Pseudomyxoma peritonei
Encyclopedia
Pseudomyxoma Peritonei is an uncommon tumor
known for its production of mucin
in the abdominal cavity. If left untreated, mucin will eventually build up to the point where it compresses vital structures: the colon
, the liver, kidneys,stomach, spleen, pancreas, etc.
Unlike most cancer
s, this disease rarely spreads through the lymphatic system
or through the bloodstream. Therefore it is characterized by mucin and scattered cancer cells in the abdominal cavity. This disease is most commonly associated with cancer of the appendix
; mucinous tumors of the ovary
have also been implicated, although in most cases ovarian involvement is favored to be a metastasis from an appendiceal or other gastrointestinal source. There have been efforts to rename or reclassify this as a condition that begins in the appendix as low grade mucinous neoplasm of the appendix with disseminated peritoneal adenomucinosis.
, other conditions may also be found, including disseminated peritoneal adenomucinosis (DPAM), peritoneal carcinomas, several mucinous tumors (mucinous adenocarcinoma, mucinous cystadenoma, and mucinous cystadenocarcinoma), as well as other disease states. Other primary sites that have been reported include colon
, rectum
, stomach
, gallbladder
, bile duct
s, small intestine
, urinary bladder
, lung
, breast
, fallopian tube
s and pancreas
. Symptoms may include abdominal or pelvic pain and/or bloating, distension, digestive disorders, weight changes, increased girth and infertility. Diagnosis is confirmed through pathology. Diagnostic tests may include CT scans, and the evaluation of tumor markers.
This disease is most often discovered during surgery for other conditions, e.g., hernia repair, following which an experienced pathologist can confirm the diagnosis. Due to the rarity of this disease, it is important to obtain an accurate diagnosis so that appropriate treatment may be obtained.
The primary tumour appears to arise from the MUC2
expressing goblet cell
s and most commonly from these cells in the appendix. The K-Ras (p53
) gene may be involved in the oncogensis.
to debulking
and intraperitoneal hyperthermic chemotherapy (IPHC) with cytoreductive surgery.
When appropriate, surgery may include intra peritoneal hyperthermic chemotherapy (IPHC), or early post-operative intraperitoneal chemotherapy (EPIC).
In situations where surgery is not required immediately, patients can be monitored via CT scans, tumor marker laboratory tests, and physical symptoms, to determine when, and if, surgery is warranted.
Although some surgical procedures may be rather extensive, patients can and do recover from surgery, and the majority of these patients can and do live productive lives.
In debulking, the surgeon attempts to remove as much tumor as possible. CRS or cytoreductive surgery involves surgical removal of the peritoneum
and any adjacent organs which appear to have tumor seeding. Since the mucus tends to pool at the bottom of the abdominal cavity, it is common to remove the ovaries, fallopian tubes, uterus
, and parts of the large intestine
. Depending upon the spread of the tumor, other organs might be removed, including but not limited to the gallbladder
, spleen
, and all or portions of the small intestine
and/or stomach
. For organs that cannot be removed safely (like the liver
), the surgeon strips off the tumor from the surface.
(typically the agent Mitomycin C) may be infused directly into the abdominal cavity to kill remaining microscopic cancerous cells. The heated chemotherapy (HIPEC) is perfused throughout the abdominal cavity for an hour or two as the last step in the surgery, or ports are installed to allow circulation and/or drainage of the chemicals for one to five days after surgery (EPIC). EPIC is typically given in multiple cycles for several months after surgery.
Systemic chemotherapy may be administered as additional or adjuvant treatment. Due to the increased availability of new chemotherapies developed for colon and colorectal cancer patients, some patients have experienced stability in tumor growth with systemic chemotherapy. Systemic chemotherapy is reserved for patients with advanced disease, recurrent disease, or disease that has spread to the lymph nodes or distant sites.
This disease may recur following surgery and chemotherapy. Periodic post operative CT scans
and tumor marker laboratory tests are used to monitor the disease for any tumor regrowth.
Additionally recent (2003) publications linking the MUC2 enzyme overexpression to the cell reproduction has launched research efforts into additional drug treatments.
In 2004 APCAN, a charity was formed by patients to fund research for the treatment of appendiceal cancer, from which the condition of pseudomyxoma peritonei originates.
In 2008, PMP patients throughout the U.S. formed PMP Research Foundation (PMPRF). PMPRF's mission is to fund promising research to improve treatment options and ultimately to find a cure for the disease.
PMPRF has retained NORD (National Organization for Rare Disorders) to administer its grants. To date, PMPRF has awarded 6 grants totaling $300,000 to prestigious organizations such as the Mayo Clinic, University of Pittsburgh Medical Center and other research centers in the UK and in Italy.
Prospective donors who wish to further PMP research can donate at www.pmpcure.org
An extensive listing of where donations can be sent directly to individual appendiceal cancer and pseudomyxoma peritonei research study programs is listed at www.pmppals.org
Future research into the treatment of PMP will necessitate an improved understanding of the molecular structure of the disease and targeted drug therapies that may interfere with the growth of mucinous tumor.
These patients, and family caregivers, found that their need for personal interaction was not being met via message boards, therefore they created the PMP Pals' Network, providing opportunities for patients and families to communicate directly, meet personally, and communicate via email,telephone or via Skype.
During the past thirteen years, the PMP Pals' Network of volunteers has expanded to include 48 countries and assists patients and their families in 12 languages.
The PMP Pals' Network hosts an annual international three day conference in which patients, their families and cancer treatment specialists from around the world gather to exchange resources. Information on opportunities for participation in this conference and other resource programs is available at the PMP Pals' Network website.
In August 2010 Dawn Green also set up the Pseudomyxoma Survivor website to offer a UK-based support network for PMP survivors, their care givers, and families. This site was set up in honour of a fellow PMP patient, Julie Stanton, who died after a three-year fight with the disease. The aims of the site are also to raise the profile of this rare disease and to raise funds to support the two UK PMP treatment centres at the Basingstoke and North Hampshire Hospital and The Christie Hospital Manchester. Many responses have already been received from around the world and the site now also has a Facebook page.
Tumor
A tumor or tumour is commonly used as a synonym for a neoplasm that appears enlarged in size. Tumor is not synonymous with cancer...
known for its production of mucin
Mucin
Mucins are a family of high molecular weight, heavily glycosylated proteins produced by epithelial tissues in most metazoans. Mucins' key characteristic is their ability to form gels; therefore they are a key component in most gel-like secretions, serving functions from lubrication to cell...
in the abdominal cavity. If left untreated, mucin will eventually build up to the point where it compresses vital structures: the colon
Colon (anatomy)
The colon is the last part of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body, and is the site in which flora-aided fermentation of unabsorbed material occurs. Unlike the small intestine, the colon does not play a...
, the liver, kidneys,stomach, spleen, pancreas, etc.
Unlike most cancer
Cancer
Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
s, this disease rarely spreads through the lymphatic system
Lymphatic system
The lymphoid system is the part of the immune system comprising a network of conduits called lymphatic vessels that carry a clear fluid called lymph unidirectionally toward the heart. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated...
or through the bloodstream. Therefore it is characterized by mucin and scattered cancer cells in the abdominal cavity. This disease is most commonly associated with cancer of the appendix
Appendix cancer
Appendix cancer or appendiceal cancer are rare malignancies of the vermiform appendix.-Types:The most common tumor of the appendix is carcinoid, but not all appendiceal carcinoids are malignant...
; mucinous tumors of the ovary
Ovary
The ovary is an ovum-producing reproductive organ, often found in pairs as part of the vertebrate female reproductive system. Ovaries in anatomically female individuals are analogous to testes in anatomically male individuals, in that they are both gonads and endocrine glands.-Human anatomy:Ovaries...
have also been implicated, although in most cases ovarian involvement is favored to be a metastasis from an appendiceal or other gastrointestinal source. There have been efforts to rename or reclassify this as a condition that begins in the appendix as low grade mucinous neoplasm of the appendix with disseminated peritoneal adenomucinosis.
History
The first case was described by Carl F. Rokitansky in 1842. Werth in 1884 coined the term pseudomyxoma peritonei, describing it in association with a mucinous ovarian tumour. In 1901 Frankel described the first case associated with a cyst of the appendix.Clinical
The overall incidence is ~1-2 per million per year. It is slightly more common in women than men (male:female ratio = 9:11). The median age at presentation is typically about 50 years with a range of 20-25 years. It may be diagnosed with a range of conditions. While the majority of these cases are associated with appendiceal carcinomasAppendix cancer
Appendix cancer or appendiceal cancer are rare malignancies of the vermiform appendix.-Types:The most common tumor of the appendix is carcinoid, but not all appendiceal carcinoids are malignant...
, other conditions may also be found, including disseminated peritoneal adenomucinosis (DPAM), peritoneal carcinomas, several mucinous tumors (mucinous adenocarcinoma, mucinous cystadenoma, and mucinous cystadenocarcinoma), as well as other disease states. Other primary sites that have been reported include colon
Colón
Colón is a Spanish and Portuguese surname, comparable to the Italian and Portuguese Colombo . It may refer to:People:* Cristóbal Colón, the Spanish language name for the explorer Christopher Columbus...
, rectum
Rectum
The rectum is the final straight portion of the large intestine in some mammals, and the gut in others, terminating in the anus. The human rectum is about 12 cm long...
, stomach
Stomach
The stomach is a muscular, hollow, dilated part of the alimentary canal which functions as an important organ of the digestive tract in some animals, including vertebrates, echinoderms, insects , and molluscs. It is involved in the second phase of digestion, following mastication .The stomach is...
, gallbladder
Gallbladder
In vertebrates the gallbladder is a small organ that aids mainly in fat digestion and concentrates bile produced by the liver. In humans the loss of the gallbladder is usually easily tolerated....
, bile duct
Bile duct
A bile duct is any of a number of long tube-like structures that carry bile.Bile, required for the digestion of food, is excreted by the liver into passages that carry bile toward the hepatic duct, which joins with the cystic duct to form the common bile duct, which opens into the intestine.The...
s, small intestine
Small intestine
The small intestine is the part of the gastrointestinal tract following the stomach and followed by the large intestine, and is where much of the digestion and absorption of food takes place. In invertebrates such as worms, the terms "gastrointestinal tract" and "large intestine" are often used to...
, urinary bladder
Urinary bladder
The urinary bladder is the organ that collects urine excreted by the kidneys before disposal by urination. A hollow muscular, and distensible organ, the bladder sits on the pelvic floor...
, lung
Lung
The lung is the essential respiration organ in many air-breathing animals, including most tetrapods, a few fish and a few snails. In mammals and the more complex life forms, the two lungs are located near the backbone on either side of the heart...
, breast
Breast
The breast is the upper ventral region of the torso of a primate, in left and right sides, which in a female contains the mammary gland that secretes milk used to feed infants.Both men and women develop breasts from the same embryological tissues...
, fallopian tube
Fallopian tube
The Fallopian tubes, also known as oviducts, uterine tubes, and salpinges are two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction...
s and pancreas
Pancreas
The pancreas is a gland organ in the digestive and endocrine system of vertebrates. It is both an endocrine gland producing several important hormones, including insulin, glucagon, and somatostatin, as well as a digestive organ, secreting pancreatic juice containing digestive enzymes that assist...
. Symptoms may include abdominal or pelvic pain and/or bloating, distension, digestive disorders, weight changes, increased girth and infertility. Diagnosis is confirmed through pathology. Diagnostic tests may include CT scans, and the evaluation of tumor markers.
This disease is most often discovered during surgery for other conditions, e.g., hernia repair, following which an experienced pathologist can confirm the diagnosis. Due to the rarity of this disease, it is important to obtain an accurate diagnosis so that appropriate treatment may be obtained.
The primary tumour appears to arise from the MUC2
MUC2
Mucin 2, oligomeric mucus/gel-forming, also known as MUC2, is a protein that in humans is encoded by the MUC2 gene.-Function:This gene encodes a member of the mucin protein family...
expressing goblet cell
Goblet cell
Goblet cells are glandular simple columnar epithelial cells whose sole function is to secrete mucin, which dissolves in water to form mucus. They use both apocrine and merocrine methods for secretion....
s and most commonly from these cells in the appendix. The K-Ras (p53
P53
p53 , is a tumor suppressor protein that in humans is encoded by the TP53 gene. p53 is crucial in multicellular organisms, where it regulates the cell cycle and, thus, functions as a tumor suppressor that is involved in preventing cancer...
) gene may be involved in the oncogensis.
Treatment
Treatment is variable, both due to its rarity and to its frequently slow-growing nature. Treatment ranges from watchful waitingWatchful waiting
Watchful waiting is an approach to a medical problem in which time is allowed to pass before medical intervention or therapy is used. During this time, repeated testing may be performed....
to debulking
Debulking
Debulking is the surgical removal of part of a malignant tumour which cannot be completely excised, so as to enhance the effectiveness of radiation or chemotherapy. It is used only in specific malignancies, as generally partial removal of a tumor is not considered a worthwhile intervention...
and intraperitoneal hyperthermic chemotherapy (IPHC) with cytoreductive surgery.
Surgical
Most commonly, treatment involves surgery, and, as of 2011, specifically CRS, or cytoreductive surgery, with IPHC, performed by specific specialists trained in treating this disease.When appropriate, surgery may include intra peritoneal hyperthermic chemotherapy (IPHC), or early post-operative intraperitoneal chemotherapy (EPIC).
In situations where surgery is not required immediately, patients can be monitored via CT scans, tumor marker laboratory tests, and physical symptoms, to determine when, and if, surgery is warranted.
Although some surgical procedures may be rather extensive, patients can and do recover from surgery, and the majority of these patients can and do live productive lives.
In debulking, the surgeon attempts to remove as much tumor as possible. CRS or cytoreductive surgery involves surgical removal of the peritoneum
Peritoneum
The peritoneum is the serous membrane that forms the lining of the abdominal cavity or the coelom — it covers most of the intra-abdominal organs — in amniotes and some invertebrates...
and any adjacent organs which appear to have tumor seeding. Since the mucus tends to pool at the bottom of the abdominal cavity, it is common to remove the ovaries, fallopian tubes, uterus
Uterus
The uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
, and parts of the large intestine
Large intestine
The large intestine is the third-to-last part of the digestive system — — in vertebrate animals. Its function is to absorb water from the remaining indigestible food matter, and then to pass useless waste material from the body...
. Depending upon the spread of the tumor, other organs might be removed, including but not limited to the gallbladder
Gallbladder
In vertebrates the gallbladder is a small organ that aids mainly in fat digestion and concentrates bile produced by the liver. In humans the loss of the gallbladder is usually easily tolerated....
, spleen
Spleen
The spleen is an organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve of blood in case of hemorrhagic shock...
, and all or portions of the small intestine
Small intestine
The small intestine is the part of the gastrointestinal tract following the stomach and followed by the large intestine, and is where much of the digestion and absorption of food takes place. In invertebrates such as worms, the terms "gastrointestinal tract" and "large intestine" are often used to...
and/or stomach
Stomach
The stomach is a muscular, hollow, dilated part of the alimentary canal which functions as an important organ of the digestive tract in some animals, including vertebrates, echinoderms, insects , and molluscs. It is involved in the second phase of digestion, following mastication .The stomach is...
. For organs that cannot be removed safely (like the liver
Liver
The liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...
), the surgeon strips off the tumor from the surface.
Chemotherapy
ChemotherapyChemotherapy
Chemotherapy is the treatment of cancer with an antineoplastic drug or with a combination of such drugs into a standardized treatment regimen....
(typically the agent Mitomycin C) may be infused directly into the abdominal cavity to kill remaining microscopic cancerous cells. The heated chemotherapy (HIPEC) is perfused throughout the abdominal cavity for an hour or two as the last step in the surgery, or ports are installed to allow circulation and/or drainage of the chemicals for one to five days after surgery (EPIC). EPIC is typically given in multiple cycles for several months after surgery.
Systemic chemotherapy may be administered as additional or adjuvant treatment. Due to the increased availability of new chemotherapies developed for colon and colorectal cancer patients, some patients have experienced stability in tumor growth with systemic chemotherapy. Systemic chemotherapy is reserved for patients with advanced disease, recurrent disease, or disease that has spread to the lymph nodes or distant sites.
This disease may recur following surgery and chemotherapy. Periodic post operative CT scans
Computed tomography
X-ray computed tomography or Computer tomography , is a medical imaging method employing tomography created by computer processing...
and tumor marker laboratory tests are used to monitor the disease for any tumor regrowth.
Additionally recent (2003) publications linking the MUC2 enzyme overexpression to the cell reproduction has launched research efforts into additional drug treatments.
Research & Related Non-Profits
Research for treatment is presently conducted at major institutions in the USA, Australia, Italy, England, France, Germany, Japan, the Netherlands, and Spain. Hundreds of published studies may be found in medical libraries and in online resources throughout the internet.In 2004 APCAN, a charity was formed by patients to fund research for the treatment of appendiceal cancer, from which the condition of pseudomyxoma peritonei originates.
In 2008, PMP patients throughout the U.S. formed PMP Research Foundation (PMPRF). PMPRF's mission is to fund promising research to improve treatment options and ultimately to find a cure for the disease.
PMPRF has retained NORD (National Organization for Rare Disorders) to administer its grants. To date, PMPRF has awarded 6 grants totaling $300,000 to prestigious organizations such as the Mayo Clinic, University of Pittsburgh Medical Center and other research centers in the UK and in Italy.
Prospective donors who wish to further PMP research can donate at www.pmpcure.org
An extensive listing of where donations can be sent directly to individual appendiceal cancer and pseudomyxoma peritonei research study programs is listed at www.pmppals.org
Future research into the treatment of PMP will necessitate an improved understanding of the molecular structure of the disease and targeted drug therapies that may interfere with the growth of mucinous tumor.
PMP Pals' Network
In 1998, patients, and family caregivers in the US, UK and Holland united to share resources including regarding medical options, research, clinical trials, preparation and recuperation from/for surgery and/or chemotherapy, assistance with health insurance and disability claims, and assisting patients with obtaining transportation and family lodging near cancer centers.These patients, and family caregivers, found that their need for personal interaction was not being met via message boards, therefore they created the PMP Pals' Network, providing opportunities for patients and families to communicate directly, meet personally, and communicate via email,telephone or via Skype.
During the past thirteen years, the PMP Pals' Network of volunteers has expanded to include 48 countries and assists patients and their families in 12 languages.
The PMP Pals' Network hosts an annual international three day conference in which patients, their families and cancer treatment specialists from around the world gather to exchange resources. Information on opportunities for participation in this conference and other resource programs is available at the PMP Pals' Network website.
In August 2010 Dawn Green also set up the Pseudomyxoma Survivor website to offer a UK-based support network for PMP survivors, their care givers, and families. This site was set up in honour of a fellow PMP patient, Julie Stanton, who died after a three-year fight with the disease. The aims of the site are also to raise the profile of this rare disease and to raise funds to support the two UK PMP treatment centres at the Basingstoke and North Hampshire Hospital and The Christie Hospital Manchester. Many responses have already been received from around the world and the site now also has a Facebook page.
External links
- PMP Pals Network: Volunteers, Research and Support for Patients and Their Families
- UK based support network and fundraising for PMP
- PMP Pals Network: Volunteers and Resources for Patients & Caregivers
- Funding for Appendix Cancer Research
- PMP Research Foundation: Funding for promising PMP research
- PMP Awareness Group
- Pseudomyxoma peritonei at the Open Directory ProjectOpen Directory ProjectThe Open Directory Project , also known as Dmoz , is a multilingual open content directory of World Wide Web links. It is owned by Netscape but it is constructed and maintained by a community of volunteer editors.ODP uses a hierarchical ontology scheme for organizing site listings...
- UK NHS PMP Treatment Information, The Christie Hospital
- Detailed technical article by Dr. Sugarbaker
- PMP surgical video from the University of UtahUniversity of UtahThe University of Utah, also known as the U or the U of U, is a public, coeducational research university in Salt Lake City, Utah, United States. The university was established in 1850 as the University of Deseret by the General Assembly of the provisional State of Deseret, making it Utah's oldest...
- The portal for Peritonectomy