- Email: [email protected]
Primary gastric amyloidosis presenting as an isolated gastric mass
At the Focal Point
Andrew B. Nguyen, MD, Department of Surgery, New York Hospital, Queens, New York, Farooq Mirza, MD, Division of Thoracic Surgery, Department of Cardiothoracic Surgery, New York Hospital, Queens, New York, New York–Presbyterian Hospital, Weill Cornell Medical College, New York, New York, Kaumudi Somnay, MD, Division of Gastrointestinal Medicine, Department of Medicine, New York Hospital, Queens, New York,
Paul C. Lee, MD, Subroto Paul, MD, Division of Thoracic Surgery, Department of Cardiothoracic Surgery, New York Hospital Queens, New York–Presbyterian Hospital, Weill Cornell Medical College, New York, New York, USA
http://dx.doi.org/doi:10.1016/j.gie.2012.02.019
Commentary The process of embryologic development is indeed complicated. It is a miracle to me that more things don’t go wrong. Here we have a consequence of faulty development of the posterior division of the primitive foregut, which occurs around the fourth week of gestation and resulted in an esophageal cyst. Esophageal cysts are either lined with epithelium (simple cyst) or composed of esophageal muscle and submucosa without epithelial duplication (esophageal duplication). Cysts comprise up to 20% of benign esophageal lesions, and most are diagnosed in childhood. Symptoms are caused by external compression of adjacent structures. Sixty percent of esophageal cysts occur in the lower third of the esophagus, producing dysphagia as the predominant symptom, and, if the cyst is posterior in location, cardiac arrhythmias may result; 20% occur in the upper third of the esophagus, where compression of the tracheobronchial tree causes dyspnea, and 20% occur in the middle third of the esophagus and usually present with retrosternal chest pain and dysphagia. Diagnosis today is by imaging and endoscopy: barium esophagography and endoscopy reveal extrinsic compression with an intact mucosa; a CT scan shows a fluid-filled cystic structure, and EUS demonstrates a 3- to 5-layer cystic, fluid-filled structure. Because most patients with esophageal cysts eventually become symptomatic, cysts should be resected when they are diagnosed. This case nicely illustrates how endoscopic management may replace more invasive treatment such as thoracotomy. Because esophageal cysts do not communicate with the lumen, and these cysts were relatively small, rubber band ligation was appropriate and effective. Khalil Gibran said “Progress lies not in enhancing what is, but in advancing toward what will be.” In this case, we see elements of both. Lawrence J. Brandt, MD Associate Editor for Focal Points
Primary gastric amyloidosis presenting as an isolated gastric mass A 67-year-old man was admitted with melena and anemia (hemoglobin 11 g/dL). His medical history was notable for hypertrophic obstructive cardiomyopathy that had been treated 5 years previously with myomectomy and placement of a bioprosthetic aortic valve. EGD revealed a 2.5- to 3-cm round mass at the gastric cardia that was oozing blood from superficial erosions (A). Gastric adenocarcinoma was suspected, but biopsies revealed amyloidosis (B). CT scan confirmed a mass in the cardia with several bilateral pulmonary nodules suggestive of metastasis (C). Because of our persistent concern about malignancy, repeated EGD and biopsies followed by EUS-FNA were performed, which confirmed amyloidosis (D). Surgical and hematologic consultations were obtained. Bone marrow biopsy showed negative results for amyloidosis or myeloproliferative diseases, and review of the prior myomectomy biopsy specimen was again negative for amyloid. Repeated CT of the chest showed resolution of the lung nodules. The patient declined surgery and did not have recurrent bleeding while not taking
aspirin and while using acid-suppressive therapy (hemoglobin 14 g/dL). However, after undergoing surveillance biopsies 1 year later, the patient experienced bleeding, which could not be controlled endoscopically (hemoglobin 11 g/dL). Angiography revealed extravasation of the left gastric artery, which stopped with embolization. Bleeding resumed the next day, and the patient underwent surgery with local excision of the mass. Pathologic examination showed amyloid.
DISCLOSURE All authors disclosed no financial relationships relevant to this publication. Rene Rivera, MD, Vivek Kaul, MD, FACG, Arthur DeCross, MD, AGAF, Department of Gastroenterology & Hepatology, Christa Whitney-Miller, MD, Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA http://dx.doi.org/10.1016/j.gie.2012.02.059
Commentary I love the amyloid story and retell it here for my own enjoyment and for those who do not know it. Amyloid was first described by Rokitansky in 1842 and is now known to result from the deposition of insoluble proteinaceous material produced in 186 GASTROINTESTINAL ENDOSCOPY Volume 76, No. 1 : 2012
www.giejournal.org
At the Focal Point
association with a variety of diseases. In the GI tract, amyloid may appear as ulcers, nodules, or polypoid masses, and it may have ischemic, malabsorptive, hemorrhagic, or dysmotility presentations. Nodular amyloid is unusual in the GI tract and most often is confined to the skin, where it usually involves acral areas, and the lung. Its varied presentations allow amyloid to join syphilis, cytomegalovirus, and lupus as another “great imitator.” Amyloid fibrillar protein can be seen on biopsy, but it is Congo red staining viewed under polarized light that gives amyloid its characteristic apple-green birefringence. The term “Congo red” was introduced at the 1885 Berlin West Africa Conference as the name for the first direct textile dye. At that time, the Congo River basin was an exotic new geopolitical and potentially profitable area; hence the name had marketing cachet, just like another textile dye with an African name used in medicine, Sudan black. The inventor, Paul Bottiger, subsequently sold his patent rights for Congo red to a major German textile dyestuff company (AGFA) that ultimately merged with others to form the ultimately infamous I.G. Farben Company. Congo red rarely is used today as a textile dye because it stains the fabrics of other garments when they are washed together. Unfortunately, there is no specific therapy for the disease, and median survival is only about a year. The take-home message here is to be aware of amyloid as a possibility, even when you see what seems to be a familiar disease pattern, and especially when a patient has associated chronic inflammatory disease, multiple myeloma, or monoclonal gammopathy or is receiving hemodialysis. We often think of amyloid whenever a large tongue prevents the endoscope from being easily advanced into the posterior pharynx. However, each time we traverse the posterior we should remind ourselves to consider Rokitansky’s amyloid. Lawrence J. Brandt, MD Associate Editor for Focal Points www.giejournal.org
Volume 76, No. 1 : 2012 GASTROINTESTINAL ENDOSCOPY 187
Andrew B. Nguyen, MD, Department of Surgery, New York Hospital, Queens, New York, Farooq Mirza, MD, Division of Thoracic Surgery, Department of Cardiothoracic Surgery, New York Hospital, Queens, New York, New York–Presbyterian Hospital, Weill Cornell Medical College, New York, New York, Kaumudi Somnay, MD, Division of Gastrointestinal Medicine, Department of Medicine, New York Hospital, Queens, New York,
Paul C. Lee, MD, Subroto Paul, MD, Division of Thoracic Surgery, Department of Cardiothoracic Surgery, New York Hospital Queens, New York–Presbyterian Hospital, Weill Cornell Medical College, New York, New York, USA
http://dx.doi.org/doi:10.1016/j.gie.2012.02.019
Commentary The process of embryologic development is indeed complicated. It is a miracle to me that more things don’t go wrong. Here we have a consequence of faulty development of the posterior division of the primitive foregut, which occurs around the fourth week of gestation and resulted in an esophageal cyst. Esophageal cysts are either lined with epithelium (simple cyst) or composed of esophageal muscle and submucosa without epithelial duplication (esophageal duplication). Cysts comprise up to 20% of benign esophageal lesions, and most are diagnosed in childhood. Symptoms are caused by external compression of adjacent structures. Sixty percent of esophageal cysts occur in the lower third of the esophagus, producing dysphagia as the predominant symptom, and, if the cyst is posterior in location, cardiac arrhythmias may result; 20% occur in the upper third of the esophagus, where compression of the tracheobronchial tree causes dyspnea, and 20% occur in the middle third of the esophagus and usually present with retrosternal chest pain and dysphagia. Diagnosis today is by imaging and endoscopy: barium esophagography and endoscopy reveal extrinsic compression with an intact mucosa; a CT scan shows a fluid-filled cystic structure, and EUS demonstrates a 3- to 5-layer cystic, fluid-filled structure. Because most patients with esophageal cysts eventually become symptomatic, cysts should be resected when they are diagnosed. This case nicely illustrates how endoscopic management may replace more invasive treatment such as thoracotomy. Because esophageal cysts do not communicate with the lumen, and these cysts were relatively small, rubber band ligation was appropriate and effective. Khalil Gibran said “Progress lies not in enhancing what is, but in advancing toward what will be.” In this case, we see elements of both. Lawrence J. Brandt, MD Associate Editor for Focal Points
Primary gastric amyloidosis presenting as an isolated gastric mass A 67-year-old man was admitted with melena and anemia (hemoglobin 11 g/dL). His medical history was notable for hypertrophic obstructive cardiomyopathy that had been treated 5 years previously with myomectomy and placement of a bioprosthetic aortic valve. EGD revealed a 2.5- to 3-cm round mass at the gastric cardia that was oozing blood from superficial erosions (A). Gastric adenocarcinoma was suspected, but biopsies revealed amyloidosis (B). CT scan confirmed a mass in the cardia with several bilateral pulmonary nodules suggestive of metastasis (C). Because of our persistent concern about malignancy, repeated EGD and biopsies followed by EUS-FNA were performed, which confirmed amyloidosis (D). Surgical and hematologic consultations were obtained. Bone marrow biopsy showed negative results for amyloidosis or myeloproliferative diseases, and review of the prior myomectomy biopsy specimen was again negative for amyloid. Repeated CT of the chest showed resolution of the lung nodules. The patient declined surgery and did not have recurrent bleeding while not taking
aspirin and while using acid-suppressive therapy (hemoglobin 14 g/dL). However, after undergoing surveillance biopsies 1 year later, the patient experienced bleeding, which could not be controlled endoscopically (hemoglobin 11 g/dL). Angiography revealed extravasation of the left gastric artery, which stopped with embolization. Bleeding resumed the next day, and the patient underwent surgery with local excision of the mass. Pathologic examination showed amyloid.
DISCLOSURE All authors disclosed no financial relationships relevant to this publication. Rene Rivera, MD, Vivek Kaul, MD, FACG, Arthur DeCross, MD, AGAF, Department of Gastroenterology & Hepatology, Christa Whitney-Miller, MD, Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA http://dx.doi.org/10.1016/j.gie.2012.02.059
Commentary I love the amyloid story and retell it here for my own enjoyment and for those who do not know it. Amyloid was first described by Rokitansky in 1842 and is now known to result from the deposition of insoluble proteinaceous material produced in 186 GASTROINTESTINAL ENDOSCOPY Volume 76, No. 1 : 2012
www.giejournal.org
At the Focal Point
association with a variety of diseases. In the GI tract, amyloid may appear as ulcers, nodules, or polypoid masses, and it may have ischemic, malabsorptive, hemorrhagic, or dysmotility presentations. Nodular amyloid is unusual in the GI tract and most often is confined to the skin, where it usually involves acral areas, and the lung. Its varied presentations allow amyloid to join syphilis, cytomegalovirus, and lupus as another “great imitator.” Amyloid fibrillar protein can be seen on biopsy, but it is Congo red staining viewed under polarized light that gives amyloid its characteristic apple-green birefringence. The term “Congo red” was introduced at the 1885 Berlin West Africa Conference as the name for the first direct textile dye. At that time, the Congo River basin was an exotic new geopolitical and potentially profitable area; hence the name had marketing cachet, just like another textile dye with an African name used in medicine, Sudan black. The inventor, Paul Bottiger, subsequently sold his patent rights for Congo red to a major German textile dyestuff company (AGFA) that ultimately merged with others to form the ultimately infamous I.G. Farben Company. Congo red rarely is used today as a textile dye because it stains the fabrics of other garments when they are washed together. Unfortunately, there is no specific therapy for the disease, and median survival is only about a year. The take-home message here is to be aware of amyloid as a possibility, even when you see what seems to be a familiar disease pattern, and especially when a patient has associated chronic inflammatory disease, multiple myeloma, or monoclonal gammopathy or is receiving hemodialysis. We often think of amyloid whenever a large tongue prevents the endoscope from being easily advanced into the posterior pharynx. However, each time we traverse the posterior we should remind ourselves to consider Rokitansky’s amyloid. Lawrence J. Brandt, MD Associate Editor for Focal Points www.giejournal.org
Volume 76, No. 1 : 2012 GASTROINTESTINAL ENDOSCOPY 187