Investigations

1st investigations to order

CT scan of primary tumour

Test
Result
Test

CT with intravenous contrast is preferred to evaluate primary retroperitoneal sarcomas, and gastrointestinal stromal tumours.[11][38]​​​[41]​​​

Result

heterogeneous mass, with central necrosis; patchy contrast enhancement

MRI of primary tumour

Test
Result
Test

MRI, with and without intravenous contrast, is the preferred imaging modality for the evaluation of primary soft-tissue tumours of the extremities, pelvis, and trunk.[11]​​[38][39]​​​​​ Contrast improves differentiation of benign from malignant soft-tissue masses. If available, diffusion-weighted MR imaging, dynamic contrast-enhanced perfusion imaging, and MR spectroscopy may also aid differentiation of benign from malignant masses.[38]

Result

heterogeneous mass, with central necrosis; patchy contrast enhancement; usually dark on T1, bright on T2

CT scan chest

Test
Result
Test

Given the risk of haematogenous spread from high-grade sarcoma to the lungs, chest CT without contrast is essential for accurate staging.[11]

If any primary lesion appears to be malignant according to imaging criteria, a chest CT scan should be mandatory for all patients.[41]​​[42][43]

Result

pulmonary metastases

biopsy for histology

Test
Result
Test

In order to establish the histological subtype and grade of a sarcoma, a core needle biopsy, fine needle biopsy, or fine needle aspiration should be done in all patients after diagnostic imaging.[11][39][44]

Pathology should be reviewed by an expert pathologist who has experience in reviewing sarcoma pathology. Pathologist might rely on immunohistochemistry, cytogenetics, and molecular genetic testing.[51]

Result

histological grade and type of sarcoma

Investigations to consider

abdominal/pelvic computed tomography

Test
Result
Test

Should be considered for patients with angiosarcoma, leiomyosarcoma, myxoid liposarcoma or epithelioid sarcoma, as well as soft-tissue sarcoma without definitive pathology.[11]

Result

metastases

magnetic Resonance Imaging (MRI) of total spine

Test
Result
Test

Should be considered for patients with myxoid cell liposarcoma due to a higher risk of metastasis to the spine compared with other soft-tissue sarcomas.[11]

Result

metastases

fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT)

Test
Result
Test

May be useful for initial staging of soft-tissue sarcoma at any site.[11] FDG-PET/CT scan can be considered for retroperitoneal/intra-abdominal tumours.[11] May help determine a site for biopsy.

Result

metastases or recurrence

endoscopy

Test
Result
Test

Those presenting with gastrointestinal bleeding should be referred for endoscopy as part of the work-up.

Result

tumour

full blood count (FBC)

Test
Result
Test

An FBC should be performed for all patients prior to chemotherapy.

Patients presenting with gastrointestinal bleeding should have an FBC and coagulation profile performed to determine if there is any anaemia or clotting abnormality requiring correction.

Result

normal; may show anaemia in gastrointestinal bleeding associated with gastrointestinal stromal tumours

coagulation studies

Test
Result
Test

Patients presenting with gastrointestinal bleeding should have a full blood count and coagulation profile performed to determine if there is any anaemia or clotting abnormality requiring correction.

Result

normal; may show abnormality in patients with gastrointestinal bleeding

urea

Test
Result
Test

Renal function should be tested in all patients prior to chemotherapy.

Result

normal

creatinine

Test
Result
Test

Renal function should be tested in all patients prior to chemotherapy.

Result

normal

liver function tests (LFTs)

Test
Result
Test

Liver function should be tested in all patients prior to chemotherapy.

Result

normal prior to chemotherapy; may be elevated if hepatic involvement or spread

echocardiogram or multi-gated acquisition (MUGA) scan

Test
Result
Test

In some cases, where treatment may involve cumulative doses of doxorubicin, formal evaluation of cardiac function (e.g., by gated blood pool scan or echocardiogram) may be indicated.[46][47][48]

This may particularly apply to patients receiving curative treatments for the paediatric sarcomas (rhabdomyosarcoma and Ewing's sarcoma).[49][50]

Result

uneven distribution of technetium in the heart and/or decreased ejection fraction during a MUGA scan is indicative of heart disease; an echocardiogram can evaluate multiple cardiac parameters, including ejection fraction, which may be diminished in patients with heart disease

ancillary techniques

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Result
Test

Diagnosis of soft-tissue sarcoma with microscopic examination of histology sections is the gold standard, however several ancillary techniques may be useful in supporting the diagnosis including immunohistochemistry, classical cytogenetics, electron microscopy and molecular genetics:[11]

Molecular testing uses multiple techniques, including next-generation sequencing (NGS) - based methods (including DNA and RNA sequencing) which can determine patient eligibility for clinical trials, identify actionable mutations that may not have been targeted previously, and select patients who may benefit from immunotherapy.[11]

If the physician or pathologist is suspicious of a translocation-associated sarcoma, then appropriate gene rearrangement testing should be carried out to accurately diagnose the sarcoma subtype.[45]

Result

specific genetic syndromes

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