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Fibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous
bone tissue. One or more bones can be affected.
Causes
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
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.
Etiology
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.
Description
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.
Cause
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
Background
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
challenging.
Causes
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
contraceptives.[19]
The proliferative response of fibroblasts to estrogen has been established. [20]
Benign fibrous histiocytoma (superficial)
Definition
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:
Abdomen
Lungs
Muscles
Kidneys.
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.
Leiomyoma
Background
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.
Causes
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]
Leiomyosarcoma