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Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17)

Micci, F; Walter, CU; Teixeira, MR; Panagopoulos, Ioannis LU ; Bjerkehagen, B; Saeter, G and Heim, S (2003) In Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00 144(2). p.119-124
Abstract
Endometrial stromal sarcomas (ESS) are rare neoplasms with the capacity both to invade the myometrium locally and to give rise to extrauterine metastases. Cytogenetic abnormalities have been reported in 22 cases of ESS, mostly involving rearrangements of chromosomes 6, 7, and 17. The most characteristic translocation of this tumor type, t(7;17)(p15-p21;q12-q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique... (More)
Endometrial stromal sarcomas (ESS) are rare neoplasms with the capacity both to invade the myometrium locally and to give rise to extrauterine metastases. Cytogenetic abnormalities have been reported in 22 cases of ESS, mostly involving rearrangements of chromosomes 6, 7, and 17. The most characteristic translocation of this tumor type, t(7;17)(p15-p21;q12-q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7; 17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case. Two tumors had aberrations that included structural changes of chromosome arms 6p and 7p. Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features. (C) 2003 Elsevier Inc. All rights reserved. (Less)
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author
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published
subject
in
Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
volume
144
issue
2
pages
119 - 124
publisher
Elsevier
external identifiers
  • pmid:12850374
  • wos:000184245600005
  • scopus:0038016605
ISSN
0165-4608
DOI
10.1016/S0165-4608(03)00025-6
language
English
LU publication?
yes
id
0320ef2a-bbd2-4d16-be2c-245c01d7da9c (old id 306146)
date added to LUP
2007-09-18 12:30:17
date last changed
2017-05-21 04:29:54
@article{0320ef2a-bbd2-4d16-be2c-245c01d7da9c,
  abstract     = {Endometrial stromal sarcomas (ESS) are rare neoplasms with the capacity both to invade the myometrium locally and to give rise to extrauterine metastases. Cytogenetic abnormalities have been reported in 22 cases of ESS, mostly involving rearrangements of chromosomes 6, 7, and 17. The most characteristic translocation of this tumor type, t(7;17)(p15-p21;q12-q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7; 17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case. Two tumors had aberrations that included structural changes of chromosome arms 6p and 7p. Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features. (C) 2003 Elsevier Inc. All rights reserved.},
  author       = {Micci, F and Walter, CU and Teixeira, MR and Panagopoulos, Ioannis and Bjerkehagen, B and Saeter, G and Heim, S},
  issn         = {0165-4608},
  language     = {eng},
  number       = {2},
  pages        = {119--124},
  publisher    = {Elsevier},
  series       = {Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00},
  title        = {Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17)},
  url          = {http://dx.doi.org/10.1016/S0165-4608(03)00025-6},
  volume       = {144},
  year         = {2003},
}