terapia , Adenocarcinoma/tratamiento farmacológico , Adenocarcinoma/patología , Inmunoterapia
11.
BMC Med Genomics ; 16(1): 289, 2023 11 16.
Artículo en Inglés | MEDLINE | ID: mdl-37974218

RESUMEN

BACKGROUND: Small bowel cancer (SBC) is a very rare solid malignancy. Consequently, compared with other malignant gastrointestinal tumors, our knowledge regarding SBC, specifically its molecular attributes, remains limited. Herein, we aim to provide an overview of the gene characteristics of Chinese patients with SBC, We particularly focus on elucidating the genetic intricacies that differentiate SBC patients whose primary tumors originate in distinct anatomical regions within the small bowel. METHODS: During the period ranging from February 2018 to December 2022, a total of 298 tumor samples were consecutively collected from Chinese patients diagnosed with small bowel cancer.. Next-generation sequencing (NGS) was performed to detect gene mutation, assess microsatellite instability (MSI), and evaluate tumor mutational burden (TMB). Additionally,, IHC was used to analyze the level of PD-L1 expression within the samples. RESULTS: The outcomes of the next-generation sequencing (NGS) unveiled the predominant gene mutations observed in Chinese patients with small bowel cancer (SBC). The top ten gene mutations identified were as follows: TP53 (53%), KRAS (51%), APC (31%), SMAD4 (19%), VEGFA (15%), CDKN2A (15%), RAC1 (15%), LRP1B (14%), MGMT (14%, CD74 (13%). Subsequent analysis revealed disparities in the gene landscape between the cohort in this study and that of the Memorial Sloan Kettering Cancer Center (MSKCC), Notably, distinguishable mutational frequencies were identified in several genes, including ERBB2, FBXW7, PIK3CA, etc. which exhibited contrasting presence in both this cohort and the MSKCC cohort.. Furthermore, we noticed variations in the frequency of gene mutations among SBC patients depending on the specific anatomical site where the tumors originated within the small bowel. In addition, the distribution of patients with high microsatellite instability (MSI-H) and tumor mutational burden (TMB) levels varied among SBC patients with tumors originating from the duodenum, jejunum, and ileum. CONCLUSION: Chinese patients with small bowel cancer exhibited a distinct genetic profile in comparison to other populations, highlighting a unique genetic landscape. Furthermore, noticeable disparities in the genetic landscape were observed between patients with cancer situated in the duodenum and those with cancer affecting other regions of the small bowel, this suggests that these patients should be treated differently.


Asunto(s)
Neoplasias Colorrectales , Inestabilidad de Microsatélites , Humanos , Pueblos del Este de Asia , Perfil Genético , Mutación , Biomarcadores de Tumor/genética , Neoplasias Colorrectales/genética
12.
Surg Case Rep ; 9(1): 145, 2023 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-37589759

RESUMEN

BACKGROUND: Small bowel cancer (SBC) is a rare malignancy that is often diagnosed at an advanced stage. Palliative chemotherapy is the standard treatment for patients with metastatic SBC. The relevant literature on conversion surgery in patients who have responded favorably to chemotherapy is limited. CASE PRESENTATION: A 64-year-old man was diagnosed with jejunal carcinoma with multiple peritoneal metastases. After implanting an expandable metallic stent at the primary site, the patient underwent 6 months of FOLFOX therapy, resulting in a clinical complete response. Chemotherapy was continued, and four years after the initiation of therapy, the patient showed no evidence of disease progression. Nevertheless, anemia of continuous minor hemorrhages from the stent site and general malaise of chemotherapy got progressively worse during treatment. After confirming negative ascites cytology and the absence of peritoneal metastasis via staging laparoscopy, the patient underwent partial jejunectomy. Pathologically, no residual tumor was detected in the resected specimen. The postoperative course was uneventful, and the patient remained free of recurrence for 30 months after surgery without chemotherapy. CONCLUSION: Although infrequent, conversion surgery may be a valid therapeutic option for selected cases of SBC with peritoneal metastasis.

13.
Pleura Peritoneum ; 7(4): 159-167, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36560970

RESUMEN

Objectives: Small bowel adenocarcinoma (SBA) with peritoneal metastasis (PM) is rare and despite treatment with systemic chemotherapy, the prognosis is poor. However, there is emerging evidence that cytoreductive surgery (CRS) with hyperthermic intraperitoneal chemotherapy (HIPEC) may offer a survival benefit over systemic therapy alone. This systematic review will assess the effectiveness of CRS-HIPEC for SBA-PM. Content: Three databases were searched from inception to 11/10/21. Clinical outcomes were extracted and analysed. Summary: A total of 164 cases of SBA-PM undergoing CRS-HIPEC were identified in 12 studies. The majority of patients had neoadjuvant chemotherapy (87/164, 53%) and complete cytoreduction (143/164, 87%) prior to HIPEC. The median overall survival was 9-32 months and 5-year survival ranged from 25 to 40%. Clavien-Dindo grade III/IV morbidity ranged between 19.1 and 50%, while overall mortality was low with only 3 treatment-related deaths. Outlook: CRS-HIPEC has the potential to improve the overall survival in a highly selected group of SBA-PM patients, with 5-year survival rates comparable to those reported in colorectal peritoneal metastases. However, the expected survival benefits need to be balanced against the intrinsic risk of morbidity and mortality associated with the procedure. Further multicentre studies are required to assess the safety and feasibility of CRS-HIPEC in SBA-PM to guide best practice management for this rare disease.

14.
Rev. argent. cir ; 114(1): 63-66, mar. 2022. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1376378

RESUMEN

RESUMEN En una minoría de pacientes con ileítis de Crohn (EC) de larga evolución, la recrudescencia de los síntomas puede representar una neoplasia ileal, con una clínica indistinguible de la enfermedad basal y por ende poco sospechada. Frecuentemente la patología tumoral se diagnostica en la pieza quirúrgica, tras una intervención por hemorragia u obstrucción intestinal. El objetivo de este trabajo es destacar la importancia de un diagnóstico diferencial ante una ileítis terminal en un paciente con EC con mala respuesta a tratamiento médico.


ABSTRACT In a minority of patients with long-standing Crohn's ileitis, the recrudescence of symptoms may represent a neoplasm involving the ileum that is clinically indistinguishable from the baseline disease and therefore poorly suspected. Tumors are often diagnosed in the surgical specimen, after an intervention due to bleeding or bowel obstruction. The aim of this study is to emphasize the importance of the differential diagnoses of terminal ileitis in a patient with CD with poor response to medical treatment.

15.
Anticancer Res ; 41(10): 5147-5155, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34593466

RESUMEN

BACKGROUND/AIM: Metastatic small bowel adenocarcinoma (SBA) is a rare disease with poor prognosis. This study aimed to explore the efficacy and safety of second-line chemotherapy for patients with SBA. PATIENTS AND METHODS: We retrospectively reviewed the clinical characteristics of 27 metastatic patients with SBA after progression on first-line chemotherapy. The patients were divided into Cohort A, receiving second-line chemotherapy, and Cohort B, receiving best supportive care. RESULTS: Patients in Cohort B had higher age, worse performance status, and higher neutrophil-to-lymphocyte ratio compared with those in Cohort A. Cohort A showed significantly better overall survival (OS) compared with Cohort B (median OS, 15.6 vs. 3.4 months; p=0.002). Objective response rate, disease control rate, and median progression-free survival (PFS) for Cohort A were 7%, 74%, and 5.0 months, respectively. Patients who underwent irinotecan-based chemotherapy showed longer PFS and OS compared with those who underwent taxane-based chemotherapy. No significant adverse events were reported. CONCLUSION: Second-line chemotherapy for metastatic SBA demonstrated clinical activity with acceptable toxicities.


Asunto(s)
Adenocarcinoma/mortalidad , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Intestinales/mortalidad , Intestino Delgado/patología , Adenocarcinoma/tratamiento farmacológico , Adenocarcinoma/secundario , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Neoplasias Intestinales/tratamiento farmacológico , Neoplasias Intestinales/patología , Intestino Delgado/efectos de los fármacos , Irinotecán/administración & dosificación , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia , Taxoides/administración & dosificación
16.
World J Gastrointest Oncol ; 13(9): 1017-1028, 2021 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-34616509

RESUMEN

Celiac disease (CD) is a chronic immune-mediated intestinal disease with genetic susceptibility. It is characterized by inflammatory damage to the small intestine after ingestion of cereals and products containing gluten protein. In recent years, the global prevalence rate of CD has been approximately 1%, and is gradually increasing. CD patients adhere to a gluten-free diet (GFD) throughout their entire life. However, it is difficult to adhere strictly to a GFD. Untreated CD may be accompanied by gastrointestinal symptoms, such as diarrhea, abdominal pain, and extraintestinal symptoms caused by secondary malnutrition. Many studies have suggested that CD is associated with intestinal tumors such as enteropathy-associated T-cell lymphoma (EATL), small bowel cancer (SBC), and colorectal cancer. In this study, we reviewed related studies published in the literature to provide a reference for the prevention and treatment of intestinal tumors in patients with CD. Compared with the general population, CD patients had a high total risk of SBC and EATL, but not colorectal cancer. The protective effect of GFD on CD-related malignancies is controversial. Further studies are needed to confirm whether GFD treatment can reduce the risk of intestinal neoplasms in CD.

17.
Arab J Gastroenterol ; 22(3): 240-245, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34531134

RESUMEN

Small bowel adenocarcinomas (SBAs) are rare tumors of the gastrointestinal tract. Patients often present with advanced disease due to nonspecific symptoms and delayed diagnoses. In combination with non-uniform treatment paradigms, patients who present with SBA often have poor prognoses. In this case series, we present four cases of SBA and review the most recent literature with regard to diagnosis and management. One patient presented with iron-deficient anemia (IDA), and three patients presented with clinical obstruction. The patient with IDA was subjected to protracted investigations, whereas the three patients with obstruction were diagnosed quickly after presentation. All four patients underwent surgical resection, and one patient was eligible for post-operative adjuvant chemotherapy. SBA should be highly suspected in patients who present with occult gastrointestinal bleeds, and appropriate investigations must be initiated. Following diagnosis, surgical resection is the mainstay of treatment for this disease. Our review supports the use of both neoadjuvant and adjuvant chemotherapy in localized disease.


Asunto(s)
Adenocarcinoma , Neoplasias Duodenales , Adenocarcinoma/diagnóstico , Adenocarcinoma/terapia , Quimioterapia Adyuvante , Hemorragia Gastrointestinal , Humanos , Periodo Posoperatorio
18.
J Gastrointest Oncol ; 12(4): 1939-1943, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34532140

RESUMEN

Duodenal adenocarcinoma (DA) is a subtype of small bowel adenocarcinoma (SBA). Compared with gastrointestinal cancers such as colorectal cancer and gastric cancer, SBA is less common. For patients with advanced and metastatic DA, chemotherapies are usually extrapolated from colorectal cancer and gastric cancer but the therapeutic effects remain undefined. Herein, we reported a 50-year-old female patient whom was diagnosed as stage IV DA with metastasis to both lungs and retroperitoneal lymph nodes. The next generation sequencing (NGS) using a panel consisting of 168 cancer related genes revealed amplification of the HER2/ERBB2 gene which has been a well-recognized therapeutic target among various tumor types. The anti-HER2 targeted therapy trastuzumab was used in combination with XELOX (oxaliplatin and capecitabine) as the first line treatment. The patient achieved partial response (PR) and had progression-free survival (PFS) of six months. After progressive disease (PD), the patient started the second line treatment with trastuzumab and PD1 inhibitors and remained stable disease (SD) with PFS for three months. The use of trastuzumab in neoadjuvant and adjuvant settings have been reported in sporadic cases. To the best of our knowledge, it is the first report to use anti-HER2 therapy and PD-1 inhibition as systemic therapy for advanced DA patients.

19.
Int J Cancer ; 149(12): 2052-2062, 2021 12 15.
Artículo en Inglés | MEDLINE | ID: mdl-34331771

RESUMEN

Small bowel cancer (SBC) is the malignancy with the highest standardized incidence ratio in Lynch syndrome (LS) patients. Of all SBCs, about 50% are duodenal cancers (DCs), therefore being accessible by esophago-gastro-duodenoscopy (EGD) for surveillance. We asked whether early detection of DC is possible for LS patients undergoing surveillance by EGD and if surveillance should be limited to specific subgroups. Data for LS patients with DC were retrieved from the registry of the German Consortium for Familial Intestinal Cancer. Patients undergoing active surveillance by EGDs (surveillance group) were compared to those who did not (nonsurveillance group) regarding tumor stage at diagnosis. Union for International Cancer Control stages I-IIA were defined as early stage disease and IIB-IV as advanced stage disease. Statistical analysis was performed using Fisher's exact test. Among 2015 patients with pathogenic variants in any mismatch-repair-gene, 47 patients with 49 DCs were identified. In 10% of cases, patients were under 35 years at diagnosis; family and personal tumor history did not correlate with DC diagnosis. Pathogenic germline variants in MSH6, PMS2 or EPCAM were present in 10% of patients. Statistical analysis could be performed on 13 DC patients in the surveillance group and 14 in the nonsurveillance group. Early detection was possible for 71% of patients in the surveillance group and 29% of patients in the nonsurveillance group (P = .021). Early detection of DC by EGD in LS patients is feasible regardless of family history, mutational status and should start no later than 25 years of age.


Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/complicaciones , Neoplasias Duodenales/diagnóstico , Duodenoscopía/estadística & datos numéricos , Detección Precoz del Cáncer/métodos , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Reparación de la Incompatibilidad de ADN , Análisis Mutacional de ADN/estadística & datos numéricos , Proteínas de Unión al ADN/genética , Neoplasias Duodenales/genética , Duodenoscopía/normas , Molécula de Adhesión Celular Epitelial/genética , Estudios de Factibilidad , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Anamnesis , Persona de Mediana Edad , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética , Estadificación de Neoplasias , Guías de Práctica Clínica como Asunto , Estudios Prospectivos , Sistema de Registros/estadística & datos numéricos , Factores de Tiempo , Adulto Joven
20.
Cancers (Basel) ; 13(3)2021 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-33540674

RESUMEN

Crohn's disease (CD) is a chronic inflammatory bowel disease with a progressive course, potentially affecting the entire gastrointestinal tract from mouth to anus. Several studies have shown an increased risk of both intestinal and extra-intestinal cancer in patients with CD, due to long-standing transmural inflammation and damage accumulation. The similarity of symptoms among CD, its related complications and the de novo onset of gastrointestinal cancer raises difficulties in the differential diagnosis. In addition, once a cancer diagnosis in CD patients is made, selecting the appropriate treatment can be particularly challenging. Indeed, both surgical and oncological treatments are not always the same as that of the general population, due to the inflammatory context of the gastrointestinal tract and the potential exacerbation of gastrointestinal symptoms of patients with CD; moreover, the overlap of the neoplastic disease could lead to adjustments in the pharmacological treatment of the underlying CD, especially with regard to immunosuppressive drugs. For these reasons, a case-by-case analysis in a multidisciplinary approach is often appropriate for the best diagnostic and therapeutic evaluation of patients with CD after gastrointestinal cancer onset.

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