Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma: The need for agreement in assessment FISH analysis to avoid diagnostic errors

Matteo Brunelli, Michelangelo Fiorentino, Stefano Gobbo, Nicola Sperandio, Liang Cheng, Paolo Cossu-Rocca, Diego Segala, John Eble, Brett Delahunt, Giacomo Novara, Vincenzo Ficarra, Guido Martignoni

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Abnormalities of the locus chromosome 3p and the entire chromosome 3 are involved in the cancerogenesis of clear cell renal carcinoma and may be detected by interphase fluorescence in situ hybridization (interphase FISH). We observed a variable detection rate of chromosome 3p/3 abnormalities in different series of clear cell renal carcinoma. Therefore, we focused on problematic issues when performing analysis on routinely available formalin-fixed and paraffin embedded tissue. A group of studies encountered a single approach to chromosome 3p detection, by using probe/s to map different codes of the short arm 3p without a control of the entire chromosome 3. Deletion of chromosome 3p and monosomy of chromosome 3 ranged from 38% to 100% in clear cell renal carcinoma. Cut-off values for the threshold were chosen randomly or obtained by calculation of the mean value plus 1 or 2 or 3 standard deviations. Loss of chromosome 3p was assessed either as the percentage of single signals on the total number of nuclei, or applying a double approach with corrections of control chromosome 3. Moreover, cut off values were sometimes arbitrarily corrected with the findings from normal adjacent renal parenchyma. A consensus of experts in the field is needed in order to define the best methodological approach and the appropriate threshold in assessment 3p deletion when interphase FISH is performed in clear cell renal carcinoma. This harbours relevant diagnostic and therapeutic implications, at light also of targeted therapies recently available to clear cell renal carcinoma.

Original languageEnglish
Pages (from-to)1207-1213
Number of pages7
JournalHistology and Histopathology
Volume26
Issue number9
StatePublished - Sep 2011

Fingerprint

Chromosomes, Human, Pair 3
Diagnostic Errors
Renal Cell Carcinoma
Cytogenetics
Chromosomes
Interphase
Fluorescence In Situ Hybridization
Monosomy
Chromosome Aberrations
Paraffin
Formaldehyde
Kidney
Light
Therapeutics

Keywords

  • Chromosome 3
  • Chromosome 3p
  • Clear cell renal carcinoma
  • Fluorescence in situ hybridization (FISH)
  • Interphase

ASJC Scopus subject areas

  • Histology
  • Pathology and Forensic Medicine

Cite this

Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma : The need for agreement in assessment FISH analysis to avoid diagnostic errors. / Brunelli, Matteo; Fiorentino, Michelangelo; Gobbo, Stefano; Sperandio, Nicola; Cheng, Liang; Cossu-Rocca, Paolo; Segala, Diego; Eble, John; Delahunt, Brett; Novara, Giacomo; Ficarra, Vincenzo; Martignoni, Guido.

In: Histology and Histopathology, Vol. 26, No. 9, 09.2011, p. 1207-1213.

Research output: Contribution to journalArticle

Brunelli, M, Fiorentino, M, Gobbo, S, Sperandio, N, Cheng, L, Cossu-Rocca, P, Segala, D, Eble, J, Delahunt, B, Novara, G, Ficarra, V & Martignoni, G 2011, 'Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma: The need for agreement in assessment FISH analysis to avoid diagnostic errors', Histology and Histopathology, vol. 26, no. 9, pp. 1207-1213.
Brunelli, Matteo ; Fiorentino, Michelangelo ; Gobbo, Stefano ; Sperandio, Nicola ; Cheng, Liang ; Cossu-Rocca, Paolo ; Segala, Diego ; Eble, John ; Delahunt, Brett ; Novara, Giacomo ; Ficarra, Vincenzo ; Martignoni, Guido. / Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma : The need for agreement in assessment FISH analysis to avoid diagnostic errors. In: Histology and Histopathology. 2011 ; Vol. 26, No. 9. pp. 1207-1213.
@article{0c03c53187fd4d618e8045290819a4c2,
title = "Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma: The need for agreement in assessment FISH analysis to avoid diagnostic errors",
abstract = "Abnormalities of the locus chromosome 3p and the entire chromosome 3 are involved in the cancerogenesis of clear cell renal carcinoma and may be detected by interphase fluorescence in situ hybridization (interphase FISH). We observed a variable detection rate of chromosome 3p/3 abnormalities in different series of clear cell renal carcinoma. Therefore, we focused on problematic issues when performing analysis on routinely available formalin-fixed and paraffin embedded tissue. A group of studies encountered a single approach to chromosome 3p detection, by using probe/s to map different codes of the short arm 3p without a control of the entire chromosome 3. Deletion of chromosome 3p and monosomy of chromosome 3 ranged from 38{\%} to 100{\%} in clear cell renal carcinoma. Cut-off values for the threshold were chosen randomly or obtained by calculation of the mean value plus 1 or 2 or 3 standard deviations. Loss of chromosome 3p was assessed either as the percentage of single signals on the total number of nuclei, or applying a double approach with corrections of control chromosome 3. Moreover, cut off values were sometimes arbitrarily corrected with the findings from normal adjacent renal parenchyma. A consensus of experts in the field is needed in order to define the best methodological approach and the appropriate threshold in assessment 3p deletion when interphase FISH is performed in clear cell renal carcinoma. This harbours relevant diagnostic and therapeutic implications, at light also of targeted therapies recently available to clear cell renal carcinoma.",
keywords = "Chromosome 3, Chromosome 3p, Clear cell renal carcinoma, Fluorescence in situ hybridization (FISH), Interphase",
author = "Matteo Brunelli and Michelangelo Fiorentino and Stefano Gobbo and Nicola Sperandio and Liang Cheng and Paolo Cossu-Rocca and Diego Segala and John Eble and Brett Delahunt and Giacomo Novara and Vincenzo Ficarra and Guido Martignoni",
year = "2011",
month = "9",
language = "English",
volume = "26",
pages = "1207--1213",
journal = "Histology and Histopathology",
issn = "0213-3911",
publisher = "Histology and Histopathology",
number = "9",

}

TY - JOUR

T1 - Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma

T2 - The need for agreement in assessment FISH analysis to avoid diagnostic errors

AU - Brunelli, Matteo

AU - Fiorentino, Michelangelo

AU - Gobbo, Stefano

AU - Sperandio, Nicola

AU - Cheng, Liang

AU - Cossu-Rocca, Paolo

AU - Segala, Diego

AU - Eble, John

AU - Delahunt, Brett

AU - Novara, Giacomo

AU - Ficarra, Vincenzo

AU - Martignoni, Guido

PY - 2011/9

Y1 - 2011/9

N2 - Abnormalities of the locus chromosome 3p and the entire chromosome 3 are involved in the cancerogenesis of clear cell renal carcinoma and may be detected by interphase fluorescence in situ hybridization (interphase FISH). We observed a variable detection rate of chromosome 3p/3 abnormalities in different series of clear cell renal carcinoma. Therefore, we focused on problematic issues when performing analysis on routinely available formalin-fixed and paraffin embedded tissue. A group of studies encountered a single approach to chromosome 3p detection, by using probe/s to map different codes of the short arm 3p without a control of the entire chromosome 3. Deletion of chromosome 3p and monosomy of chromosome 3 ranged from 38% to 100% in clear cell renal carcinoma. Cut-off values for the threshold were chosen randomly or obtained by calculation of the mean value plus 1 or 2 or 3 standard deviations. Loss of chromosome 3p was assessed either as the percentage of single signals on the total number of nuclei, or applying a double approach with corrections of control chromosome 3. Moreover, cut off values were sometimes arbitrarily corrected with the findings from normal adjacent renal parenchyma. A consensus of experts in the field is needed in order to define the best methodological approach and the appropriate threshold in assessment 3p deletion when interphase FISH is performed in clear cell renal carcinoma. This harbours relevant diagnostic and therapeutic implications, at light also of targeted therapies recently available to clear cell renal carcinoma.

AB - Abnormalities of the locus chromosome 3p and the entire chromosome 3 are involved in the cancerogenesis of clear cell renal carcinoma and may be detected by interphase fluorescence in situ hybridization (interphase FISH). We observed a variable detection rate of chromosome 3p/3 abnormalities in different series of clear cell renal carcinoma. Therefore, we focused on problematic issues when performing analysis on routinely available formalin-fixed and paraffin embedded tissue. A group of studies encountered a single approach to chromosome 3p detection, by using probe/s to map different codes of the short arm 3p without a control of the entire chromosome 3. Deletion of chromosome 3p and monosomy of chromosome 3 ranged from 38% to 100% in clear cell renal carcinoma. Cut-off values for the threshold were chosen randomly or obtained by calculation of the mean value plus 1 or 2 or 3 standard deviations. Loss of chromosome 3p was assessed either as the percentage of single signals on the total number of nuclei, or applying a double approach with corrections of control chromosome 3. Moreover, cut off values were sometimes arbitrarily corrected with the findings from normal adjacent renal parenchyma. A consensus of experts in the field is needed in order to define the best methodological approach and the appropriate threshold in assessment 3p deletion when interphase FISH is performed in clear cell renal carcinoma. This harbours relevant diagnostic and therapeutic implications, at light also of targeted therapies recently available to clear cell renal carcinoma.

KW - Chromosome 3

KW - Chromosome 3p

KW - Clear cell renal carcinoma

KW - Fluorescence in situ hybridization (FISH)

KW - Interphase

UR - http://www.scopus.com/inward/record.url?scp=80053215358&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80053215358&partnerID=8YFLogxK

M3 - Article

C2 - 21751152

AN - SCOPUS:80053215358

VL - 26

SP - 1207

EP - 1213

JO - Histology and Histopathology

JF - Histology and Histopathology

SN - 0213-3911

IS - 9

ER -