Recurrence with pagetoid spread arising 17 years after surgery for intramucosal rectal cancer: a case report.
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ABSTRACT:
SUBMITTER: Matsubara T
PROVIDER: S-EPMC5529303 | biostudies-other | 2017 Dec
REPOSITORIES: biostudies-other
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Project description:BackgroundRecent advancements in molecularly targeted chemotherapy for stage IV colorectal cancer have enabled the possibility of complete resection in primary colorectal cancer, which often involves distant liver or lung metastases, by aggressive surgical resection followed by multi-combination chemotherapy.Case descriptionA 73-year-old man treated previously for hyperuricemia, hypertension, and a dissecting abdominal aortic aneurysm was referred to us after an incidental finding of multiple liver masses on abdominal ultrasound during follow-up for the aneurysm. A detailed examination by contrast-enhanced computed tomography revealed a ring-enhancing mass larger than 5 cm in diameter in segment 3 of the liver and more than 6 low-density areas with total diameter of 1 to 2 cm in both lobes. A barium enema examination revealed a Borrmann type 2 lesion covering two-thirds of the circumference of the colon, with a 5-cm major axis in the rectosigmoid colon. Biopsy revealed a well-differentiated adenocarcinoma. The patient was diagnosed with stage IV rectal cancer. Because there was no intestinal obstruction, we administered 9 cycles of bevacizumab with capecitabine and oxaliplatin as chemotherapy. Subsequent diagnostic imaging revealed the metastatic lesions in liver segment 3 had reduced to 2 low-density areas with a diameter of 8 mm, and the other hepatic metastases had disappeared; the main tumor had flattened and shrunk. Therefore, we used hand-assisted laparoscopic surgery (HALS) to perform anterior resection of the rectosigmoid colon and partial resection of liver segment 3 as conversion therapy. The patient was discharged 10 days after surgery. The rectal lesion was a well-differentiated adenocarcinoma with a depth of invasion of p-MP and a spread of L0, V0, and pN0. The partial hepatectomy did not indicate viable cancer cells; only necrotic, lysed tissue was observed. Postoperative chemotherapy involved 4 cycles of bevacizumab with capecitabine and oxaliplatin. At more than 42 months postoperatively, no metastasis or recurrence has been observed.ConclusionsThis rare case demonstrates that conversion surgery can be a viable option following systemic chemotherapy in patients with advanced colon cancer and H3 liver metastases.
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Project description:The most common metastatic sites of gastric cancer include the liver, peritoneum, lung, and bone. However, there is a lack of relevant clinical reports regarding rectal metastasis. Herein, we report the rare case of a patient with gastric cancer who developed rectal metastasis. A 57-year-old male patient was diagnosed with gastric cancer and underwent a radical gastrectomy in January 2016, followed by eight cycles of adjuvant chemotherapy. The patient subsequently developed a rectal mass in March 2021. He was diagnosed with rectal adenocarcinoma and underwent surgical resection of the rectal tumor. A mass was then found in the abdominal wall in September 2021 and was resected. Specimens obtained from the three surgeries were reviewed, and the rectal tumor and the mass in the abdominal wall were both found to be metastatic tumors from the gastric cancer. Metastasis of gastric cancer to the rectum is rare, but it is important to differentiate between rectal metastasis and primary rectal cancer to help avoid unnecessary treatment.
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Project description:Rosette-forming glioneuronal tumour (RGNT) of the IV ventricle is a very recent entity, recognized in the latest WHO classification of Central Nervous System Tumors. It is composed by two distinct features: a glial component, with typical characteristics of pilocytic astrocytoma, and a component forming neurocytic rosettes, with eosinophilic regions positive for synaptofisin and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in a peculiar location, namely the spinal cord. We further performed an extensive immunohistochemistry and molecular analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. The histology revealed a WHO grade I RGNT typically found in the fourth-ventricle. Immunoreactivity for synaptophysin and neurofilament protein was noted in the neurocytic component, whereas the glial component exhibited positivity for GFAP and S-100. Neurocytic component was found negative for GFAP. Mitoses were rare, and there was no necrosis present. Across all mutational analyses, there were detected somatic mutations in 4 genes: MLL2, CNNM3, PCDHGC4 and SCN1A. The tumor exhibited a microsatellite stable (MSS) phenotype. Array-CGH (aCGH) showed loss in 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Moreover, we observed focal gains/losses in the chromosomes 1, 2, 3, 6, 7, 11, 14, 17, 22 and 23. Local amplifications in 9q34.2 (region with no genes mapped) and 19p13.3 (region encompassing the gene SBNO2) were identified. Additionally, we verified the KIAA1549-BRAF fusion, typically found in pilocytic astrocytomas, through aCGH, RT-PCR and FISH. Our comprehensive molecular profiling of a RGNT case suggests the existence of a unique genetic pathway for the development of these tumors: KIAA1549-BRAF fusion is a possible driver by constitutively activating MAPK pathway, and MLL2 mutation may lead to profound changes in the methylome. Taken together, these mechanisms may increase survival and/or tumorigenic capacity of cells, leading to the development of this rare entity.
2015-07-13 | GSE64891 | GEO
Project description:Rosette-forming glioneuronal tumour (RGNT) of the IV ventricle is a very recent entity, recognized in the latest WHO classification of Central Nervous System Tumors. It is composed by two distinct features: a glial component, with typical characteristics of pilocytic astrocytoma, and a component forming neurocytic rosettes, with eosinophilic regions positive for synaptofisin and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in a peculiar location, namely the spinal cord. We further performed an extensive immunohistochemistry and molecular analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. The histology revealed a WHO grade I RGNT typically found in the fourth-ventricle. Immunoreactivity for synaptophysin and neurofilament protein was noted in the neurocytic component, whereas the glial component exhibited positivity for GFAP and S-100. Neurocytic component was found negative for GFAP. Mitoses were rare, and there was no necrosis present. Across all mutational analyses, there were detected somatic mutations in 4 genes: MLL2, CNNM3, PCDHGC4 and SCN1A. The tumor exhibited a microsatellite stable (MSS) phenotype. Array-CGH (aCGH) showed loss in 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Moreover, we observed focal gains/losses in the chromosomes 1, 2, 3, 6, 7, 11, 14, 17, 22 and 23. Local amplifications in 9q34.2 (region with no genes mapped) and 19p13.3 (region encompassing the gene SBNO2) were identified. Additionally, we verified the KIAA1549-BRAF fusion, typically found in pilocytic astrocytomas, through aCGH, RT-PCR and FISH. Our comprehensive molecular profiling of a RGNT case suggests the existence of a unique genetic pathway for the development of these tumors: KIAA1549-BRAF fusion is a possible driver by constitutively activating MAPK pathway, and MLL2 mutation may lead to profound changes in the methylome. Taken together, these mechanisms may increase survival and/or tumorigenic capacity of cells, leading to the development of this rare entity. Two-color Agilent 8x60K array CGH (aCGH) was performed in the rosette-forming glioneuronal tumour (CY3) and reference DNA (CY5 - DNA extracted from leucocytes of the patient).
2015-07-13 | E-GEOD-64891 | biostudies-arrayexpress
Project description:BACKGROUND:Colostomy via the intraperitoneal route is often performed during laparoscopic Hartmann's operation or abdominoperineal resection. Internal hernia of the small intestine often occurs after colostomy. This report shows a rare case of internal hernia of the stomach associated with sigmoid colostomy after laparoscopic abdominoperineal resection for rectal cancer. CASE PRESENTATION:The patient was a 79-year-old woman with a sigmoid colostomy. Computed tomography scan showed a markedly distended stomach in the space between the lifted sigmoid colon and the lateral abdominal wall. Laparoscopy revealed that the body of the stomach had passed through a hernia orifice located between the lifted sigmoid colon and the left lateral abdominal wall. The dislocated stomach was restored to its normal position, and the lateral defect was closed with the lateral peritoneum and the lifted sigmoid colon laparoscopically. CONCLUSIONS:Internal hernia associated with colostomy can lead to not only obstruction of the small intestine, but also obstruction of the stomach. We reported a successful case of the suture repair for the internal hernia of the stomach associated with colostomy.
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Project description:RationaleSynchronous double malignancies, including carcinoma of the ampulla of Vater and rectal carcinoma, are generally uncommon occurrences in the gastrointestinal tract.Patient concernsThe present study report a case of a 37-year-old man who was incidentally found to suffer from carcinoma of the ampulla of Vater and rectal carcinoma.DiagnosesThe duodenoscopy was performed and revealed an ulcerated and bulky ampulla of Vater, the biopsy from which revealed a moderate-differentiated adenocarcinoma, A local hospital colonoscopy confirmed a tumor located in rectal 7 cm from the anal margin and biopsy-confirmed poorly differentiated adenocarcinoma.InterventionsAbout such patient treatment, both open and laparoscopic surgery are restricted because of operation complexity, large injury, and poor cosmetic effect. surgery performed using Da Vinci robotic surgical system (DVSS).OutcomesNo evidence of recurrence or relapses was found in the first year after surgery.LessonsAlthough sporadic double malignancies are uncommon, they should be considered when evaluating cancer patients. Complex surgery performed by robotic surgery may became surgeon's preferred treatment modality.
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Project description:IntroductionResection of the uterus is required in some cases of colorectal cancer with invasion of the uterus. Localisation of the ureters to prevent ureteral injuries is important during resection of advanced colorectal cancer and combined resection of the uterus.Case presentationWe report a case of a woman in her 80s with rectal cancer with invasion of the uterus. She presented with appetite loss and lower abdominal pain. She was hospitalised after being diagnosed with intestinal obstruction due to rectal cancer. Colonoscopy revealed a tumor involving 100% of the circumference of the rectosigmoid colon, and imaging showed rectal cancer with invasion of the uterus and a giant uterine fibroid. Fluorescent ureteral catheters were placed bilaterally under cystoscopy, and laparoscopic anterior rectal resection, combined hysterectomy, and bilateral adnexectomy were performed 1 day later. Near-infrared visualisation of these catheters enabled safe release of the surrounding tissues from the uterus.Clinical discussionSurgical treatment of rectal cancer with invasion of the uterus is not standardised and requires more complicated procedures, which are associated with a high risk of ureteral injury. Fluorescent ureteral catheters allow visualisation of the course of the ureters without releasing them, thereby enabling safe surgery.ConclusionIn fluorescence-guided surgery for rectal cancer, fluorescent ureteral catheters are particularly useful in patients with suspected invasion of other organs.
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Project description:Treatment of pulmonary recurrence from colorectal cancer involving the main bronchus usually entails palliation using interventional bronchoscopy, because the prognosis is generally very poor. Surgical experience has clarified that in this setting pneumonectomy should only be performed in carefully selected patients showing favorable prognostic profiles (defined by low carcinoembryonic antigen serum levels pre-thoracotomy), solitary and completely resectable pulmonary metastasis, and long disease-free intervals. In the few long-term survivors after pneumonectomy for late-recurrent colorectal cancer, the disease has a relatively indolent metastatic course and genetic and epigenetic profiling may provide further insight regarding tumor evolution.We describe a rare case of late hilar-endobronchial and lymph nodal recurrence of rectal cancer, sequential to hepatic metastasectomy, that we successfully treated with pneumonectomy and chemotherapy (leucovorin, 5-fluorouracil and oxaliplatin regimen); the patient achieved 7-year relapse-free survival after lung metastasectomy and 24-year overall survival after primary rectal cancer resection. To our knowledge, this is the longest survival reported after sequential liver resection and pneumonectomy for recurrent colorectal cancer. In our case the primary rectal cancer and its recurrences showed identical immunohistochemical patterns. The primary rectal cancer and the matched metastases (hepatic, pulmonary and lymph nodal) demonstrated no KRAS, NRAS, BRAF and PIK3CA mutations, a microsatellite stable phenotype, and no tumor protein p53 alterations or recurrent copy number alterations on chromosome 8. High genetic concordances between the paired primary tumor and metastases suggest that the key tumor biological traits remained relatively conserved in the three metastatic sites. Minor differences in gene specific hypermethylation were observed between the primary tumor and lung and nodal metastases. These differences suggest that epigenetic mechanisms may be causally involved in the microenvironmental regulation of cancer metastasis.The exceptionally long survival of the patient in our case study involving favorable clinical features was related to an excellent response to surgery and adjuvant chemotherapy; however, genetic or epigenetic factors that remain unidentified cannot be excluded as contributory factors. Our findings support the concept of a common clonal origin of the primary cancer and synchronous and late metastases, and suggest that aberrant DNA methylation may regulate tumor dormancy mechanisms.
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Project description:IntroductionGastrointestinal tract involvement in breast cancer is rarely encountered clinically. Data about this condition is limited and mostly from case reports.Case presentationWe report a case of rectal metastasis originating from breast cancer, which presents after a long-term latency of initial diagnosis. The patient had a history of diagnosis and treatment of stage II triple-negative breast cancer with mastectomy and adjuvant chemotherapy and radiotherapy. She showed no signs of recurrence up to eleven years, then presented with hematochezia and mild constipation. A rectal lesion was found on colonoscopy, which raise the initial suspicion of primary rectal cancer, but surprisingly, immunohistochemistry staining of the rectal specimen confirmed the origin of breast cancer.Clinical discussionBreast cancer with rectal metastasis is very rare. Immunohistochemistry combined with medical history is essential for definitive diagnosis in this situation. Mammaglobin and GCDFP-15, CDX2, CK20, and CK7 help differentiate the origin from the breast or the rectum.ConclusionThough breast cancer metastasizing to the rectum is a rare event, physicians should be aware of this differential diagnosis, even in patients with a remote history of breast cancer.
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Project description:A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection. Genetic analysis revealed mutations in several genes associated with Bartter syndrome (BS) and Gitelman syndrome, including SLC12A1, CLCNKB, CASR, SLC26A3, and SLC12A3. Prostaglandin E2 (PGE2) plays an important role in BS and worsens electrolyte abnormalities. The PGE2 level is reportedly increased in colorectal cancer, and in the present case, immunohistochemical examination revealed an increased PGE2 level in the tumor. We concluded that the tumor-related PGE2 elevation had worsened the patient's BS, which became more manageable after tumor resection.
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