RESUMEN
Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.
Asunto(s)
Predisposición Genética a la Enfermedad , Neoplasias , Humanos , Estudios Retrospectivos , Neoplasias/genética , Mutación de Línea Germinal , Genómica/métodosRESUMEN
Superior mesenteric artery syndrome (SMAS) is a relatively rare disease that involves bowel obstruction symptoms, such as vomiting and gastric distension, owing to the compression of the third portion of the duodenum from the front by the superior mesenteric artery (SMA) and from the rear by the abdominal aorta and the spine. SMAS is diagnosed on the basis of an upper gastrointestinal examination series indicating the obstruction of the third portion of the duodenum or a computed tomography scan indicating the narrowing of the branch angle between the aorta and the SMA (i.e., the aorta-SMA angle). Here, we report the case of a 78-year-old woman diagnosed with SMAS after a laparoscopic right hemicolectomy for cecal cancer, whose condition was improved by enteral nutritional therapy. We used her controlling nutritional status (CONUT) score as a nutrition assessment and noted the changes in the aorta-SMA angle over the course of the disease. This patient appeared to develop SMAS, on the basis of a worsened CONUT score and a decreased aorta-SMA angle, owing to the inflammation resulting from the intraoperative dissection of the tissues around the SMA and prolonged postoperative fasting. After the initiation of enteral nutritional therapy, the patient exhibited body weight gain and an improved aorta-SMA angle and CONUT score. Hence, assessment of the aorta-SMA angle and CONUT score is an important preoperative consideration.
RESUMEN
A 65-year-old woman with a history of constipation presented at our hospital and was subsequently diagnosed with advanced cecum cancer. We performed laparoscopic right hemicolectomy in January 2009, with pathological findings reveal- ing the presence of Stage III b (pT3, pN3, cM0, Cur A) disease. The patient was treated with a uracil/tegafur plus Leucovorin (UFT/LV) adjuvant chemotherapy regimen for six months. In June 2010, bold examination indicated an elevated level of tumor marker CA19-9. Computed tomography (CT) and positron emission tomography (PET)/CT revealed Virchow's and para-aortic lymph node metastasis. Therapy with XELOX and bevacizumab (Bmab) was administered and continued for 10 cycles. Capecitabine+Bmab treatment was also administered for 11 courses due to an adverse event of peripheral neuropathy. Follow-up revealed both the Virchow's and para-aortic lymph node metastasis had disappeared upon completion of treatment. In November, 2011 the patient was considered to have achieved a clinical complete response (CR) and continues to be followed with no further disease progression.