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(058). Primary linitis plastica of rectum: Report of six cases
Colorectal Cancer / Arab Journal of Gastroenterology 10 (2009) AB27–AB35
(056) Lynch syndrome (hereditary non polyposis colorectal cancer): A challenge for the clinician H. El Koundi, I. Errabih, S. Tahri, G. Kharasse, M. Fadlollah, M. Tamezourt, H.E. Krami, N. Benzoubeir, L. Ouazzani, H. Ouazzani Clinique Médicale ‘B’, CHU Ibn Sina, Rabat, Morocco
Introduction: Lynch syndrome, also known as hereditary non polyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer. It is an autosomal dominant inherited disorder due to a mutation in one of the DNA mismatch repair genes, accounting for about 5–8% of colorectal cancers. Objectives: – –
To summarize the main features of this syndrome and provide an update of its management. To describe the benefits and harms related to screening and testing patients with colorectal cancer and their family members for HNPCC.
Case report: The patient was a 56-year-old male who was admitted to hospital because he presents chronic abdominal pain with constipation. The family talking was done and it was revealed that he had three family members with colorectal cancer (his father and two brothers). Brother‘s malignancy was diagnosed before 45 years of age. A colonoscopy was done. It revealed circumferential tumor located at 85 cm from the anal verge. A histopathologic diagnosis of poorly differentiated adenocarcinoma of clinical stage Dukes C was made. Abdominal CT scan was normal. Segmental colic resection was carried out. Histopahologic examination revealed one metastatic node from 14. The patient underwent courses of chemotherapy. Four months later, he developed frontal melanoma with liver metastasis. He died three months later. Conclusion: The main molecular cause for HNPCC is constitutional mutation in one of the mismatch repair (MMR) genes that regulate the excision of errors occurring during DNA replication. The most often are mutations of MLH1 and MSH2 genes, and microsatellite instability is present in about 90–95% HNPCC. In this report, we present a case of an HNPCC patient who met the Amsterdam criteria for Lynch syndrome I. Family members that fulfil the Amsterdam criteria should be investigated for mutation in MMR genes. Because, genetic tests are not routinely available, identification of HNPCC is a clinical challenge involving many clinicians. So, colonoscopic screening of all asymptomatic family members older than 25 has been recommended. doi:10.1016/j.ajg.2009.07.182
(057) Primary linitis plastica of the rectum H. El koundi, O. Alouat, S. Tahri, L. Jroundi, I. Chami, M. Boujida Department of Radiology, Institut National d’Oncologie, Rabat, Morocco
Background: Primary rectal linitis plastica (RLP) is a rare carcinoma, with a reported incidence of less than 0.1% of large bowel cancers. A long delay between the onset of symptoms and the diagnosis often occurs because RLP can mimic a lot of diseases and endoscopy and biopsies are often negative. The value of transrectal EUS in supporting the diagnosis of RLP is interesting. A rare case of a primary linitis plastica of the rectum occurring in a 36 years old woman is reported with review of pertinent literature. Aims: – –
To determine clinical and endoscopic RLP features. To raise the interest of transrectal EUS compared to CT scan in the diagnosis, and staging of RLP.
AB30
Case report: A 36 years old woman, without particular antecedents, has been admitted for rectal bleeding and rectal syndrome. Digital rectal examination found a circumferential narrowing at 06 cm of the anal margin. Colonoscopy was performed. It found a circumferential tumor with no other localisation in the colon. Deep rectal biopsies for histological examination were done. They revealed a moderate to poorly differentiated adenocarcinoma with signet ring cell differentiation. Tranrectal EUS found an irregular circumferential thickening of the rectum’s submucosis with satellite perirectal adenopathies. Abdominalpelvic CT scan shows a heterogeneous tumoral thickening of the rectal wall with pelvic lymph nodes. In order to exclude other tumor of the superior digestive tract, esogastric endoscopy was performed. It was normal. The patient underwent surgery and radio-chemotherapy. Conclusion: Primary rectal linitis is an exceptional form of submucosal tumour which is extremely rare and aggressive. It carries an ominous prognosis because it is often diagnosed at a late stage. EUS is the most accurate tool for local staging of rectal linitis. In addition to providing accurate T- and N-stage, EUS allows, compared to CT scan, assessment of the internal and external anal sphincters. doi:10.1016/j.ajg.2009.07.183
(058) Primary linitis plastica of rectum: Report of six cases K. Mrini, A. Hrora, H. El mernissi, A. Benamer, F. Sebbah, M. Raiss, M. Ahallat Surgical Department ‘‘C’’, Pr Tounsi, CHU Ibn Sina, Rabat, Morocco
Background: Primary linitis of the rectum is a rare disease, without specific clinical, radiological and endoscopic feature. The pathologic study is difficult and necessitates a deep biopsy, occurring diagnostic and therapeutic delay. The treatment is surgical. The prognosis is poor and survival time is about a few months. Cases report: We report six cases of primary linitis of rectum were managed during 8 years. There were 2 women and 4 men; their age average was 37 years (range 18–58 years). The mean diagnostic time was 7, 25 months and clinical manifestations were dominated by rectal bleeding in 4 patients and rectal pain in 3 patients. Cancer was localized at low and medium rectum, less than 10 cm from the anal margin in 4 patients and at upper rectum, between 10 and 15 cm from the anal margin in 2 patients. Endoscopic biopsy was negative in 4 cases and histological examination a surgical biopsy found a signet cell carcinoma in 4 patients. All patients presented advanced stages with peritoneal carcinomatosis in 3 cases, urinary flooding in 2 cases and lymph node metastasis in 1 case. Only 1 patient had rectal resection with anastomosis coloanale, 1 patient had a colostomy and 2 patients had exploratory laparotomy. The mean survival time 2, 5 months (range 1–5 months). Conclusion: The delay of diagnosis darkens the prognosis and complicates the therapeutic attitude. doi:10.1016/j.ajg.2009.07.184
(059) Multiple synchronous colorectal cancers (MSCC). About 3 cases O. Benkirane, N. Benzzoubeir, H. Tlemsani, H.E. Krami, I. Errabih, L. Ouazzani, H. Ouazzani Hepato-gastro-enterology Unit, Medical Clinic ‘‘ B’’, Universitary Hospital, Ibn Sina, Rabat, Morocco
Multiple synchronous colorectal cancers are defined by the existence on the colic and/or the rectum wall of more than one primitive and malignant neoplasic lesion evolving at the same time.
(056) Lynch syndrome (hereditary non polyposis colorectal cancer): A challenge for the clinician H. El Koundi, I. Errabih, S. Tahri, G. Kharasse, M. Fadlollah, M. Tamezourt, H.E. Krami, N. Benzoubeir, L. Ouazzani, H. Ouazzani Clinique Médicale ‘B’, CHU Ibn Sina, Rabat, Morocco
Introduction: Lynch syndrome, also known as hereditary non polyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer. It is an autosomal dominant inherited disorder due to a mutation in one of the DNA mismatch repair genes, accounting for about 5–8% of colorectal cancers. Objectives: – –
To summarize the main features of this syndrome and provide an update of its management. To describe the benefits and harms related to screening and testing patients with colorectal cancer and their family members for HNPCC.
Case report: The patient was a 56-year-old male who was admitted to hospital because he presents chronic abdominal pain with constipation. The family talking was done and it was revealed that he had three family members with colorectal cancer (his father and two brothers). Brother‘s malignancy was diagnosed before 45 years of age. A colonoscopy was done. It revealed circumferential tumor located at 85 cm from the anal verge. A histopathologic diagnosis of poorly differentiated adenocarcinoma of clinical stage Dukes C was made. Abdominal CT scan was normal. Segmental colic resection was carried out. Histopahologic examination revealed one metastatic node from 14. The patient underwent courses of chemotherapy. Four months later, he developed frontal melanoma with liver metastasis. He died three months later. Conclusion: The main molecular cause for HNPCC is constitutional mutation in one of the mismatch repair (MMR) genes that regulate the excision of errors occurring during DNA replication. The most often are mutations of MLH1 and MSH2 genes, and microsatellite instability is present in about 90–95% HNPCC. In this report, we present a case of an HNPCC patient who met the Amsterdam criteria for Lynch syndrome I. Family members that fulfil the Amsterdam criteria should be investigated for mutation in MMR genes. Because, genetic tests are not routinely available, identification of HNPCC is a clinical challenge involving many clinicians. So, colonoscopic screening of all asymptomatic family members older than 25 has been recommended. doi:10.1016/j.ajg.2009.07.182
(057) Primary linitis plastica of the rectum H. El koundi, O. Alouat, S. Tahri, L. Jroundi, I. Chami, M. Boujida Department of Radiology, Institut National d’Oncologie, Rabat, Morocco
Background: Primary rectal linitis plastica (RLP) is a rare carcinoma, with a reported incidence of less than 0.1% of large bowel cancers. A long delay between the onset of symptoms and the diagnosis often occurs because RLP can mimic a lot of diseases and endoscopy and biopsies are often negative. The value of transrectal EUS in supporting the diagnosis of RLP is interesting. A rare case of a primary linitis plastica of the rectum occurring in a 36 years old woman is reported with review of pertinent literature. Aims: – –
To determine clinical and endoscopic RLP features. To raise the interest of transrectal EUS compared to CT scan in the diagnosis, and staging of RLP.
AB30
Case report: A 36 years old woman, without particular antecedents, has been admitted for rectal bleeding and rectal syndrome. Digital rectal examination found a circumferential narrowing at 06 cm of the anal margin. Colonoscopy was performed. It found a circumferential tumor with no other localisation in the colon. Deep rectal biopsies for histological examination were done. They revealed a moderate to poorly differentiated adenocarcinoma with signet ring cell differentiation. Tranrectal EUS found an irregular circumferential thickening of the rectum’s submucosis with satellite perirectal adenopathies. Abdominalpelvic CT scan shows a heterogeneous tumoral thickening of the rectal wall with pelvic lymph nodes. In order to exclude other tumor of the superior digestive tract, esogastric endoscopy was performed. It was normal. The patient underwent surgery and radio-chemotherapy. Conclusion: Primary rectal linitis is an exceptional form of submucosal tumour which is extremely rare and aggressive. It carries an ominous prognosis because it is often diagnosed at a late stage. EUS is the most accurate tool for local staging of rectal linitis. In addition to providing accurate T- and N-stage, EUS allows, compared to CT scan, assessment of the internal and external anal sphincters. doi:10.1016/j.ajg.2009.07.183
(058) Primary linitis plastica of rectum: Report of six cases K. Mrini, A. Hrora, H. El mernissi, A. Benamer, F. Sebbah, M. Raiss, M. Ahallat Surgical Department ‘‘C’’, Pr Tounsi, CHU Ibn Sina, Rabat, Morocco
Background: Primary linitis of the rectum is a rare disease, without specific clinical, radiological and endoscopic feature. The pathologic study is difficult and necessitates a deep biopsy, occurring diagnostic and therapeutic delay. The treatment is surgical. The prognosis is poor and survival time is about a few months. Cases report: We report six cases of primary linitis of rectum were managed during 8 years. There were 2 women and 4 men; their age average was 37 years (range 18–58 years). The mean diagnostic time was 7, 25 months and clinical manifestations were dominated by rectal bleeding in 4 patients and rectal pain in 3 patients. Cancer was localized at low and medium rectum, less than 10 cm from the anal margin in 4 patients and at upper rectum, between 10 and 15 cm from the anal margin in 2 patients. Endoscopic biopsy was negative in 4 cases and histological examination a surgical biopsy found a signet cell carcinoma in 4 patients. All patients presented advanced stages with peritoneal carcinomatosis in 3 cases, urinary flooding in 2 cases and lymph node metastasis in 1 case. Only 1 patient had rectal resection with anastomosis coloanale, 1 patient had a colostomy and 2 patients had exploratory laparotomy. The mean survival time 2, 5 months (range 1–5 months). Conclusion: The delay of diagnosis darkens the prognosis and complicates the therapeutic attitude. doi:10.1016/j.ajg.2009.07.184
(059) Multiple synchronous colorectal cancers (MSCC). About 3 cases O. Benkirane, N. Benzzoubeir, H. Tlemsani, H.E. Krami, I. Errabih, L. Ouazzani, H. Ouazzani Hepato-gastro-enterology Unit, Medical Clinic ‘‘ B’’, Universitary Hospital, Ibn Sina, Rabat, Morocco
Multiple synchronous colorectal cancers are defined by the existence on the colic and/or the rectum wall of more than one primitive and malignant neoplasic lesion evolving at the same time.