Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization

Trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor

T. Tornóczky, E. Kálmán, Z. Sápi, Zsolt Orosz, László Pajor

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8 Citations (Scopus)

Abstract

Four alveolar soft-part sarcomas were investigated by means of standard immunohistochemistry and interphase cytogenetics to further characterize the immunophenotype and proliferative activity of this tumor. The main goal of this study was to explore the chromosomal changes of this rare soft-tissue sarcoma. One epithelial (KL1), three neurogenic [neuron specific enolase (NSE), PGP 9.5, and S100], and five myogenic (desmin, myoglobin, α-smooth muscle actin, α-sarcomeric actin, and MyoD1) markers were used for the immunophenotypical analysis. Proliferative activity was assessed using the Ki67 index. Twelve (peri)centromeric (1, 3, 4, 6, 7, 8, 10, 12, 15, 17, 18, and X) and one telomeric (17q25-qtel.) chromosomal probes were used for interphase cytogenetic analysis. Three of the cases showed cytoplasmic desmin and/or myoglobin, and one showed smooth muscle actin positivity. All of the four tumors had granular, cytoplasmic, possibly nonspecific MyoD1 and sarcomeric actin positivity. Two of the tumors were positive for vimentin, four gave focal and weak staining with neurogenic markers (four of four NSE, one of four S100, and four of four PGP 9.5), but none of them was positive with KL1. Alveolar soft-part sarcomas may show myogenic immunophenotype in a number of cases, which supports myogenic differentiation. Fluorescent in situ hybridization using alpha satellite chromosomal probes revealed significant alterations in all of the cases. Most frequent and repeated numerical changes, which seem to be characteristic of the neoplasm and may play an important part in its pathogenesis and/or progression, were trisomy 7, monosomy 8 and monosomy 18.

Original languageEnglish
Pages (from-to)173-180
Number of pages8
JournalVirchows Archiv
Volume438
Issue number2
DOIs
Publication statusPublished - 2001

Fingerprint

Alveolar Soft Part Sarcoma
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 8
Trisomy
Interphase
Fluorescence In Situ Hybridization
Chromosome Aberrations
Actins
Desmin
Phosphopyruvate Hydratase
Myoglobin
DNA Probes
Smooth Muscle
Neoplasms
Monosomy
Cytogenetic Analysis
Vimentin
Cytogenetics
Sarcoma
Immunohistochemistry

Keywords

  • Alveolar soft-part sarcoma
  • Chromosome 1, 6, 7, 8, 18, 17q25-qtel.
  • FISH
  • Monosomy
  • Trisomy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

@article{b027f6d9d1b94fa5b5cc0b8ac34b31ec,
title = "Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization: Trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor",
abstract = "Four alveolar soft-part sarcomas were investigated by means of standard immunohistochemistry and interphase cytogenetics to further characterize the immunophenotype and proliferative activity of this tumor. The main goal of this study was to explore the chromosomal changes of this rare soft-tissue sarcoma. One epithelial (KL1), three neurogenic [neuron specific enolase (NSE), PGP 9.5, and S100], and five myogenic (desmin, myoglobin, α-smooth muscle actin, α-sarcomeric actin, and MyoD1) markers were used for the immunophenotypical analysis. Proliferative activity was assessed using the Ki67 index. Twelve (peri)centromeric (1, 3, 4, 6, 7, 8, 10, 12, 15, 17, 18, and X) and one telomeric (17q25-qtel.) chromosomal probes were used for interphase cytogenetic analysis. Three of the cases showed cytoplasmic desmin and/or myoglobin, and one showed smooth muscle actin positivity. All of the four tumors had granular, cytoplasmic, possibly nonspecific MyoD1 and sarcomeric actin positivity. Two of the tumors were positive for vimentin, four gave focal and weak staining with neurogenic markers (four of four NSE, one of four S100, and four of four PGP 9.5), but none of them was positive with KL1. Alveolar soft-part sarcomas may show myogenic immunophenotype in a number of cases, which supports myogenic differentiation. Fluorescent in situ hybridization using alpha satellite chromosomal probes revealed significant alterations in all of the cases. Most frequent and repeated numerical changes, which seem to be characteristic of the neoplasm and may play an important part in its pathogenesis and/or progression, were trisomy 7, monosomy 8 and monosomy 18.",
keywords = "Alveolar soft-part sarcoma, Chromosome 1, 6, 7, 8, 18, 17q25-qtel., FISH, Monosomy, Trisomy",
author = "T. Torn{\'o}czky and E. K{\'a}lm{\'a}n and Z. S{\'a}pi and Zsolt Orosz and L{\'a}szl{\'o} Pajor",
year = "2001",
doi = "10.1007/s004280000332",
language = "English",
volume = "438",
pages = "173--180",
journal = "Virchows Archiv - A Pathological Anatomy and Histopathology",
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TY - JOUR

T1 - Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization

T2 - Trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor

AU - Tornóczky, T.

AU - Kálmán, E.

AU - Sápi, Z.

AU - Orosz, Zsolt

AU - Pajor, László

PY - 2001

Y1 - 2001

N2 - Four alveolar soft-part sarcomas were investigated by means of standard immunohistochemistry and interphase cytogenetics to further characterize the immunophenotype and proliferative activity of this tumor. The main goal of this study was to explore the chromosomal changes of this rare soft-tissue sarcoma. One epithelial (KL1), three neurogenic [neuron specific enolase (NSE), PGP 9.5, and S100], and five myogenic (desmin, myoglobin, α-smooth muscle actin, α-sarcomeric actin, and MyoD1) markers were used for the immunophenotypical analysis. Proliferative activity was assessed using the Ki67 index. Twelve (peri)centromeric (1, 3, 4, 6, 7, 8, 10, 12, 15, 17, 18, and X) and one telomeric (17q25-qtel.) chromosomal probes were used for interphase cytogenetic analysis. Three of the cases showed cytoplasmic desmin and/or myoglobin, and one showed smooth muscle actin positivity. All of the four tumors had granular, cytoplasmic, possibly nonspecific MyoD1 and sarcomeric actin positivity. Two of the tumors were positive for vimentin, four gave focal and weak staining with neurogenic markers (four of four NSE, one of four S100, and four of four PGP 9.5), but none of them was positive with KL1. Alveolar soft-part sarcomas may show myogenic immunophenotype in a number of cases, which supports myogenic differentiation. Fluorescent in situ hybridization using alpha satellite chromosomal probes revealed significant alterations in all of the cases. Most frequent and repeated numerical changes, which seem to be characteristic of the neoplasm and may play an important part in its pathogenesis and/or progression, were trisomy 7, monosomy 8 and monosomy 18.

AB - Four alveolar soft-part sarcomas were investigated by means of standard immunohistochemistry and interphase cytogenetics to further characterize the immunophenotype and proliferative activity of this tumor. The main goal of this study was to explore the chromosomal changes of this rare soft-tissue sarcoma. One epithelial (KL1), three neurogenic [neuron specific enolase (NSE), PGP 9.5, and S100], and five myogenic (desmin, myoglobin, α-smooth muscle actin, α-sarcomeric actin, and MyoD1) markers were used for the immunophenotypical analysis. Proliferative activity was assessed using the Ki67 index. Twelve (peri)centromeric (1, 3, 4, 6, 7, 8, 10, 12, 15, 17, 18, and X) and one telomeric (17q25-qtel.) chromosomal probes were used for interphase cytogenetic analysis. Three of the cases showed cytoplasmic desmin and/or myoglobin, and one showed smooth muscle actin positivity. All of the four tumors had granular, cytoplasmic, possibly nonspecific MyoD1 and sarcomeric actin positivity. Two of the tumors were positive for vimentin, four gave focal and weak staining with neurogenic markers (four of four NSE, one of four S100, and four of four PGP 9.5), but none of them was positive with KL1. Alveolar soft-part sarcomas may show myogenic immunophenotype in a number of cases, which supports myogenic differentiation. Fluorescent in situ hybridization using alpha satellite chromosomal probes revealed significant alterations in all of the cases. Most frequent and repeated numerical changes, which seem to be characteristic of the neoplasm and may play an important part in its pathogenesis and/or progression, were trisomy 7, monosomy 8 and monosomy 18.

KW - Alveolar soft-part sarcoma

KW - Chromosome 1, 6, 7, 8, 18, 17q25-qtel.

KW - FISH

KW - Monosomy

KW - Trisomy

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U2 - 10.1007/s004280000332

DO - 10.1007/s004280000332

M3 - Article

VL - 438

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SN - 0945-6317

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