Alveolar soft part sarcoma
Encyclopedia
Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft tissue sarcoma
, that grows slowly and whose cell of origin is unknown.
It arises mainly in children and young adults. ASPS can migrate (metastasize) into other parts of the body, typically the lungs and the brain
.
ASPS is a sarcoma
, and that indicates that this cancer initially arises from embryonic mesenchyme. (The fertilized egg divides and redivides forming a sphere. Early in embryogenesis, dimples appear in the poles of the sphere and burrow through the sphere forming an inner passage that will ultimately form the gut. Malignancies arising from cells that were originally part of the outer layer of the sphere and those that were part of the embryonic tunnel are termed carcinomas; malignancies arising from the cells between the outer layer and the inner burrow are termed sarcomas.) Typically, ASPS arises in muscles and deep soft tissue
of the thigh or the leg (lower extremities), but can also appear in the upper extremities (hands, neck, and head). While ASPS is a soft tissue sarcoma, it can also spread and grow inside the bones.
The term alveolar comes from the microscopic pattern, visible during the analysis of slides of ASPS under the microscope in histopathology
. The tumor cells seem to be arranged in the same pattern as the cells of the small air sacks (alveoli) in the lungs. However, this is just a structural similarity. ASPS was first described and characterized in 1952.
, about 9530 new cases of soft tissue sarcoma will be diagnosed in the USA in 2006. This predicts under 100 new cases of ASPS. Such low numbers of occurrence seriously impede the search for a cure by making it hard to gather any meaningful statistics about the disease. As a result, finding the best treatment option often involves making a lot of educated guesses.
in the area.
.
ASPS' histomorphologic features include an alveolar-like pattern at low magnification and the presence of large cells with abundant eosinophilic cytoplasm and eccentric nuclei. Calcifications are commonly present, as may be seen with slow growing neoplasms.
in the tumor cells. A piece of chromosome X breaks and is joined to chromosome 17. This translocation creates a fusion between two genes named ASPL
and TFE3
, which results in the formation of an aberrant protein (termed fusion protein
) that is not found in normal cells. Two sorts of fusions between chromosome X and chromosome 17 are found in different ASPS tumors: Type one, and type two. Dr. Ladanyi at Memorial Sloan-Kettering Cancer Center
, in New York
, has pioneered this work.
.
Soft tissue sarcoma
A soft-tissue sarcoma is a form of sarcoma that develops in connective tissue, though the term is sometimes applied to elements of the soft tissue that are not currently considered connective tissue.-Risk factors:...
, that grows slowly and whose cell of origin is unknown.
It arises mainly in children and young adults. ASPS can migrate (metastasize) into other parts of the body, typically the lungs and the brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
.
ASPS is a sarcoma
Sarcoma
A sarcoma is a cancer that arises from transformed cells in one of a number of tissues that develop from embryonic mesoderm. Thus, sarcomas include tumors of bone, cartilage, fat, muscle, vascular, and hematopoietic tissues...
, and that indicates that this cancer initially arises from embryonic mesenchyme. (The fertilized egg divides and redivides forming a sphere. Early in embryogenesis, dimples appear in the poles of the sphere and burrow through the sphere forming an inner passage that will ultimately form the gut. Malignancies arising from cells that were originally part of the outer layer of the sphere and those that were part of the embryonic tunnel are termed carcinomas; malignancies arising from the cells between the outer layer and the inner burrow are termed sarcomas.) Typically, ASPS arises in muscles and deep soft tissue
Soft tissue
In anatomy, the term soft tissue refers to tissues that connect, support, or surround other structures and organs of the body, not being bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes , and muscles, nerves and blood vessels .It is sometimes...
of the thigh or the leg (lower extremities), but can also appear in the upper extremities (hands, neck, and head). While ASPS is a soft tissue sarcoma, it can also spread and grow inside the bones.
The term alveolar comes from the microscopic pattern, visible during the analysis of slides of ASPS under the microscope in histopathology
Histopathology
Histopathology refers to the microscopic examination of tissue in order to study the manifestations of disease...
. The tumor cells seem to be arranged in the same pattern as the cells of the small air sacks (alveoli) in the lungs. However, this is just a structural similarity. ASPS was first described and characterized in 1952.
Epidemiology
ASPS is an extremely rare cancer. While sarcomas comprise about 1% of all newly diagnosed cancers, and 15% of all childhood cancers, ASPS comprises less than 1% of sarcomas. According to the American Cancer SocietyAmerican Cancer Society
The American Cancer Society is the "nationwide community-based voluntary health organization" dedicated, in their own words, "to eliminating cancer as a major health problem by preventing cancer, saving lives, and diminishing suffering from cancer, through research, education, advocacy, and...
, about 9530 new cases of soft tissue sarcoma will be diagnosed in the USA in 2006. This predicts under 100 new cases of ASPS. Such low numbers of occurrence seriously impede the search for a cure by making it hard to gather any meaningful statistics about the disease. As a result, finding the best treatment option often involves making a lot of educated guesses.
Primary diagnosis
ASPS may exist in the patient’s body for a long time before being diagnosed. It can grow large and push aside surrounding tissues for a long time before causing any discomfort. Therefore, ASPS symptoms may either be a painless swelling, or a soreness caused by compressed nerves or muscles, affecting the range of motionRange of motion
Range of motion , is the distance that a movable object may normally travel while properly attached to another object. It is also called range of travel, particularly when talking about mechanical devices and in mechanical engineering fields...
in the area.
Pathology
The definitive diagnosis of ASPS is based on its appearance under the microscope, i.e. its histomorphology, and presence of the characteristic chromosomal translocationChromosomal translocation
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes. A gene fusion may be created when the translocation joins two otherwise separated genes, the occurrence of which is common in cancer. It is detected on...
.
ASPS' histomorphologic features include an alveolar-like pattern at low magnification and the presence of large cells with abundant eosinophilic cytoplasm and eccentric nuclei. Calcifications are commonly present, as may be seen with slow growing neoplasms.
What causes ASPS
Chromosomal analysis of ASPS shows the breaking and joining of two chromosomesChromosomal translocation
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes. A gene fusion may be created when the translocation joins two otherwise separated genes, the occurrence of which is common in cancer. It is detected on...
in the tumor cells. A piece of chromosome X breaks and is joined to chromosome 17. This translocation creates a fusion between two genes named ASPL
ASPSCR1
Tether containing UBX domain for GLUT4 is a protein that in humans is encoded by the ASPSCR1 gene.-Further reading:...
and TFE3
TFE3
Transcription factor E3 is a protein that in humans is encoded by the TFE3 gene.-Interactions:TFE3 has been shown to interact with E2F3, Mothers against decapentaplegic homolog 3 and Microphthalmia-associated transcription factor.-Further reading:...
, which results in the formation of an aberrant protein (termed fusion protein
Fusion protein
Fusion proteins or chimeric proteins are proteins created through the joining of two or more genes which originally coded for separate proteins. Translation of this fusion gene results in a single polypeptide with functional properties derived from each of the original proteins...
) that is not found in normal cells. Two sorts of fusions between chromosome X and chromosome 17 are found in different ASPS tumors: Type one, and type two. Dr. Ladanyi at Memorial Sloan-Kettering Cancer Center
Memorial Sloan-Kettering Cancer Center
Memorial Sloan–Kettering Cancer Center is a cancer treatment and research institution founded in 1884 as the New York Cancer Hospital...
, in New York
New York
New York is a state in the Northeastern region of the United States. It is the nation's third most populous state. New York is bordered by New Jersey and Pennsylvania to the south, and by Connecticut, Massachusetts and Vermont to the east...
, has pioneered this work.
Prognosis
Although ASPS displays a relatively indolent course, the ultimate prognosis is poor and is often characterized by late metastasesMetastasis
Metastasis, or metastatic disease , is the spread of a disease from one organ or part to another non-adjacent organ or part. It was previously thought that only malignant tumor cells and infections have the capacity to metastasize; however, this is being reconsidered due to new research...
.
Promising clinical trials
- SunitinibSunitinibSunitinib is an oral, small-molecule, multi-targeted receptor tyrosine kinase inhibitor that was approved by the FDA for the treatment of renal cell carcinoma and imatinib-resistant gastrointestinal stromal tumor on January 26, 2006...
- CediranibCediranibCediranib , also known as AZD2171, is a potent inhibitor of vascular endothelial growth factor receptor tyrosine kinases....
new trial from England; adult doses have already been established, NCINCINCI can stand for:*National Cancer Institute*National Captioning Institute*Nordic Centre in India*National College of Ireland*Native Communications Inc - Aboriginal Public Broadcaster in Manitoba, Canada....
is currently working on doses for children.
External links
- Torres and Pollock Alveolar Soft Part Sarcoma (ASPS) ESUN (December 15, 2010)
- The Alliance Against Alveolar Soft Part Sarcoma Website dedicated to ASPS patients, information on treatments, etc.
- Cure Alveolar Soft Part Sarcoma International An international site with general information, a library, and a discussion group. Organized by patients, and their family and friends