History and exam

Key diagnostic factors

common

mass

Extremity soft-tissue sarcomas commonly present with a mass, which is usually not painful.

upper/lower gastrointestinal bleed

Found with gastrointestinal stromal tumors.

neuropathic pain

Particularly seen with neural tumors, and can be elicited by percussion. May also be seen with tumors invading the brachial or pelvic nerve plexi or any nerve outflow foramina.

increased abdominal girth

Found in intra-abdominal sarcomas.

features of acute abdomen

Caused by gastrointestinal stromal tumors.

Other diagnostic factors

common

unilateral extremity swelling

Caused by sarcomas in the extremity.

weight loss

Associated with advanced malignancy.

fatigue

Associated with advanced malignancy.

anorexia

Associated with advanced malignancy.

abdominal bloating, discomfort, pain

Associated with intra-abdominal malignancy.

Risk factors

strong

genetically inherited syndromes

Neurofibromatosis Type 1 (NF1) also known as von Recklinghausen disease is an autosomal dominant condition caused by mutations NF1-gene, which codes for a protein called neurofibromin.[17]​ Patients with NF1 syndrome have an 8% to 13% lifetime risk of developing malignant peripheral nerve sheath tumor, an aggressive, genetically complex soft-tissue sarcoma that comprises 2% of all sarcomas.[18][19][20]

Li-Fraumeni syndrome is a rare autosomal dominant disorder caused by mutations in the TP53 gene (17p 13.1) which codes for p53 (tumor suppressor gene) has been associated with an increased risk of cancer, including sarcoma, of approximately 50% by age 40 and 90% by age 60 in mutation carriers.[21][22]

An increased risk of sarcomas, both bone and soft tissue, has been demonstrated in patients who have had a familial retinoblastoma, caused by inherited mutations in the RB1 gene.[23]

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline mutation of adenomatous polyposis coli. A 15% absolute lifetime risk of developing desmoid tumors in patient FAP has been demonstrated.[24]​ Evidence suggests that the incidence of FAP among patients with desmoid tumors is 7.5%, with 85% of these FAP associated desmoid tumors diagnosed in the setting of known FAP.[25]

radiation

Therapeutic radiation is an important environmental factor that increases the risk of sarcoma, it is commonly associated with angiosarcoma, undifferentiated pleomorphic sarcoma, and leiomyosarcoma.[26][27]

human herpesvirus-8 (HHV-8) infection

Human herpesvirus 8 (HHV8), also known as Kaposi sarcoma-associated herpesvirus (KSHV), is one of the few pathogens recognized as direct carcinogen, being involved in the pathogenesis of Kaposi sarcoma, primary effusion lymphoma and multicentric Castleman disease.[28][29][30]

congenital disorders

Beckwith-Wiedemann syndrome is a mostly sporadic disorder due to faulty gene imprinting, resulting in overgrowth and developmental anomalies. There is a 7.5% to 10% incidence of cancer, including rhabdomyosarcoma, myxoma, fibromas, and hamartomas.[31]

weak

male sex

One retrospective population based study reported that incidence rates of soft-tissue sarcoma are higher for men than women (8.21 and 5.5, respectively, per 100,000 in the 2017 to 2018 cohort). Higher incidence rates were consistently demonstrated for the men in each age group, approaching a statistically significant difference for ≥80-year-olds (18.37, 95% confidence interval [CI]=12.88, 23.86 per 100,000 for men compared with 5.80, 95% CI=3.53, 8.07 for women).[14]

lymphedema

There is a connection between long standing chronic lymphedema and angiosarcoma, known as Stewart-Treves syndrome. Evidence suggests it occurs in 0.5% of patients who have undergone radical mastectomy with axillary node dissection, followed by adjuvant radiation therapy.[32][33][34]

history of exposure to chemical carcinogens

Occupational exposure to industrial materials including vinyl chloride monomer, iatrogenic exposure to colloidal thorium dioxide (thorotrast) for radiologic examinations in the past, chronic arsenic ingestion, and androgen have been associated with an increased risk of sarcoma.[35][36]

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