At the Focal Point
Commentary Familiarity with both primary and metastatic small-bowel tumors is paramount to the gastroenterologist. However, given their rarity compared with tumors of the large bowel as well as the nonspecific and variable signs and symptoms with which they present, they can pose a diagnostic challenge to clinicians, resulting in delay from symptom onset to diagnosis. Despite the small bowel making up approximately 75% of the length of the GI tract, small-bowel malignancies account for only 3% of all GI tract neoplasms in the United States. This case is therefore unique and relevant not only in the location of metastatic involvement and its endoscopic appearance but also in the nature of the primary malignancy, one not uncommonly found to be the cause of small-bowel metastasis. Primary malignant small-bowel tumors can include carcinoid tumors, adenocarcinomas, lymphomas, and sarcomas, with carcinoid tumors now surpassing all others as the most common small-bowel malignancy. Some tend to have a liking for a portion of the small bowel, with adenocarcinomas having a predilection for the duodenum and carcinoid tumors for the ileum. In contrast to primary malignant tumors of the small intestine, hematogenous spread of metastatic disease to the small bowel is uncommon. When this is seen, the most common metastases to the upper GI tract (including the small intestine) are from melanoma, breast, and lung malignancies. In fact, the small intestine is the most common GI site for metastatic melanoma. Upper GI bleeding and anemia are common presenting features. Treatment of small-bowel metastatic disease is focused on palliation. This can include resection of the lesion, intestinal bypass, or endoscopic stenting (the latter used mostly for gastroduodenal obstruction). A recent review of 57 case reports and 3 retrospective studies suggests a prevalence of small-bowel metastasis from primary lung cancer as high as 10.7%. Poor tumor differentiation and advanced T and N stages of the primary lung cancer are associated with intestinal metastasis. Patients experience 3 frequent clinical presentations, which include intestinal perforation, obstruction, and bleeding. Gastroenterologists must be cognizant of the various primary tumors affecting the small bowel but also those representing metastatic disease. Although once felt to be an uncommon presentation, it appears that primary lung cancer not uncommonly metastasizes to the small intestine. Given the frequency with which we encounter patients afflicted with lung cancer, we should keep small-bowel metastatic disease in the differential diagnosis for lung cancer patients presenting with melena or other small bowel–related symptoms. Raul Badillo, MD Fellow in Gastroenterology and Hepatology Mayo Clinic Florida Massimo Raimondo, MD Associate Editor for Focal Points
Anorectal malignant melanoma in a patient presenting with prolapsing hemorrhoids A 67-year-old, previously healthy woman presented with scanty rectal bleeding and protruding reducible anal masses. She was told previously that she had internal hemorrhoids. There was no family history of malignancy, including melanoma. Previous screening colonoscopies 9 and 3 years prior reportedly had normal results. Physical examination results were normal, apart from palpable mobile anal masses. A colonoscopy demonstrated 2 tancolored, pedunculated masses at the dentate line (A), which were removed by snare diathermy. Pathology showed a polypoid structure lined by squamocolumnar mucosa, with an underlying malignant population of spindle and epithelioid cells (B, H&E, orig. mag. x 400). Immunohistochemical staining showed that the tumor cells were positive for melan-A (C, Melan-A, orig. mag. x 600) and negative for pan-keratin (D, Pan-keratin, orig.
mag. x 600), consistent with melanoma. Abdominal perineal resection was performed, yielding residual invasive and in situ melanoma, with in situ disease extending to the distal resection margin. There was no initial metastatic disease; however, hepatic and pulmonary metastasis evolved, and the patient died 19 months after diagnosis despite aggressive surgery and chemotherapy.
www.giejournal.org
Volume 82, No. 2 : 2015 GASTROINTESTINAL ENDOSCOPY 417
DISCLOSURE All authors disclosed no financial relationships relevant to this article. Zachary Bordman, BSc, Elliott Cohen, BSc, Division of Gastroenterology, Eugene Hsieh, MD, Department of Anatomic Pathology, Lawrence B. Cohen, MD, Division
At the Focal Point
of Gastroenterology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada
http://dx.doi.org/10.1016/j.gie.2015.02.006
Commentary Anal cancer accounts for approximately 2% of all colorectal malignancy. In the United States, there are about 5000 cases diagnosed annually, resulting in 700 deaths. There are different types of anorectal malignancies, including squamous cell carcinoma, adenocarcinoma, neuroendocrine tumor (carcinoid tumor, small cell carcinoma, and high-grade neuroendocrine tumor), melanoma, mesenchymal tumors (GI stromal tumors, schwannomas, sarcomas), and lymphoma. The majority of these tumors are squamous cell carcinomas, and melanoma accounts for only 0.05% to 4.6% of all anorectal malignancies. Melanomas are cancers that arise from melanocytes. A majority of melanomas are cutaneous in origin, but there are extracutaneous melanomas, including ocular, mucosal, and leptomeningeal melanoma. Unlike cutaneous melanoma, mucosal melanomas are rare and represent only 1.4% of all melanomas. Primary mucosal melanomas are tumors that arise from melanocytes located in the mucosal membranes lining the GI, urogenital, and respiratory tracts. Although they can arise from any region of the GI mucosa, the most common sites are the anorectal and oropharyngeal regions. Anorectal melanoma was reported first by Moore in 1857, and it is an aggressive malignancy with a poor prognosis. It is the most common primary melanoma of the GI tract and accounts for 16.5% of all mucosal melanomas. Anorectal is the third most common primary origin of melanoma after cutaneous and ocular. It is more frequent in female patients aged 65 to 70 years, and the incidence is 1.7-fold higher in the white rather than black population. It can present with anal bleeding, prolapse of an anal mass, anal pain, pruritus, tenesmus, alteration in bowel habits, incontinence, 418 GASTROINTESTINAL ENDOSCOPY Volume 82, No. 2 : 2015
www.giejournal.org
At the Focal Point
and weight loss. Anal bleeding and anorectal mass account for the majority of its clinical presentation, at 58% to 72% and 16% to 40%, respectively. In 30% of cases, it can appear amelanotic, and in two-thirds of patients it can be misdiagnosed as hemorrhoids, polyps, or other rectal tumors. Because of delay of diagnosis, only 37% of anorectal melanomas are confined to the anorectal area, and about 22% have distant metastasis to liver, lungs, and brain. Because of its rarity, there is a lack of consensus on treatment. Surgery remains the mainstay of therapy, and the role of adjuvant therapy (chemotherapy, radiotherapy, and immunotherapy) remains unclear. Once thought to be the optimal treatment, abdominoperineal resection does not offer a significant survival advantage compared with wide local excision. Thus, wide local excision is suggested as the initial treatment of choice, because this avoids permanent colostomy. The prognosis of anorectal melanoma is extremely poor. Even with treatment, the 5-year survival rate is 6% to 22%. Without careful retroflexion during colonoscopy or flexible sigmoidoscopy, anorectal melanoma can be mistaken for hemorrhoids, delaying appropriate treatment. One third of these lesions can be amelanotic; thus, absence of pigment does not completely exclude the diagnosis. When in doubt, biopsy of the lesion should be accomplished. In addition, prompt referral to colorectal surgery is crucial for early treatment. Wei-Chung Chen, MD Fellow in Gastroenterology and Hepatology Mayo Clinic Florida Massimo Raimondo, MD Associate Editor for Focal Points
Ten-millimeter advanced transverse colon cancer accompanied by a sessile serrated adenoma and/or polyp
A woman in her fifties underwent total colonoscopy that showed a 10-mm protruding lesion with a depressed area in the mid-transverse colon (A). The protruding
area of the lesion was whitish in color, whereas the depressed area was reddish. Magnifying narrow-band imaging showed thick and branched vessels and expanded
www.giejournal.org
Volume 82, No. 2 : 2015 GASTROINTESTINAL ENDOSCOPY 419
Commentary Familiarity with both primary and metastatic small-bowel tumors is paramount to the gastroenterologist. However, given their rarity compared with tumors of the large bowel as well as the nonspecific and variable signs and symptoms with which they present, they can pose a diagnostic challenge to clinicians, resulting in delay from symptom onset to diagnosis. Despite the small bowel making up approximately 75% of the length of the GI tract, small-bowel malignancies account for only 3% of all GI tract neoplasms in the United States. This case is therefore unique and relevant not only in the location of metastatic involvement and its endoscopic appearance but also in the nature of the primary malignancy, one not uncommonly found to be the cause of small-bowel metastasis. Primary malignant small-bowel tumors can include carcinoid tumors, adenocarcinomas, lymphomas, and sarcomas, with carcinoid tumors now surpassing all others as the most common small-bowel malignancy. Some tend to have a liking for a portion of the small bowel, with adenocarcinomas having a predilection for the duodenum and carcinoid tumors for the ileum. In contrast to primary malignant tumors of the small intestine, hematogenous spread of metastatic disease to the small bowel is uncommon. When this is seen, the most common metastases to the upper GI tract (including the small intestine) are from melanoma, breast, and lung malignancies. In fact, the small intestine is the most common GI site for metastatic melanoma. Upper GI bleeding and anemia are common presenting features. Treatment of small-bowel metastatic disease is focused on palliation. This can include resection of the lesion, intestinal bypass, or endoscopic stenting (the latter used mostly for gastroduodenal obstruction). A recent review of 57 case reports and 3 retrospective studies suggests a prevalence of small-bowel metastasis from primary lung cancer as high as 10.7%. Poor tumor differentiation and advanced T and N stages of the primary lung cancer are associated with intestinal metastasis. Patients experience 3 frequent clinical presentations, which include intestinal perforation, obstruction, and bleeding. Gastroenterologists must be cognizant of the various primary tumors affecting the small bowel but also those representing metastatic disease. Although once felt to be an uncommon presentation, it appears that primary lung cancer not uncommonly metastasizes to the small intestine. Given the frequency with which we encounter patients afflicted with lung cancer, we should keep small-bowel metastatic disease in the differential diagnosis for lung cancer patients presenting with melena or other small bowel–related symptoms. Raul Badillo, MD Fellow in Gastroenterology and Hepatology Mayo Clinic Florida Massimo Raimondo, MD Associate Editor for Focal Points
Anorectal malignant melanoma in a patient presenting with prolapsing hemorrhoids A 67-year-old, previously healthy woman presented with scanty rectal bleeding and protruding reducible anal masses. She was told previously that she had internal hemorrhoids. There was no family history of malignancy, including melanoma. Previous screening colonoscopies 9 and 3 years prior reportedly had normal results. Physical examination results were normal, apart from palpable mobile anal masses. A colonoscopy demonstrated 2 tancolored, pedunculated masses at the dentate line (A), which were removed by snare diathermy. Pathology showed a polypoid structure lined by squamocolumnar mucosa, with an underlying malignant population of spindle and epithelioid cells (B, H&E, orig. mag. x 400). Immunohistochemical staining showed that the tumor cells were positive for melan-A (C, Melan-A, orig. mag. x 600) and negative for pan-keratin (D, Pan-keratin, orig.
mag. x 600), consistent with melanoma. Abdominal perineal resection was performed, yielding residual invasive and in situ melanoma, with in situ disease extending to the distal resection margin. There was no initial metastatic disease; however, hepatic and pulmonary metastasis evolved, and the patient died 19 months after diagnosis despite aggressive surgery and chemotherapy.
www.giejournal.org
Volume 82, No. 2 : 2015 GASTROINTESTINAL ENDOSCOPY 417
DISCLOSURE All authors disclosed no financial relationships relevant to this article. Zachary Bordman, BSc, Elliott Cohen, BSc, Division of Gastroenterology, Eugene Hsieh, MD, Department of Anatomic Pathology, Lawrence B. Cohen, MD, Division
At the Focal Point
of Gastroenterology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada
http://dx.doi.org/10.1016/j.gie.2015.02.006
Commentary Anal cancer accounts for approximately 2% of all colorectal malignancy. In the United States, there are about 5000 cases diagnosed annually, resulting in 700 deaths. There are different types of anorectal malignancies, including squamous cell carcinoma, adenocarcinoma, neuroendocrine tumor (carcinoid tumor, small cell carcinoma, and high-grade neuroendocrine tumor), melanoma, mesenchymal tumors (GI stromal tumors, schwannomas, sarcomas), and lymphoma. The majority of these tumors are squamous cell carcinomas, and melanoma accounts for only 0.05% to 4.6% of all anorectal malignancies. Melanomas are cancers that arise from melanocytes. A majority of melanomas are cutaneous in origin, but there are extracutaneous melanomas, including ocular, mucosal, and leptomeningeal melanoma. Unlike cutaneous melanoma, mucosal melanomas are rare and represent only 1.4% of all melanomas. Primary mucosal melanomas are tumors that arise from melanocytes located in the mucosal membranes lining the GI, urogenital, and respiratory tracts. Although they can arise from any region of the GI mucosa, the most common sites are the anorectal and oropharyngeal regions. Anorectal melanoma was reported first by Moore in 1857, and it is an aggressive malignancy with a poor prognosis. It is the most common primary melanoma of the GI tract and accounts for 16.5% of all mucosal melanomas. Anorectal is the third most common primary origin of melanoma after cutaneous and ocular. It is more frequent in female patients aged 65 to 70 years, and the incidence is 1.7-fold higher in the white rather than black population. It can present with anal bleeding, prolapse of an anal mass, anal pain, pruritus, tenesmus, alteration in bowel habits, incontinence, 418 GASTROINTESTINAL ENDOSCOPY Volume 82, No. 2 : 2015
www.giejournal.org
At the Focal Point
and weight loss. Anal bleeding and anorectal mass account for the majority of its clinical presentation, at 58% to 72% and 16% to 40%, respectively. In 30% of cases, it can appear amelanotic, and in two-thirds of patients it can be misdiagnosed as hemorrhoids, polyps, or other rectal tumors. Because of delay of diagnosis, only 37% of anorectal melanomas are confined to the anorectal area, and about 22% have distant metastasis to liver, lungs, and brain. Because of its rarity, there is a lack of consensus on treatment. Surgery remains the mainstay of therapy, and the role of adjuvant therapy (chemotherapy, radiotherapy, and immunotherapy) remains unclear. Once thought to be the optimal treatment, abdominoperineal resection does not offer a significant survival advantage compared with wide local excision. Thus, wide local excision is suggested as the initial treatment of choice, because this avoids permanent colostomy. The prognosis of anorectal melanoma is extremely poor. Even with treatment, the 5-year survival rate is 6% to 22%. Without careful retroflexion during colonoscopy or flexible sigmoidoscopy, anorectal melanoma can be mistaken for hemorrhoids, delaying appropriate treatment. One third of these lesions can be amelanotic; thus, absence of pigment does not completely exclude the diagnosis. When in doubt, biopsy of the lesion should be accomplished. In addition, prompt referral to colorectal surgery is crucial for early treatment. Wei-Chung Chen, MD Fellow in Gastroenterology and Hepatology Mayo Clinic Florida Massimo Raimondo, MD Associate Editor for Focal Points
Ten-millimeter advanced transverse colon cancer accompanied by a sessile serrated adenoma and/or polyp
A woman in her fifties underwent total colonoscopy that showed a 10-mm protruding lesion with a depressed area in the mid-transverse colon (A). The protruding
area of the lesion was whitish in color, whereas the depressed area was reddish. Magnifying narrow-band imaging showed thick and branched vessels and expanded
www.giejournal.org
Volume 82, No. 2 : 2015 GASTROINTESTINAL ENDOSCOPY 419
