The usefulness of cytogenetic analysis in fine needle aspirates for the histologic subtyping of sarcomas

Abstract

Conventional cytogenetic analysis performed from open biopsy tissue samples may be a useful adjunct for the histologic subtyping of bone and soft tissue sarcomas. However, its diagnostic utility in fine needle aspiration biopsy (FNAB) specimens is unclear. We retrospectively reviewed 24 consecutive FNAB bone and soft tissue sarcoma specimens, procured from 1995 to 2003, in which aspirated material was obtained for cytogenetic analysis. The study sample included eight Ewing sarcomas, six synovial sarcomas, five rhabdomyosarcomas, two myxoid liposarcomas, and one each of myxoid chondrosarcoma, osteosarcoma, and atypical lipoma. Cytogenetic analysis confirmed the t(X;18) in all six synovial sarcomas and the t(11;22) in three Ewing sarcomas. The t(2;13) was strongly suggested in one alveolar rhabdomyosarcoma. For two of these cases (both of which were synovial sarcomas), cytogenetic analysis was necessary for definitive diagnosis. While the positive cytogenetic results were supportive in the remainder, all were initially and accurately subtyped based on cytomorphology and/or immunohistochemistry. Cytogenetic analysis was noncontributory (eg no growth) in 14 sarcoma cases, but excluding the case of atypical lipoma, this did not preclude the rendering of an accurate diagnosis. Cytogenetic analysis can be performed on FNAB specimens from bone and soft tissue sarcomas and may be a useful diagnostic aid in difficult cases. However, when cell block material is available for immunohistochemistry, the majority of such cases are successfully subtyped.

Fine Needle Aspiration for Clinical Triage of Extremity Soft Tissue Masses

“…In the indeterminate group, there were six spindle cell lesions, six myxoid-containing tumors, and one well-differentiated liposarcoma. Determining the nature of masses in these categories with FNAC can be difficult and incisional biopsy may be necessary [14,20,25,37,39]. Pathologists should not be reluctant to request more tissue or to establish minimal criteria for specimen adequacy based on number of unobscured cells per slide [10,25].…”

“…Because the reliability of NCB compared with FNAC is controversial, NCB was not used for definitive verification of FNAC for the purposes of this study [4,8]. Subtyping and cytomorphologic groupings were based on the recommendations of Kilpatrick et al [14,15] and Singh et al [29] and Fletcher et al for the Association of Directors of Anatomic and Surgical Pathology (ADASP) [10] (Table 1).…”

Treatment of Synovial Sarcoma in Children

“…The use of fine-needle aspiration of the tumor and molecular genetic study as standard diagnostic methods allows for prompt establishment of diagnosis and therapy start [14]. Multiple research groups have proven the prognostic value of primary tumor size [7;10;11;4;9].…”

Zytologische Sarkomdiagnostik

“…offene Biopsien beurteilt. Bis auf einige technische Einzelheiten stehen ihm grundsätzlich die gleichen Zusatzuntersuchungen zur Verfü-gung [10,11,15,17]. Insbesondere der Einsatz der Zellblocktechnik lässt den scheinbaren Widerspruch zwischen einer FNP und einer Stanzbiopsie in vielen Fällen schwinden -die Bearbeitung, die diagnostischen Kriterien und die zur Verfügung stehenden Methoden sind identisch [30,32].…”