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Desmoid tumors may be classified as extra-abdominal, abdominal wall, or intra-abdominal (the last is more common in patients with FAP). It is thought that the lesions may develop in relation to estrogen levels or trauma/operations.
A 3' APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients. FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively.
Desmoid tumours of the breast are rare. Although benign, they can mimic breast cancer
on physical examination, mammography and breast ultrasound and can also be locally invasive. Even
though they occur sporadically, they can also be seen as a part of Gardner's syndrome. A high index of suspicion and a thorough triple examination protocol is necessary to detect rare lesions like a desmoid tumour which can masquerade as breast carcinoma. Desmoid tumour of the breast may present a difficulty in the diagnosis especially where imaging studies are not conclusive and suggest a more ominous diagnosis.
Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors. Desmoid tumors can arise in virtually any part of the body, and are tumors that arise from cells called fibroblasts, which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing. These tumors tend to occur in women in their thirties, but can occur in anyone at any age. They can be either relatively slow-growing or malignant. However, aggressive fibromatosis is locally aggressive. When they are aggressive they can cause life-threatening problems or even death when they compress vital organs such as intestines, kidney, lungs, blood vessels, nerves etc. Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.
Histologically they resemble very low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery; in one study, two-thirds of patients with desmoid tumors had a history of prior abdominal surgery.
Risk factors for desmoid disease amongst FAP patients include female sex, a 3' APC mutation, a positive family history and a history of previous abdominal surgery.
SCTC exhibits a highly aggressive phenotype, thus prognosis of that malignancy is extremely poor. The overall survival is less than 1 year in most of cases.
Prognosis depends on how early the cancer is discovered and treated. For the least aggressive grade, about 90% of patients survive more than five years after diagnosis. People usually have a good survival rate at the low grade volume of cancer. For the most aggressive grade, only 10% of patients will survive one year.
Tumors may recur in the future. Follow up scans are extremely important for chondrosarcoma to make sure there has been no recurrence or metastasis, which usually occurs in the lungs.
Treatment is mainly surgical; radiotherapy or chemotherapy is usually an indication of relapse. Head and neck desmoid fibromatosis is a serious condition due to local aggression, specific anatomical patterns and the high rate of relapse. For children surgery is particularly difficult, given the potential for growth disorders.
Treatment includes prompt radical excision with a wide margin and/or radiation. Despite their local infiltrative and aggressive behavior, mortality is minimal to nonexistent for peripheral tumours. In intra-abdominal fibromatosis associated with Familial adenomatous polyposis (FAP), surgery is avoided if possible due to high rates of recurrence within the abdomen carrying significant morbidity and mortality. Conversely, for intra-abdominal fibromatosis without evidence of FAP extensive surgery may still be required for local symptoms, but the risk of recurrence is low.
The cause is unknown. Patients may have a history of enchondroma or osteochondroma. A small minority of secondary chondrosarcomas occur in patients with Maffucci syndrome and Ollier disease.
It has been associated with faulty isocitrate dehydrogenase 1 and 2 enzymes, which are also associated with gliomas and leukemias.
Other names include "musculoaponeurotic fibromatosis," referring to the tendency of these tumors to be adjacent to and infiltrating deep skeletal muscle, aggressive fibromatosis and "desmoid tumor." A clear difference should be made between intra-abdominal and extra-abdominal localizations. Fibromatosis is a different entity from neurofibromatosis.
Breeds that may be more commonly affected include the English Cocker Spaniel, German Shepherd Dog, Alaskan Malamute, Dachshund, and Springer Spaniel. It is a disease of middle-age to older dogs and even though early reports described spayed females as more commonly affected, multiple recents studies have shown no gender overrepresentation.
An anal sac adenocarcinoma is an uncommon and aggressive malignant tumor found in dogs that arises from the apocrine glandular tissue of anal sac. The disease exists in cats as well, but is much less common in that species. They are the second most common cancerous cause of hypercalcaemia (high serum calcium) in dogs, following T-cell lymphoma.
In a Meta-analysis study to conglomerate findings regarding 28 published papers including 158 patients presenting SNUC following up with patients for an average of 14 months showed that at the time of last follow up 25% of patients were alive with no evidence of the disease, 22.4% were alive with presence of the disease, and 52.6% were deceased due to the disease.
It occurs in all adult age groups. While the majority of patients are between 40 and 59 years old, age predilection is much less pronounced than in noninflammatory breast cancer. The overall rate is 1.3 cases per 100000, black women (1.6) have the highest rate, Asian and Pacific Islander women the lowest (0.7) rates.
Most known breast cancer risk predictors do not apply for inflammatory breast cancer. It may be slightly associated with cumulative breast-feeding duration.
Salivary duct carcinoma, abbreviated SDC, is a rare type of aggressive cancer that arises from the salivary glands. It is predominantly seen in men and, generally, has a poor prognosis. Other high grade carcinomas can mimic SDC. About 40-60% of SDC arise in pleomorphic adenomas. Most, if not all, SDCs express androgen receptor by immunohistochemistry. Therapeutically relevant genetic alterations include "ERBB2/Her2" amplification, "PIK3CA" and/or "HRAS" mutations.
Although not specific to one mode of management, lesion size, patient sex, or follow-up, the recurrence rate for chondroblastoma is relatively high, and has been shown in select studies to be dependent upon the anatomical location, method of treatment, and biological aggressiveness of the initial lesion. The rate of recurrence is highly variable, ranging between 5% and 40%, as study results are generally inconclusive. However, local recurrence for long bone lesions is around 10%, with chondroblastoma in flat bones having higher recurrence and more complications. Recurrences are more common in cases involving an open epiphyseal plate where they can be attributed to inadequate curettage to avoid damage. Lesions of the proximal femur are particularly problematic because of difficulties accessing the femoral head for complete excision. Chondroblastoma may recur in the soft tissue surrounding the initial lesion, especially in the case of incomplete curettage. Recurrences have been shown to occur between 5 months and 7 years after initial treatment and are generally treated with repeat curettage and excision of affected soft-tissue. No histological differences have been seen between recurrent and non-recurrent chondroblastomas.
Rarely, more aggressive chondroblastomas can metastasize. The most common location for metastases is the lung, with some cases also involving secondary bone sites, soft tissue, skin, or the liver. The prevalence of metastatic chondroblastoma, however, is quite low and is believed to be less than 1%. There is no relationship established between metastasis and previous surgery, non-surgical treatment, anatomical location, or patient age. Survival of patients with metastatic lesions is better when the metastases are surgically resectable, as chemotherapy has been shown to have little to no benefit. Prognosis is bleak for patients with malignant chondroblastomas that are resistant to surgery, radiation, and chemotherapy. However, patients with resectable metastases have survived for several years following diagnosis.
While recurrence is the most common complication of chondroblastoma other issues include post-surgery infection, degenerative joint disease, pathological fractures, failure of bone grafts, pre-mature epiphyseal closure, functional impairment, and malignant transformation. Complications are less common in patients presenting with chondroblastoma in accessible areas. Overall, patients with more classical chondroblastoma (appearing in long bones, typical presentation) have better prognoses than patients with atypical chondroblastoma (flat bones, skull, etc.).
Depending on the grade of the sarcoma, it is treated with surgery, chemotherapy and/or radiotherapy.
In the US, Osteoblastomas account for only 0.5-2% of all primary bone tumors and only 14% of benign bone tumors making it a relatively rare form of bone tumor.
In regards to morbidity and mortality, conventional osteoblastoma is a benign lesion with little associated morbidity. However, the tumor may be painful, and spinal lesions may be associated with scoliosis and neurologic manifestations. Metastases and even death have been reported with the controversial aggressive variant, which can behave in a fashion similar to that of osteosarcoma. This variant is also more likely to recur after surgery than is conventional osteoblastoma.
Osteoblastoma affects more males than it does females, with a ratio of 2-3:1 respectively. Osteoblastoma can occur in persons of any age, although the tumors predominantly affect the younger population (around 80% of these tumors occurs in persons under the age of 30). No racial predilection is recognized.
It usually presents in the vertebral column or long bones. Approximately 40% of all osteoblastomas are located in the spine. The tumors usually involve the posterior elements, and 17% of spinal osteoblastomas are found in the sacrum. The long tubular bones are another common site of involvement, with a lower extremity preponderance. Osteoblastoma of the long tubular bones is often diaphyseal, and fewer are located in the metaphysis. Epiphyseal involvement is extremely rare. Although other sites are rarely affected, several bones in the abdomen and extremities have been reported as sites of osteoblastoma tumors.
A hemangiopericytoma (HPC) is a type of soft tissue sarcoma that originates in the pericytes in the walls of capillaries. When inside the nervous system, although not strictly a meningioma tumor, it is a meningeal tumor with a special aggressive behavior. It was first characterized in 1942.
The goblet cell carcinoid, abbreviated GCC and also known as crypt cell carcinoma and neuroendocrine tumour with goblet cell differentiation, is a rare biphasic gastrointestinal tract tumour that consists of a neuroendocrine component and a conventional carcinoma, histologically arising from Paneth cells.
The underlying mechanism is unknown, however, Gelbard et al. studied 12 oncogenes or known tumor suppressor gene “hotspots” where mutations in these regions are known to cause other types of neurocarcinomas. They also studied Single nucleotide polymorphisms (SNPs) located in Vascular endothelial growth factor (VEGF) in order to find sites for finely targeted therapeutics.
Spectroscopy-based research done in this study identified 95 common mutations within the 12 hotspots. Of the 95 SNPs none presented a genotype that was an activating mutation.
There are no known risk factors that have been identified specific to the disease. The tumor appears to arise from the primitive cells of childhood, and is considered a childhood cancer.
Research has indicated that there is a chimeric relationship between desmoplastic small-round-cell tumor (DSRCT) and Wilms' tumor and Ewing's sarcoma. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the small cell tumors.
DSRCT is associated with a unique chromosomal translocation t(11;22)(p13:q12) resulting in an EWS/WT1 transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth.
The EWS/WT1 translocation product targets ENT4. ENT4 is also known as PMAT.
GCCs have an aggressive course compared to other appendiceal neuroendocrine tumours.
The overall 5-year survival rate of anaplastic thyroid cancer has been given as 7% or 14%, although the latter has been criticized as being overestimated.
Treatment of anaplastic-type carcinoma is generally palliative in its intent for a disease that is rarely cured and almost always fatal, with worse prognosis associated with large tumours, distant metastases, acute obstructive symptoms, and leukocytosis. Death is attributable to upper airway obstruction and suffocation in half of patients, and to a combination of complications of local and distant disease, or therapy, or both in the remainder.
Anaplastic thyroid cancer is extremely aggressive; in most cases death occurs in less than 1 year as a result of aggressive local growth and compromise of vital structures in the neck. ATC in most series has a median survival of 4 to 5 months from the time of diagnosis, with rare long-term survivors.
Gardner syndrome, also known as Gardner's syndrome or familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.
Desmoid tumors are fibrous tumors which usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to Gardner syndrome commonly appear in the thyroid, liver and kidneys. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon.
The syndrome was first described in 1951. There is no cure at this time, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.
The prognosis for DSRCT remains poor. Prognosis depends upon the stage of the cancer. Because the disease can be misdiagnosed or remain undetected, tumors frequently grow large within the abdomen and metastasize or seed to other parts of the body.
There is no known organ or area of origin. DSRCT can metastasize through lymph nodes or the blood stream. Sites of metastasis include the spleen, diaphragm, liver, large and small intestine, lungs, central nervous system, bones, uterus, bladder, genitals, abdominal cavity, and the brain.
A multi-modality approach of high-dose chemotherapy, aggressive surgical resection, radiation, and stem cell rescue improves survival for some patients. Reports have indicated that patients will initially respond to first line chemotherapy and treatment but that relapse is common.
Some patients in remission or with inoperable tumor seem to benefit from long term low dose chemotherapy, turning DSRCT into a chronic disease.
The cause of osteoblastoma is unknown. Histologically, osteoblastomas are similar to osteoid osteomas, producing both osteoid and primitive woven bone amidst fibrovascular connective tissue, the difference being that osteoblastoma can grow larger than 2.0 cm in diameter while osteoid osteomas cannot. Although the tumor is usually considered benign, a controversial aggressive variant has been described in the literature, with histologic features similar to those of malignant tumors such as an osteosarcoma.
Squamous-cell thyroid carcinoma (SCTC) is rare malignant neoplasm of thyroid gland which shows tumor cells with distinct squamous differentiation. The incidence of SCTC is less than 1% out of thyroid malignancies.