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Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma

Micci, F ; Panagopoulos, Ioannis LU ; Bjerkehagen, B and Heim, S (2006) In Cancer Research 66(1). p.107-112
Abstract
Endometrial stromal sarcomas (ESS) represent <10% of all uterine sarcomas. Cytogenetic data on this tumor type are limited to 32 cases, and the karyotypes are often complex, but the pattern of rearrangement is nevertheless clearly nonrandom with particularly frequent involvement of chromosome arms 6p and 7p. Recently, a specific translocation t(7;17)(p15;q21) leading to the fusion of two zinc finger genes, juxtaposed with another zinc finger (JAZF1) and joined to JAZF1 (JJAZ1), was described in a subset of ESS. We present three ESS whose karyotypes were without the disease-specific t(7;17) but instead showed rearrangement of chromosomal hand 6p21, twice as all unbalanced t(6p;7p) and once as a three-way 6;10;10 translocation. All three... (More)
Endometrial stromal sarcomas (ESS) represent <10% of all uterine sarcomas. Cytogenetic data on this tumor type are limited to 32 cases, and the karyotypes are often complex, but the pattern of rearrangement is nevertheless clearly nonrandom with particularly frequent involvement of chromosome arms 6p and 7p. Recently, a specific translocation t(7;17)(p15;q21) leading to the fusion of two zinc finger genes, juxtaposed with another zinc finger (JAZF1) and joined to JAZF1 (JJAZ1), was described in a subset of ESS. We present three ESS whose karyotypes were without the disease-specific t(7;17) but instead showed rearrangement of chromosomal hand 6p21, twice as all unbalanced t(6p;7p) and once as a three-way 6;10;10 translocation. All three tumors showed specific rearrangement of the PHD finger protein 1 (PHF1) gene, located in chromosomal band 6p21. In the two tumors with t(6;7), PHF1 was recombined with the JAZF1 gene from 7p15, leading to the formation of a JAZF1/PHF1 fusion gene. The third tumor showed a t(6p;10q;10p) as the sole karyotypic abnormality, leading to the fusion of PHF1 with another partner, the enhancer of polycomb (EPC1) gene from 10p11; EPC1 has hitherto not been associated with neoplasia. The PHF1 gene encodes a protein with two, zinc finger motifs whose involvement in tumorigenesis and/or tumor progression has not been reported before, but its rearrangement clearly defines a new pathogenetic subgroup of ESS. (Less)
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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cancer Research
volume
66
issue
1
pages
107 - 112
publisher
American Association for Cancer Research Inc.
external identifiers
  • wos:000234529500016
  • pmid:16397222
  • scopus:31544455796
ISSN
1538-7445
DOI
10.1158/0008-5472.CAN-05-2485
language
English
LU publication?
yes
id
8eab17f4-085c-4e4a-81b4-75497f53b3fe (old id 421411)
alternative location
http://cancerres.aacrjournals.org/cgi/content/abstract/66/1/107
date added to LUP
2016-04-01 16:43:35
date last changed
2021-09-15 03:44:36
@article{8eab17f4-085c-4e4a-81b4-75497f53b3fe,
  abstract     = {Endometrial stromal sarcomas (ESS) represent &lt;10% of all uterine sarcomas. Cytogenetic data on this tumor type are limited to 32 cases, and the karyotypes are often complex, but the pattern of rearrangement is nevertheless clearly nonrandom with particularly frequent involvement of chromosome arms 6p and 7p. Recently, a specific translocation t(7;17)(p15;q21) leading to the fusion of two zinc finger genes, juxtaposed with another zinc finger (JAZF1) and joined to JAZF1 (JJAZ1), was described in a subset of ESS. We present three ESS whose karyotypes were without the disease-specific t(7;17) but instead showed rearrangement of chromosomal hand 6p21, twice as all unbalanced t(6p;7p) and once as a three-way 6;10;10 translocation. All three tumors showed specific rearrangement of the PHD finger protein 1 (PHF1) gene, located in chromosomal band 6p21. In the two tumors with t(6;7), PHF1 was recombined with the JAZF1 gene from 7p15, leading to the formation of a JAZF1/PHF1 fusion gene. The third tumor showed a t(6p;10q;10p) as the sole karyotypic abnormality, leading to the fusion of PHF1 with another partner, the enhancer of polycomb (EPC1) gene from 10p11; EPC1 has hitherto not been associated with neoplasia. The PHF1 gene encodes a protein with two, zinc finger motifs whose involvement in tumorigenesis and/or tumor progression has not been reported before, but its rearrangement clearly defines a new pathogenetic subgroup of ESS.},
  author       = {Micci, F and Panagopoulos, Ioannis and Bjerkehagen, B and Heim, S},
  issn         = {1538-7445},
  language     = {eng},
  number       = {1},
  pages        = {107--112},
  publisher    = {American Association for Cancer Research Inc.},
  series       = {Cancer Research},
  title        = {Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma},
  url          = {http://dx.doi.org/10.1158/0008-5472.CAN-05-2485},
  doi          = {10.1158/0008-5472.CAN-05-2485},
  volume       = {66},
  year         = {2006},
}