What are the relative rates of efficacy and accuracy of various biopsy modalities in BSTTs?

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Fine needle versus core versus open biopsy

Introduction

Patients with suspected bone and soft tissue tumours (BSTTs) require accurate diagnostic biopsy prior to definitive treatment. Various biopsy techniques which are used include fine needle aspiration (FNA) cytology, needle core biopsy (NCB) and open (incisional) biopsy. Open biopsy was long heralded as the ‘gold standard’ in the diagnosis of BSTTs, but with the advent of less invasive procedures of FNA and NCB, use of this more invasive procedure has diminished.[1] FNA and NCB are less expensive, less invasive, have a lower complication rate than open biopsy and generally do not lead to modification of the definitive surgical procedure.[2] FNA and NCB allow for multiple passes to be performed in various directions increasing accuracy of subtyping, although theoretically this may impart a greater risk of recurrence or tumour spread.[3]

The diagnostic benefits of various biopsy techniques have been reviewed in predominately retrospective studies including studies assessing open biopsy alone,[4] of FNA alone[3][5][6][7][8][9][10][11][12][13][14][15][16][17], of NCB alone,[2][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36] or biopsies performed in various combinations[1][37][38][39][40][41][42][43][44] Rougraff et al[45] performed an extensive evidence based literature search on soft tissue biopsy modalities.

The ubiquitous view in the literature is that all techniques should ideally be carried out in a multidisciplinary team setting.[19][21][28][36]

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Rates of efficacy/accuracy of the various biopsy modalities

Although open biopsy is regarded as the “diagnostic standard to which all alternative biopsy techniques must be compared”, it may still be non-representative and technically poor.[23] The reported diagnostic accuracy lies between 88% and 100%.[4][12][42][43][44] Higher accuracy may be achieved with intraoperative frozen section assessment.[12][44] Open biopsy allows the advantage of more tissue to be harvested to enable a broad range of ancillary studies. However, it requires general anaesthetic, care is needed to avoid an inappropriately placed incision which widens the required definitive resection size and it has a reported complication rate of 12-17% including haematoma, infection, wound dehiscence and tumour fungation.[2] However, the risk of complication may not be as high if performed by an experienced surgeon.[4]

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Fine needle aspiration

FNA has the advantage of low cost, quick turnaround time and low incidence of complication.[6][10] It has been considered to be a first-line investigation,[5] as a simple method of patient triage[6] or as a screening test.[14] Studies tend to report accuracy with regard to general parameters such as benign versus malignant, as FNA lacks the ability to assess tissue architecture.[8] As a result, sarcoma grading methods including the FNCLCC and NCI systems, which require tissue morphology as a whole, may not be applicable[10] and limited cytological grading based on cellular pleomorphism is often employed. Reported accuracy rates for detecting sarcoma are as low as 60.5%[6] to as high as 98% for categorisation as benign versus malignant, rather than giving a definitive diagnosis.[39] Correct classification/subtyping of soft tumours may only be achievable in 50-60% of cases because of the inherent heterogeneity of soft tissue tumour types.[7][17] Significantly, absence of tissue architecture in an FNA sample makes assessment difficult and subtyping less accurate than tissue biopsy.[16]

Myxoid lesions may have the highest propensity to fall into a “suspicious for malignancy” category, whilst spindle cell lesions appear to be the most difficult in which to render a specific diagnosis.[14] In bone lesions, the limitation of FNA has been the inability to obtain adequate diagnostic material from intraosseous, sclerotic and low-grade tumours.[9] As the diagnosis of a primary bone tumour is often made radiologically, FNA may be a confirmatory rather than diagnostic test in that setting.[10] It may be an efficient method in the diagnosis of primary osteosarcoma in conjunction with radiological and clinical data.[8] In one study, chondrosarcoma caused greatest diagnostic difficulty and Ewing sarcoma the least.[13] Fibroosseous lesions are also associated with sampling error.[12] Specific sites such as the hand, where a limited number of common soft tissue tumours occur, may result in higher diagnostic accuracy.[3]

Ancillary studies can increase the accuracy of FNA, which may include cell-block for morphology, immunohistochemical and molecular studies and flow-cytometric immunophenotyping.[6][9][11][44][17] Successful FNA is also highly dependent upon the experience of the cytopathologist and close collaboration with the orthopaedic surgeon.[16] CT-guided FNA accuracy rates may be lower than NCB because it is more operator and cytopathologist dependent and less material may be obtained for ancillary studies.[1]

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Needle core biopsy

NCB, which may also be performed blind or with image guidance, is touted as the ‘new gold standard’ in the diagnosis of musculoskeletal tumours including of the spine.[30][31] It is reported to be equally effective in BSTTs, but this may depend on site. One study reported only 33% accuracy in abdominal wall tumours.[19] Conversely, high accuracy was reported in a study on the diagnosis of chest wall sarcomas.[46] Overall accuracy is lower but comparable to that of open biopsy,[44][45] and ranges from 71%[1] to near 100%.[20] It may be less accurate in soft tissue compared to bone as bone tumours often show specific imaging features, lacking in soft tissue tumours.[26][29] In bone, diagnostic yield may be higher for lytic than sclerotic lesions.[35] Accurate tumour subtyping and grading is achieved from 45.6%[44] to or exceeding 90%.[25][40][26][31][2][34][41] Grading is also more accurate in high-grade tumours.[38][29]

NCB may show higher accuracy in grading than open biopsies if they are performed in a number of directions as they may sample more representative areas of a tumour, in contrast to sampling a single area in an incision biopsy.[24] Adequate NCB sampling is also important to avoid misclassification due to tumour heterogeneity.[25] Rimondi[30] heralded NCB as the new gold standard in biopsy of the spine, although false negative results were recorded in cervical lesions. Jelenek[39] recorded a high accuracy for both sclerotic and non-sclerotic lesions in primary bone tumours, but noted difficulty with cystic lesions. Diagnostic accuracy of NCB of sclerotic lesions of the spine was only 76% compared to 93% in lytic and mixed sclerotic/lytic lesions in a study by Lis.[40]

Factors which have been shown to optimise the diagnostic yield of NCB, include the use of contrast-enhanced ultrasound[21] and PET-scan guidance[22] to detect the areas of a tumour which are most representative (i.e. with the worst histological features). In particular, myxoid lesions, which may cause diagnostic difficulty by NCB[42] have showed improved diagnostic accuracy with contrast-enhanced ultrasound guidance.[21] Vacuum assisted NCB showed overall 96% diagnostic accuracy compared to 99% by open biopsy in a study by Mohr.[43] NCB adequacy by frozen section assessment in one study increased accuracy rate to near 100%.[20] The diagnostic yield of CT or ultrasound guided NCB of BSTTs was shown to be greater with higher tissue yield by using longer needle cores and a minimum of 3 and 4 cores for the diagnosis of BSTTs respectively.[35] In ultrasound guided NCB of soft tissue tumours, technical factors such as the number of cores, NCB gauge, experience of operator or site of biopsy had no influence on diagnostic yield when performed in a specialist department.[27]

Some studies have compared the use of both FNA and NCB taken in the same procedure, or assessed their accuracy together.[37][38][1][39][40][41] Hau[1] had a diagnostic accuracy by FNA and NCB of 63% and 74% respectively. They found that pelvic lesions had the most diagnostic accuracy (81%), where as there was low accuracy of 61% for any lesion located in the spine. For both FNA and NCB, more tissue is required for diagnosis in low grade and benign lesions than for high-grade malignant tumours.[41] Kasraelian[44] performed FNA then NCB followed by open biopsy in a single procedure, the latter assessed by frozen section in a series of 57 patients. NCB was more accurate than FNA in determining malignancy, exact diagnosis and grade, and open biopsy was more accurate than both.[47]

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Evidence summary and recommendations

Evidence summary Level References
FNA has a lower diagnostic accuracy than NCB, which itself has a lower diagnostic accuracy than open biopsy, but a rate that is never-the-less acceptable in light of it being a simple, less costly method, with a low complication rate. All techniques have higher accuracy if assessed at the time of collection by a pathologist, and if ancillary techniques are utilised where relevant. IV [44], [45]
Evidence-based recommendationQuestion mark transparent.png Grade
Biopsy technique of choice is needle core biopsy (NCB) performed in a specialist sarcoma unit setting with appropriate multidisciplinary input.
D


Practice pointQuestion mark transparent.png

In essence, generous numbers of needle cores of adequate length, performed with the aid of imaging, in various directions within the tumour, allows for tumour heterogeneity. In most cases this results in accurate diagnosis, grading and harvesting of adequate tissue for appropriate ancillary diagnostic techniques and, in appropriate circumstances, tissue banking. Refer to the Royal College of Pathologists of Australasia Soft Tissue Tumour Resection Structured Reporting Protocol 1st Edition (2011)

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References

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Appendices

Further resources