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Last updated: November 25, 2019
Years published: 1991, 1996, 1997, 1999, 2002, 2008, 2012, 2015, 2018
NORD gratefully acknowledges Paul H. Sugarbaker, MD, FACS, FRCS, Director, Program in Peritoneal Surface Malignancy, Washington Cancer Institute, for assistance in the preparation of this report.
Pseudomyxoma peritonei is a rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor cells within the abdomen and pelvis. The disorder develops after a small growth (polyp) located within the appendix bursts through the wall of the appendix, and spreads mucus-producing tumor cells throughout the surrounding surfaces (e.g., the membrane that lines the abdominal cavity [peritoneum]). As mucinous tumor cells accumulate, the abdominal area becomes swollen and digestive (gastrointestinal) function becomes impaired. Pseudomyxoma peritonei develops at a variable rate, but may grow at a slower rate (indolent) than other malignancies within the abdomen.
The most common symptoms in individuals with pseudomyxoma peritonei occur due to progressively increasing mucinous tumor within the abdomen and pelvis. Usually, the most common symptom is increasing abdominal size (so called โjelly bellyโ) and abdominal discomfort from pressure. Although the abdomen may be swollen, it is generally not painful to touch (palpation). In affected males, the second most common finding is protrusion of parts of the intestines through an abnormal opening in the muscular wall of the abdomen near the groin (inguinal hernia). In affected females, the second most common finding is usually an abnormally enlarged ovary. The mucinous tumor seems to grow rapidly within ovarian tissue.
The mucinous tumor accumulates within the fatty membrane in front of the intestines (greater omentum), beneath the muscle that separates the chest from the abdomen (diaphragm), and within the pelvis. In most cases, the small bowel is unaffected. Frequently, the primary tumor that ruptured the appendix may be small in comparison to the extensive mucinous tumor that develops within the abdomen and pelvis. Without appropriate treatment intervention, this disorder will result in obstruction of the intestines or the loss of intestinal function. Progressive mucinous tumor accumulation can result in poor food intake, malnutrition, and, eventually, life-threatening complications.
As with a great majority of tumors the exact cause of pseudomyxoma peritonei is not known. There are no genetic, familial, or environmental factors known to cause this disorder.
Pseudomyxoma peritonei develops from a hole (perforation) in the appendix that is caused by the penetration of a small growth (polyp) located within the appendix. The tumor cells from the appendix spread (migrate) within the abdominal and pelvic cavity to characteristic locations. Once they reach these locations, tumor cells continue to grow. Characteristic locations for tumor cell growth are within the fatty membrane in front of the intestines (greater omentum), beneath the muscle that separates the chest from the abdomen (diaphragm), and within the pelvis. In females, there may be excessive growth on both ovaries.
Pseudomyxoma peritonei is a very rare disorder with approximately 2 cases per million individuals. Males and females are affected in equal numbers. It is a misconception that females develop this disorder more frequently than males. However, this misconception occurs because some ovarian tumors are frequently mistakenly identified as pseudomyxoma ovarii.
The average age of onset of pseudomyxoma peritonei is 48 years, which is considerably earlier than other malignancies that occur within the abdomen.
The diagnosis of pseudomyxoma peritonei may be confirmed by radiologic technologies such as abdominal CT scan or abdominal MRI (magnetic resonance imaging). These imaging tests may reveal the characteristic distribution of large amounts of mucus to particular locations within the abdomen and pelvis. They may also localize a primary tumor in the area of the appendix referred to as a mucocele.
The goal of the treatment of pseudomyxoma peritonei is cure. This is achieved in approximately 65% of patients. The treatments are cytoreductive surgery with peritonectomy in an attempt to remove all visible evidence of the disease from the abdomen and pelvis. Because the mucinous tumor is so widely distributed throughout the abdomen and pelvis, the surgery may take up to 12 hours. Then, to prevent reimplantation of cancer cells, the abdomen is washed with a warm chemotherapy solution. This is commonly referred to hyperthermic intraperitoneal chemotherapy or HIPEC. Sometimes the surgeon must search carefully for the primary appendiceal tumor for it may be very small in comparison to the mucinous tumor and mucinous ascites that can accumulate in kilogram quantities within the abdomen and pelvis. The hyperthermic intraperitoneal drugs which are commonly used to treat this disease include mitomycin C and oxaliplatin. The chemotherapy is heated to 42 degrees in the abdominal cavity to increase penetration of the drugs into the mucinous tumor and to increase the local cytotoxicity.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
Information about current clinical trials is posted on this page on the ACPMP Research Foundation website:
https://acpmp.org/clinical-trials
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease. For more information, visit www.rareconnect.org.
TEXTBOOKS
Sugarbaker PH (Ed). Cytoreductive Surgery & Perioperative Chemotherapy for Peritoneal Surface Malignancy. Textbook and Video Atlas. Cine-Med Publishing: Woodbury, CT, 2012.
Ceelen WP. Peritoneal Carcinomatosis. New York, NY: Springer; 2007.
Sugarbaker P. Cancer of the appendix and pseudomyxoma. In: Current Therapy in Colon and Rectal Surgery. 2nd ed. Philadelphia, PA: BC Decker, Inc; 2005:369-378.
JOURNAL ARTICLES
Dayal S, et al. Complete cytoreduction for pseudomyxoma peritonei is optimal but maximal tumor debulking may be beneficial in patients in whom complete tumor removal cannot be achieved. Dis Colon Rectum 2013;56:1366-72.
Austin F, et al. Aggressive management of peritoneal carcinomatosis from mucinous appendiceal neoplasms. Ann Surg Oncol. 2012;19:1386-93.
El Halabi H, et al. The role of cytoreductive surgery and heated intraperitoneal chemotherapy (CRS/HIPEC) in patients with high-grade appendiceal carcinoma and extensive peritoneal carcinomatosis. Ann Surg Oncol. 2012;19:110-14.
Wagner PL, et al. Early postoperative intraperitoneal chemotherapy following cytoreductive surgery for appendiceal mucinous neoplasms with isolated peritoneal metastases. Dis Colon Rectum. 2012;55:407-15.
Youssef H, et al. Operative findings, early complications, and long-term survival in 456 patients with pseudomyxoma peritonei syndrome of appendiceal origin. Dis Colon Rectum. 2011;54:293-99.
Sugarbaker PH, et al. Pseudomyxoma peritonei syndrome. Adv Surg. 1996;30:233-79.
Yan TD, Black D, Savady R, Sugarbaker PH. A systematic review on the efficacy of cytoreductive surgery and perioperative intraperitoneal chemotherapy for pseudomyxoma peritonei. Ann Surg Oncol. 2007;14:484-92.
Sugarbaker PH. New standard of care for appendiceal epithelial malignancies and pseudomyxoma peritonei syndrome. Lancet Oncol. 2006;7:69-76.
Jackson SL, et al. Gelatinous ascites: a cytohistologic study of pseudomyxoma peritonei in 67 patients. Mod Pathol. 2001;14:664-71.
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
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