Value of combined cytology and molecular information in the diagnosis of soft tissue tumors

Abstract

The diagnosis of a soft tissue tumor (STT) is a complex process that requires a multidisciplinary team consisting of a medical oncologist, a radiologist, a pathologist, and a molecular biologist. The combination of this information gives highly accurate results. Fine‐needle aspiration in this setting is one of the most performed techniques for obtaining, in a noninvasive way, optimal material for morphological, immunohistochemical, and molecular purposes. On the other hand, an accurate tumor diagnosis is a dynamic process, as evidenced by the constant modifications of international putative classifications, which are more and more based on molecular aberrations (2013 World Health Organization classification). In the future, STT classification will certainly be a hybrid of morphology and molecular data and, consequently, will be very “useful” for cytology. Cancer (Cancer Cytopathol) 2015;123:141–151. © 2014 American Cancer Society.

Bone and soft tissue sarcomas in cerebrospinal fluid and effusion: A 20‐year review at our institution

“…Embryonal RMS is characterized by a consistent loss of heterozygosity for closely linked loci at chromosome 11p15,64 whereas most alveolar RMS has a t(2;13)(q36.1;q14.11) translocation resulting in the breakpoint within the PAX3 gene on chromosome 2 and within the FOXO1 gene on chromosome 13. 12 In a minority of cases, a variant t(1;13)(p36.13;q14.11) translocation, which juxtaposes the PAX7 gene with the FOX01 gene, is also involved in the pathogenesis of alveolar RMS. Our 6 cases of alveolar RMS were positive for FOXO1 (FKHR) gene rearrangement on the biopsy specimens.…”

Molecular diagnostic techniques in cytopathology: From the bench to the patient's bedside

“…In respect of tumor treatment, the 2013 CAP guidelines recommended the use of cell‐block sections for molecular testing in lung tumors, but many authors have highlighted the need for considering also smears or liquid‐based cytology specimens . In fact, these guidelines are due to be updated, and the draft released for public comment in 2016 recommends the use of “either cell blocks or other cytologic preparations as suitable specimens for lung cancer biomarker molecular testing.” Other tumor types could also benefit from the use of cytological samples for ancillary tests . Previous studies have highlighted the role of molecular testing on cytological samples in metastatic colorectal cancer ( KRAS mutation), gastrointestinal stromal tumors ( PDGFRA mutation), or metastatic melanoma ( BRAF mutation) .…”

“…Minimally invasive techniques such as endoscopic ultrasound (EUS) or endobronchial ultrasound‐guided fine‐needle aspiration cytology (EBUS‐FNAC) can avoid unnecessary and more aggressive diagnostic procedures. FNAC is a safe, cost‐effective, and rapid tool for establishing a diagnosis and it allows an estimation of volume of tumor tissue available for subsequent ancillary studies . However, cytological samples are heterogeneous and no standardized processing protocols have been published .…”

Suitability of the CellientTM cell block method for diagnosing soft tissue and bone tumors

“…Imaging, in particular with computed tomography (CT) and magnetic resonance imaging (MRI), provides insight into the location, size, margins, and tissue composition and heterogeneity of STB tumors. Although cytology has been applied in just a few sarcoma centers, the primary diagnosis of STB tumors is usually made on histological (needle or open) biopsies, since these malignancies are morphologically heterogeneous and several histological types have overlapping microscopic features. Moreover, for a conclusive diagnosis of STB tumors, additional immunohistochemistry (IHC) and molecular pathology (fluorescent in situ hybridization (FISH), polymerase chain reaction (PCR), and next generation sequencing (NGS)) often have to be administered, requiring special expertise.…”