Case Reports in Gastroenterology最新文献

Cowden syndrome is characterized by several clinical features related to tumorous lesions primarily consisting of systemic hamartomas. The mutation of a tumor suppressor gene, the PTEN gene, is etiologically involved. As gastrointestinal lesions, polyps of all digestive tracts involving the esophagus to rectum develop. In patients with Cowden syndrome, the risk of colorectal cancer may increase. However, the characteristics of colorectal cancer in these patients remain to be clarified and sufficient findings regarding chemotherapy have not been obtained. A 39-year-old man was treated with a colonic stent for colitis obstructive due to circumferential transverse colon carcinoma. After decompression, elective extended laparoscopic right hemicolectomy was performed. Preoperative systemic detailed examination revealed characteristic dermal/mucosal findings, polyposis of the upper digestive tract, and a thyroid tumor. On PTEN gene sequencing, a mutation was detected at codon 130 of exon 5, leading to a diagnosis of Cowden syndrome. Postoperative adjuvant chemotherapy was performed for 6 months, but recurrent peritoneal dissemination was observed 1 month after its completion. FOLFOXIRI + bevacizumab therapy was started. Transiently, a partial response was achieved in peritoneally disseminated nodes according to the RECIST. There was no increase in the volume of cancerous ascites. However, an increase in the volume of ascites and local relapse were noted at the completion of the tenth course. The regimen was switched to FOLFIRI + panitumumab, but peritoneal dissemination exacerbated and the patient died 18 months after surgery.

When the etiology of pancreatitis cannot be determined despite sufficient investigation, recurrence and progression to chronic pancreatitis often involve genetic mutations. Herein, we describe a case of recurrent pancreatitis with the IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene that progressed to chronic pancreatitis in only 3 years. A 35-year-old man was referred to our hospital, where he was diagnosed with mild pancreatitis and was treated conservatively. However, the patient experienced recurrent episodes of pancreatitis, which progressed to become chronic pancreatitis with a pancreatic calcification 1 year later. After 3 years, the patient developed pancreatic duct stenosis and required a pancreatic duct stent placement. Regarding the cause of chronic pancreatitis, alcohol abuse was ruled out based on history taking. Considering the course of treatment, autoimmune pancreatitis and obstructive pancreatitis, such as pancreatic divisum, were also ruled out. Finally, a germline genetic test was performed to determine the etiology of pancreatitis, which revealed the IVS3+2T>C mutation in SPINK1. This case shows the importance of genetic testing in patients with idiopathic pancreatitis to determine their etiology and is a rare incident that can report the progression of the disease from acute to chronic pancreatitis.

Tyrosine kinase inhibitors (TKIs) such as imatinib improve the prognosis of patients with gastrointestinal stromal tumors (GISTs). However, treatment options for GISTs are still limited, and the continuation of TKIs is difficult due to adverse events in some cases. The effectiveness of low-dose imatinib is unclear. We report 2 cases to show effectiveness of low-dose imatinib in patients with adverse events. The first case is a male in his early 60s with a history of intestinal GIST resection who was diagnosed with recurrent GIST with peritoneal dissemination. He was started on low-dose imatinib (300 mg) because of a history of subconjunctival hemorrhage after receiving postoperative imatinib. Follow-up contrast-enhanced ultrasonography revealed that the tumors had shrunk in size and number after 2 months of treatment with 300-mg imatinib. He continued this treatment and showed partial response for 8 months. The second case is a female in her late 70s with rectal GIST who was treated with imatinib 400 mg. Due to a severe skin lesion, she changed her treatment to sunitinib 2 months after initiation. However, new metastasis in the liver was confirmed after 4 months of administration of sunitinib. She underwent surgical esection of the rectal tumor to reduce the volume. After the surgery, low-dose imatinib (300 mg) with oral steroids was adopted. Follow-up confirmed the absence of recurrence at the rectum and no increase in hepatic tumor size for 18 months. Aggressive treatment with low-dose imatinib instead of discontinuation or alteration of treatment may benefit patients with unresectable and postoperative GISTs with sensible mutation to imatinib.

Granular cell tumor (GCT) was first described by Abrikossoff in 1926. It is a mostly benign tumor with rare malignant transformation. It is defined as a soft tissue neoplasm with abundant eosinophilic cytoplasm. The mean age of diagnosis for GCT is around 45 years. It is rare for GCT to be found in the gastrointestinal (GI) tract. Within the subset of GI tract, the colon is an extremely rare site for it to be found. Franburg-Smith histopathology criteria are used to differentiate a benign from a malignant GCT. The malignant form is aggressive with high recurrence rates after resection. Histopathology and immunohistochemical stains are used to make a definitive diagnosis. Herein, we present a rare case of an ascending colon polyp that was resected and found to be a benign GCT.

Hypereosinophilic syndrome (HES) is a rare condition characterized by hypereosinophilia in peripheral blood or tissue infiltrate and organ damage. HES has been associated with several diseases, including inflammatory bowel diseases (IBDs), especially ulcerative colitis (UC). In this report, we describe a case of a UC and primary sclerosing cholangitis patient who was diagnosed with HES and severe cardiovascular and neurological injury. During hospitalization, an extensive diagnostic workup was performed and secondary causes of hypereosinophilia were ruled out. The patient was treated with glucocorticoids and full anticoagulation with significant clinical improvement and a marked reduction in the eosinophil count. In the literature, hypereosinophilia in the IBD population has been related to the severity of the disease and worse prognosis. The high index of clinical suspicion and the accurate diagnosis of HES are essential to avoid delay in therapy and prevent complications.

We report 4 cases of hypopharyngeal cancer preoperatively suspected with synchronous lymph node metastases. Pathologic lymph node metastasis was confirmed in three of the four cases. All 4 cases underwent endoscopic laryngopharyngeal surgery (ELPS) combined with endoscopic submucosal dissection (ESD) and subsequent lymph node dissection as an optional treatment rather than the standard treatment. Peroral resection for primary site was selected because of the expected decline in quality of life (QoL) after radical surgery. Among 4 patients, one developed local recurrence; however, the other three remained recurrence-free and survived without any additional treatment. Furthermore, the patient who developed local recurrence had a recurrence-free survival for more than 5 years, with additional chemoradiation therapy. No disorders in speech, swallowing, or breathing was observed during the follow-up period. ELPS combined with ESD is generally indicated for laryngopharyngeal cancer without synchronous lymph node metastasis. However, this can be a treatment option for patients may wish to preserve a greater QoL after treatment. In the future, when more data on the results and long-term prognosis of this treatment are accumulated, it may be possible to discuss its validity further.

Breast cancers metastasize most commonly to the bone, brain, liver, and lungs, but rarely to the gastrointestinal tract. Although metastatic breast carcinomas in the stomach can be confused with primary gastric cancers due to their nonspecific presentation and rare incidence, it is important to differentiate the two since the treatment is different. Clinical suspicion is imperative for a prompt endoscopic evaluation and a definitive diagnosis that will lead to appropriate treatment. Therefore, it is important for clinicians to be aware of the possibility of gastric metastasis of breast cancers, especially in those with a history of invasive lobular breast carcinoma and a new onset of gastrointestinal symptoms.

Colon cancer has had a significant increase in its incidence in recent years. Many of the cases are diagnosed late; it is not unusual that a large number of cases present metastatic disease at the time of diagnosis, and the liver is the main organ where these lesions occur. Surgical approach to this condition has undergone many advances which have allowed a better approach to them. Local techniques such as embolization have gained momentum in recent years and are a great help to the surgical planning. We present the case of a 72-year-old female patient diagnosed with colorectal cancer and metastatic disease. Multiple liver tumors were demonstrated by imaging studies. A staged resection of the primary tumor and the metastatic hepatic tumors was planned. It was decided to perform an embolization of the hepatic artery to cause hypertrophy of the left lobe before the second stage of the surgical approach with good clinical and laboratorial findings after the surgery. Follow-up with adjuvant chemotherapy, imaging studies and tumor markers is planned. Several publications state that surgical approach of metastatic disease is still controversial and that decisions should be made under the context of each patient. Many techniques have shown good results; embolization of the hepatic tumors has a good outcome in the survival rate in selected patients. Hepatic volume and future liver remnant should be always assessed with imaging studies. Each case has to be individualized for the approach of the metastatic disease, always in a coordinated teamwork for maximum benefit of the patient.

Malignant melanoma of the rectum is an exceedingly rare type of cancer with an aggressive presentation, comprising up to 4% of all anorectal cancers. Presentation of this cancer tends to occur in individuals in their late 80s, with nonspecific symptoms such as anal pain or rectal bleeding. Diagnosing rectal melanoma, especially in early stages, is difficult due to its amelanotic presentation and lack of pigmentation, which results in poor remission rates and prognosis. Furthermore, surgical treatment is difficult as these types of malignant melanomas tend to spread along submucosal planes; thus, complete resections are impractical, especially if caught later. In this case report, we present the radiological and pathological features as seen in a 76-year-old man diagnosed with rectal melanoma. Based on his presentation of a heterogeneous bulky anorectal mass with extensive local invasion, initial impressions were colorectal carcinoma. However, surgical pathology found the mass to be a c-KIT+ melanoma, with positive SOX10, Melan-A, HMB-45, and CD117 biomarkers. While the patient was treated with imatinib, the melanoma was too widespread and aggressive, leading to progression and ultimately death.

The most common site of traditional serrated adenomas (TSA) is the area from the left colon to the rectum; however, there are few reports on TSA in the small intestine. Herein, we report a case of TSA of the ileum with intussusception that was diagnosed and successfully treated with laparoscopic bowel resection. The patient was a 29-year-old female with the chief complaint of recurrent abdominal pain and vomiting. Contrast-enhanced computed tomography showed a mass in the ileum and intussusception with the mass as the lead point. The patient was diagnosed with intussusception secondary to a small intestinal tumor. Due to the difficulty in endoscopic treatment resulting from the localization of the lesion, elective laparoscopic surgery was planned. Intra-abdominal examination revealed intussusception of the small intestine in the pelvic ileum, and an elastic soft mass 400 cm from the ligament of Treitz was identified at the lead point of intussusception. Partial laparoscopic resection of the small intestine was performed, with an operation time of 81 min, and a small amount of bleeding. The pathological diagnosis was TSA of the ileum, and the patient's postoperative course was good, with no complications. Seven months after the surgery, no recurrence of symptoms was observed. Therefore, from our case of TSA of the ileum with intussusception that was successfully treated with laparoscopic bowel resection, we conclude that when intussusception of the small intestine occurs, TSA of the ileum with malignant potential is possible, and early diagnosis by resection should be considered.