Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma

Gabriella Sozzi, Fabiola Minoletti, Monica Miozzo, Laura Sard, Katia Musso, Alberto Azzarelli, Marco A. Pierotti, Silvana Pilotti

Research output: Contribution to journalArticle

Abstract

Soft tissue sarcomas are a heterogeneous group of malignant tumors displaying a wide range of clinical presentations, morphological features, and biological behaviors. These characteristics and the recent development of differentiated treatment regimens for the different types of soft tissue sarcomas call for refined histological classification using additional ancillary approaches such as cytogenetic and molecular genetic analyses. We coupled classical cytogenetics and fluorescent in situ hybridization (FISH) on both metaphases and interphase nuclei to show the feasibility of this approach to characterize tumor type-specific chromosome rearrangements in soft tissue sarcomas of different histotype. In 35 cases analyzed, we detected the presence of specific chromosome rearrangements such as t(X; 18) in synovial sarcoma (SS), t(12;16) in myxoid liposarcoma (MLS), t(11;22) in peripheral primitive neuroectodermal tumors (pPNET), t(2;13) in alveolar rhabdomyosarcoma (ARMS) and ring chromosomes in dermatofibrosarcoma protuberans (DFSP). In several cases, the presence of these cytogenetic rearrangements was of help for a differential diagnosis. The FISH analysis using painting probes not only confirmed the cytogenetic results but also allowed the identification of tumor-specific chromosome changes in those cases presenting low mitotic index or with poor quality chromosomes. Moreover, in the absence of analysable metaphases, FISH was successfully performed on interphase nuclei. Taken together, these results indicate both the diagnostic and clinical relevance of a molecular cytogenetic analysis in the study of soft tissue sarcomas.

Original languageEnglish
Pages (from-to)134-142
Number of pages9
JournalHuman Pathology
Volume28
Issue number2
DOIs
Publication statusPublished - 1997

Fingerprint

Fluorescence In Situ Hybridization
Cytogenetics
Sarcoma
Chromosomes
Interphase
Metaphase
Myxoid Liposarcoma
Peripheral Primitive Neuroectodermal Tumors
Alveolar Rhabdomyosarcoma
Dermatofibrosarcoma
Ring Chromosomes
Synovial Sarcoma
Neoplasms
Paintings
Mitotic Index
Cytogenetic Analysis
Molecular Biology
Differential Diagnosis

Keywords

  • cytogenetics
  • diagnosis
  • FISH
  • interphase nuclei
  • metaphase
  • sarcoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma. / Sozzi, Gabriella; Minoletti, Fabiola; Miozzo, Monica; Sard, Laura; Musso, Katia; Azzarelli, Alberto; Pierotti, Marco A.; Pilotti, Silvana.

In: Human Pathology, Vol. 28, No. 2, 1997, p. 134-142.

Research output: Contribution to journalArticle

Sozzi, Gabriella ; Minoletti, Fabiola ; Miozzo, Monica ; Sard, Laura ; Musso, Katia ; Azzarelli, Alberto ; Pierotti, Marco A. ; Pilotti, Silvana. / Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma. In: Human Pathology. 1997 ; Vol. 28, No. 2. pp. 134-142.
@article{bafe33f1edac4681a192ac2a728c1e8e,
title = "Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma",
abstract = "Soft tissue sarcomas are a heterogeneous group of malignant tumors displaying a wide range of clinical presentations, morphological features, and biological behaviors. These characteristics and the recent development of differentiated treatment regimens for the different types of soft tissue sarcomas call for refined histological classification using additional ancillary approaches such as cytogenetic and molecular genetic analyses. We coupled classical cytogenetics and fluorescent in situ hybridization (FISH) on both metaphases and interphase nuclei to show the feasibility of this approach to characterize tumor type-specific chromosome rearrangements in soft tissue sarcomas of different histotype. In 35 cases analyzed, we detected the presence of specific chromosome rearrangements such as t(X; 18) in synovial sarcoma (SS), t(12;16) in myxoid liposarcoma (MLS), t(11;22) in peripheral primitive neuroectodermal tumors (pPNET), t(2;13) in alveolar rhabdomyosarcoma (ARMS) and ring chromosomes in dermatofibrosarcoma protuberans (DFSP). In several cases, the presence of these cytogenetic rearrangements was of help for a differential diagnosis. The FISH analysis using painting probes not only confirmed the cytogenetic results but also allowed the identification of tumor-specific chromosome changes in those cases presenting low mitotic index or with poor quality chromosomes. Moreover, in the absence of analysable metaphases, FISH was successfully performed on interphase nuclei. Taken together, these results indicate both the diagnostic and clinical relevance of a molecular cytogenetic analysis in the study of soft tissue sarcomas.",
keywords = "cytogenetics, diagnosis, FISH, interphase nuclei, metaphase, sarcoma",
author = "Gabriella Sozzi and Fabiola Minoletti and Monica Miozzo and Laura Sard and Katia Musso and Alberto Azzarelli and Pierotti, {Marco A.} and Silvana Pilotti",
year = "1997",
doi = "10.1016/S0046-8177(97)90096-4",
language = "English",
volume = "28",
pages = "134--142",
journal = "Human Pathology",
issn = "0046-8177",
publisher = "W.B. Saunders Ltd",
number = "2",

}

TY - JOUR

T1 - Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma

AU - Sozzi, Gabriella

AU - Minoletti, Fabiola

AU - Miozzo, Monica

AU - Sard, Laura

AU - Musso, Katia

AU - Azzarelli, Alberto

AU - Pierotti, Marco A.

AU - Pilotti, Silvana

PY - 1997

Y1 - 1997

N2 - Soft tissue sarcomas are a heterogeneous group of malignant tumors displaying a wide range of clinical presentations, morphological features, and biological behaviors. These characteristics and the recent development of differentiated treatment regimens for the different types of soft tissue sarcomas call for refined histological classification using additional ancillary approaches such as cytogenetic and molecular genetic analyses. We coupled classical cytogenetics and fluorescent in situ hybridization (FISH) on both metaphases and interphase nuclei to show the feasibility of this approach to characterize tumor type-specific chromosome rearrangements in soft tissue sarcomas of different histotype. In 35 cases analyzed, we detected the presence of specific chromosome rearrangements such as t(X; 18) in synovial sarcoma (SS), t(12;16) in myxoid liposarcoma (MLS), t(11;22) in peripheral primitive neuroectodermal tumors (pPNET), t(2;13) in alveolar rhabdomyosarcoma (ARMS) and ring chromosomes in dermatofibrosarcoma protuberans (DFSP). In several cases, the presence of these cytogenetic rearrangements was of help for a differential diagnosis. The FISH analysis using painting probes not only confirmed the cytogenetic results but also allowed the identification of tumor-specific chromosome changes in those cases presenting low mitotic index or with poor quality chromosomes. Moreover, in the absence of analysable metaphases, FISH was successfully performed on interphase nuclei. Taken together, these results indicate both the diagnostic and clinical relevance of a molecular cytogenetic analysis in the study of soft tissue sarcomas.

AB - Soft tissue sarcomas are a heterogeneous group of malignant tumors displaying a wide range of clinical presentations, morphological features, and biological behaviors. These characteristics and the recent development of differentiated treatment regimens for the different types of soft tissue sarcomas call for refined histological classification using additional ancillary approaches such as cytogenetic and molecular genetic analyses. We coupled classical cytogenetics and fluorescent in situ hybridization (FISH) on both metaphases and interphase nuclei to show the feasibility of this approach to characterize tumor type-specific chromosome rearrangements in soft tissue sarcomas of different histotype. In 35 cases analyzed, we detected the presence of specific chromosome rearrangements such as t(X; 18) in synovial sarcoma (SS), t(12;16) in myxoid liposarcoma (MLS), t(11;22) in peripheral primitive neuroectodermal tumors (pPNET), t(2;13) in alveolar rhabdomyosarcoma (ARMS) and ring chromosomes in dermatofibrosarcoma protuberans (DFSP). In several cases, the presence of these cytogenetic rearrangements was of help for a differential diagnosis. The FISH analysis using painting probes not only confirmed the cytogenetic results but also allowed the identification of tumor-specific chromosome changes in those cases presenting low mitotic index or with poor quality chromosomes. Moreover, in the absence of analysable metaphases, FISH was successfully performed on interphase nuclei. Taken together, these results indicate both the diagnostic and clinical relevance of a molecular cytogenetic analysis in the study of soft tissue sarcomas.

KW - cytogenetics

KW - diagnosis

KW - FISH

KW - interphase nuclei

KW - metaphase

KW - sarcoma

UR - http://www.scopus.com/inward/record.url?scp=0031014782&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031014782&partnerID=8YFLogxK

U2 - 10.1016/S0046-8177(97)90096-4

DO - 10.1016/S0046-8177(97)90096-4

M3 - Article

C2 - 9023392

AN - SCOPUS:0031014782

VL - 28

SP - 134

EP - 142

JO - Human Pathology

JF - Human Pathology

SN - 0046-8177

IS - 2

ER -