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Fibrous dysplasia

Fibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous
bone tissue. One or more bones can be affected.
Fibrous dysplasia occurs in childhood, usually between ages 3 - 15. The condition does
not run in families (not hereditary), and the cause is unknown.
Fibrosarcoma is a tumor of mesenchymal cell origin that is composed of malignant
fibroblasts in a collagen background. It can occur as a soft-tissue mass or as a primary or
secondary bone tumor.
Fibrosarcoma, like other soft-tissue sarcomas, has no definite cause. Current research
indicates that many sarcomas are associated with genetic mutations. The more common
genetic defects include allele loss, point mutations, and chromosome translocations. See
Pathophysiology for a discussion of associated conditions.
Giant Cell Tumor of Bone
Giant cell tumor of bone (GCT) is a rare, aggressive non-cancerous (benign) tumor. It
generally occurs in adults between the ages of 20 and 40 years. Giant cell tumor of bone
is very rarely seen in children or in adults older than 65 years of age. Giant cell tumors
occur in approximately one person per million per year.
Giant cell tumors are named for the way they look under the microscope. Many "giant
cells" are seen. They are formed by fusion of several individual cells into a single, larger
complex. Many bone tumors and other conditions (including normal bone) contain giant
cells. Giant cell tumor of bone is given its characteristic appearance by the constant
finding of a large number of these cells existing in a typical background.
Most bone tumors occur in the flared portion near the ends of long bone (metaphysis),
but giant cell tumor of bone occurs almost exclusively in the end portion of long bones
next to the joints (epiphysis). Giant cell tumors of bone most frequently occur around the
knee joint in the lower end of the thighbone (femur) or the upper end of the shinbone
(tibia). Other common locations include the wrist (lower end of the lower arm bone), the
hip (upper end of the thighbone), the shoulder (upper end of the upper arm bone), and
lower back (connection of the spine and pelvis).
In rare cases, this tumor may spread to the lungs.
Giant cell tumors of bone occur spontaneously. They are not known to be associated with
trauma, environmental factors, or diet. They are not inherited. In rare cases, may be
associated with hyperparathyroidism.
Desmoid Tumor

Desmoid tumors are cytologically bland fibrous neoplasms originating from the
musculoaponeurotic structures throughout the body. The term desmoid, coined by Muller
in 1838, is derived from the Greek word desmos, which means tendonlike.
Desmoid tumors often appear as infiltrative, usually well-differentiated, firm overgrowths
of fibrous tissue, and they are locally aggressive. The synonym aggressive fibromatosis
describes the marked they cellularity and aggressive local behavior. This course and the
tendency for recurrence make the treatment of these relatively rare fibrous tumors
The cause of desmoid tumors is uncertain and may be related to trauma or hormonal
factors, or they may have a genetic association.
The familial polyposis gene on chromosome 5 has been extensively studied. [3, 16]
An endocrine etiology is suggested. Desmoid tumors most commonly appear in young
women during or after pregnancy. The tumors regress during menopause [17] and after
tamoxifen treatment.[18] Desmoid tumors may regress after exposure to oral
The proliferative response of fibroblasts to estrogen has been established. [20]
Benign fibrous histiocytoma (superficial)

Storiform pattern of bland spindle cells and foamy histiocytes centered in dermis with
possible extension to subcutis. Variable hemosiderin, multinucleated giant cells, chronic
inflammatory cells and pseudoepitheliomatous hyperplasia
Histiocytomas are tumours arising from primitive mesenchymal cells which occur
predominantly in soft tissues, most often in relation to skeletal muscle. They contain
macrophages or histiocytes.
These tumours generally occur in adults and are most common on the legs of young to
middle-aged women.

The benign fibrous histiocytomas occur predominantly in the skin. These benign tumours
are named depending on the predominant pattern and location:
the most common form of fibrous histiocytoma is the dermatofibroma
other forms of benign fibrous histiocytoma are fibroxanthomas, histiocytomas,
xanthogranulomas, sclerosing haemangiomas, and giant cell tumours of tendon sheath
Malignant Fibrous Histiocytoma?

Malignant fibrous histiocytoma is a rare condition in which there is a tumor of the bone or
soft tissues. The disease is the most common soft tissue cancer that is diagnosed in older
adults, and is often diagnosed in people between the ages of 50 and 70.

Malignant fibrous histiocytoma usually appears in the legs or the arms; however, cases
have developed in the:


Causes and Risk Factors

No one knows the exact cause or causes of malignant fibrous histiocytoma; however,
research has shown that people with certain risk factors are more likely than others to
develop the condition. A risk factor is anything that increases a person's chances of
developing a disease.

Examples of risk factors for malignant fibrous histiocytoma include:

Having previously undergone radiation treatment for cancer

Having a history of Paget's disease
Having a history of sickle cell disease, non-Hodgkin's lymphoma, Hodgkin's lymphoma, or
multiple myeloma.
Rhabdomyosarcoma is a cancerous (malignant) tumor of the muscles that are attached
to the bones.
It can occur in many places in the body. The most common sites are the structures of the
head and neck, the urogenital tract, and the arms or legs.
Rhabdomyosarcoma is the most common soft tissue tumor in children.
The cause of rhabdomyosarcoma is unknown. It is a rare tumor with only several hundred
new cases per year throughout the United States.

Some children with certain birth defects are at an increased risk, and some families have
a gene mutation that elevates risk. However, the great majority of children with
rhabdomyosarcoma do not have any known risk factors.
Leiomyomas are benign soft tissue neoplasms that arise from smooth muscle; they were
first described by Virchow [1] in 1854. The hereditary form, which causes, multiple
leiomyomas, was originally noted by Kloepfer et al [2] in 1958. They can develop wherever
smooth muscle is present. Malignant transformation probably does not occur. A 2006
report[3] of a cutaneous leiomyosarcoma with myxoid alteration in a scar of a
piloleiomyoma that had been excised 3 years previously probably does not represent a
case of malignant transformation.
Recent research has revealed the location of the gene for transmission of dominantly
inherited, multiple cutaneous piloleiomyomas associated with uterine leiomyomas in
female family members.
The gene was linked to band 1q42.3-q43. Haplotype construction and recombination
analysis narrowed the locus to an approximately 14-centromere interval located between
D1S517 on the centromeric side and D1S2842 on the telomeric side.
As reported by Alam et al,[10] the locus is named MCUL1 for multiple cutaneous and
uterine leiomyomata 1.
Studies of an extended family narrowed the locus further to a region of 4.55-7.17
centromere on chromosome 1. This gene encodes for fumarate hydratase (FH), an
enzyme of the tricarboxylic acid cycle, which acts as a tumor suppressor. In families with
multiple cutaneous and uterine leiomyomata (MCUL) and hereditary leiomyomatosis and
renal cell cancer (HLRCC), FH missense mutations often occurred in fully conserved
residues and in residues functioning in the substrate binding A-site, substrate-binding Bsite, or subunit-interacting region. All missense mutations in these families were
associated with decreased enzyme activity, suggesting that the tumor suppressor role of
FH is related to its enzymatic activity. [11]
A study of 108 affected individuals, including 46 probands and 62 affected relatives
revealed that highly penetrant FH mutations underlie MCUL. Of women with FH
mutations, 69% had both skin and uterine leiomyomas, 15% had only skin leiomyomas,
and 7% had only uterine leiomyomas. [12] Uterine leiomyomas not associated with skin
leiomyomas were associated with the G354R FH mutation.
Cutaneous manifestations of HLRCC range from absent to severe cutaneous leiomyomas.
Wei et al[13] have so far identified 31 different germline FH mutations in 56 families with
HLRCC. Six additional FH mutations have been described among Dutch and Spanish
families with MCUL.[14]
A 2006 report described a unique clonal translocation (7;8)(p13;q11.2) in a leiomyoma of
the vulva.[15]

A leiomyosarcoma belongs to a group of cancers called soft tissue sarcomas. Sarcomas

are cancers that develop in the supporting or connective tissues of the body, such as
muscle, fat, nerves, blood vessels, bone and cartilage. Soft tissue sarcomas are rare.
Approximately 1,2002,000 people will be diagnosed with a sarcoma each year in the UK.
Most people with leiomyosarcoma will be over the age of 50.
Leiomyosarcomas are one of the more common types of sarcoma to occur in adults. They
start from cells in a type of muscle tissue called smooth muscle.
Smooth muscles are involuntary muscles that we have no control over. They are found in
the walls of muscular organs like the heart and stomach as well as the walls of blood
vessels throughout the body.
This means that leiomyosarcomas can start anywhere in the body. Common places are
the walls of the womb (uterus), the limbs and the digestive system, particularly the
Causes of leiomyosarcoma
The exact causes of leiomyosarcoma are unknown, and research is ongoing to try to find
out as much as possible about them.
Very rarely, soft tissue sarcomas may occur in an area that has previously been treated
with radiotherapy for another type of cancer. The sarcoma will not usually develop until
at least 10 years after the radiotherapy treatment. Improvements in targeting
radiotherapy mean that the risk of developing a sarcoma after radiotherapy treatment is
very small.
Exposure to some types of chemicals may increase the risk of developing some
sarcomas. The chemicals include vinyl chloride (used for making plastics), some types of
herbicides (weedkillers) and dioxins.
Synovial Sarcoma
Synovial sarcoma constitutes 8-10% of all sarcomas and most commonly affects adults in
the third to fifth decades of life. This malignancy usually involves the extremities (as
demonstrated in the images below), especially the lower extremities around the knees.
Synovial sarcoma is frequently misdiagnosed as a benign condition because of its often
small size, slow growth, and well-defined appearance