Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies

Vieira, Joana; Henrique, Rui; Ribeiro, Franclim R.; Barros-Silva, João D.; Peixoto, Ana; Santos, Catarina; Pinheiro, Manuela; Costa, Vera L.; Soares, M. A.; Oliveira, Jorge; Jerónimo, Carmen; Teixeira, Manuel R.

doi:10.1002/gcc.20805

Cited by 40 publications

(24 citation statements)

References 38 publications

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“…This kind of ancillary techniques is currently not routinely performed, with the exception of TFE3 break-apart FISH assays for the identification of translocation RCC. Nevertheless, FISH and CGH array have been proven to be feasible on biopsy samples and could be considered as an option in the future to improve the accuracy of biopsy diagnosis [46,47].…”

Section: Discussionmentioning

confidence: 98%

Interpretation of needle biopsies of the kidney for investigation of renal masses

Lhermitte

Leval

2012

Virchows Arch

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The development of new therapeutic options for renal tumors has lead to the need of a pretherapeutic diagnosis for an increasing proportion of patients presenting with a renal mass. This need is particularly important for a small, incidentally discovered renal mass (less than 4 cm) as it can be a benign lesion in a significant percentage of cases. Recent studies have shown that needle biopsy is an accurate and safe method allowing for a precise histopathological diagnosis of the mass in most cases. The aims of the biopsy are (1) to assess the benign or malignant nature of the lesion, (2) to assess the primary or secondary nature of the lesion, and (3), in case of a primary malignancy, to determine histological prognostic factors, such as the tumor type. This review, based on the most recent literature and our own experience, is intended to provide a practical approach to the diagnosis, relying on appropriate morphologic assessment and the use of immunohistochemistry.

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Section: Discussionmentioning

confidence: 98%

Interpretation of needle biopsies of the kidney for investigation of renal masses

Lhermitte

Leval

2012

Virchows Arch

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“…Bacterial artificial chromosome (BAC) clones targeting the 5 0 (RP11-137J13) and 3 0 (RP11-24A11) regions of ERG were selected using the UCSC Human Genome Browser and obtained from the BACPAC Resources Center (Oakland, California, USA). BAC DNA was extracted, amplified, labeled, and prepared for hybridization as previously reported (Vieira et al, 2010). Adequate mapping and probe specificity of all BAC clones was confirmed by hybridization onto normal human metaphases.…”

Section: Fishmentioning

confidence: 99%

Relative 8q gain predicts disease‐specific survival irrespective of the TMPRSS2‐ERG fusion status in diagnostic biopsies of prostate cancer

Barros-Silva

Ribeiro

Rodrigues

et al. 2011

Genes Chromosomes & Cancer

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Screening tools have greatly improved prostate cancer (PCa) detection, but the disease course is heterogeneous, and standard clinicopathological parameters do not fully discriminate aggressive from indolent tumors. To evaluate the prognostic value of the TMPRSS2-ERG fusion gene combined with chromosome arm 8q relative gain in diagnostic biopsies of PCa, we studied a consecutive series of 200 diagnostic needle biopsies from patients with 10-year disease-specific survival data. TMPRSS2-ERG fusion gene status and relative 8q gain were assessed by fluorescent in situ hybridization in whole formalin fixed paraffin-embedded biopsies. The TMPRSS2-ERG fusion gene was detected in 43.5% of PCa and was associated with lower Gleason score (P = 0.045), whereas relative 8q gain was present in 48% of PCa and was associated in high-Gleason score (P < 0.001). ERG rearrangement alone was not associated with clinical outcome, whereas relative 8q gain predicted worse disease-specific survival in PCa patients both with and without the TMPRSS2-ERG fusion gene (P < 0.001), independently of Gleason score, clinical stage, and treatment modality. We conclude that relative 8q gain in diagnostic needle biopsies is a poor prognostic factor independent of the TMPRSS2-ERG fusion gene status and of standard clinicopathological parameters.

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“…Like other types of HTT, CGH needs high-quality DNA that can be easily obtained by FNC. Consequently, FNC has been used to harvest cells from different tumors to perform CGH [80,81,82], whereas no experiences on LN FNC CGH are so far available.…”

Section: High-throughput Technologies-based Arraysmentioning

confidence: 99%

Lymph Node Fine-Needle Cytology: Beyond Flow Cytometry

Peluso

Ieni²,

Mignogna³

et al. 2016

Acta Cytologica

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Lymph node (LN) fine-needle cytology (FNC) coupled with flow cytometry immunophenotyping provides relevant information for the diagnosis of non-Hodgkin lymphoma (NHL). Numerous studies have shown FNC samples to be suitable for different molecular procedures; in this review, some of the molecular procedures most commonly employed for NHL are briefly described and evaluated in this perspective. Fluorescence in situ hybridization and chromogenic in situ hybridization are briefly described. Polymerase chain reaction (PCR)-based assays are used to identify and quantify mutations and translocations, namely immunoglobulin (IGH) and T-cell receptor rearrangements by clonality testing and IGVH somatic hypermutations either by Sanger sequencing, single-strand conformational polymorphisms or RT-PCR strategies. High-throughput technologies (HTT) encompass numerous and different diagnostic tools that share the capacity of multiple molecular investigation and sample processing in a fast and reproducible manner. HTT includes gene expression profiling, comparative genomic hybridization, single-nucleotide polymorphism arrays and next-generation sequencing technologies. A brief description of these tools and their potential application to LN FNC is reported. The challenge for FNC will be to achieve new knowledge and apply new technologies to FNC, exploiting its own basic qualities.

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Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies

Cited by 40 publications

References 38 publications

Interpretation of needle biopsies of the kidney for investigation of renal masses

Interpretation of needle biopsies of the kidney for investigation of renal masses

Relative 8q gain predicts disease‐specific survival irrespective of the TMPRSS2‐ERG fusion status in diagnostic biopsies of prostate cancer

Lymph Node Fine-Needle Cytology: Beyond Flow Cytometry

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