Complex chromosome rearrangements involving 12q14 in two uterine leiomyomas

Pandis, Nikos; Bardi, Georgia; Sfikas, Kostas; Panayotopoulos, Nikos; Tserkezoglou, Aliki; Fotiou, Stelios

doi:10.1016/0165-4608(90)90163-5

Cited by 20 publications

(14 citation statements)

References 15 publications

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“…),+der(4)t(3;4),t( 1214) 46,XX,-3,-4,r( l)(p36 + q42:q2I + q42::q2I -+ q42),r( I)(p36q42),+der(3)t(3;? ),+der (4) of chromosome 1 have been identified as a preferred evolutionary pathway, and some myomas with massive changes have been described (Nilbert et al, , 1989aPandis et al, 1990). T h e findings in the five tumors presented here confirm earlier observations about clonal evolution in uterine leiomyomas but also allow us to draw some new conclusions.…”

Section: Xx-3-4r( L)(p36q42)+der(3)t(3;?)+der(4)t(3;4)t( 12;supporting

confidence: 86%

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Parallel karyotypic evolution and tumor progression in uterine leiomyoma

Pandis¹,

Heim²,

Bardi³

et al. 1990

Genes Chromosomes & Cancer

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Cytogenetic evidence of clonal evolution was detected in five uterine leiomyomas. In two tumors, two clones were found, the third tumor had four, the fourth had nine, and the fifth had 12 clones. The first tumor had trisomy 12 as the primary anomaly and a sideline that also contained a del(7)(q21q31). Both clones of the second tumor had three structural changes in common but differed by the presence in the more advanced clone of an inv(7)(q31q34). Two cytogenetically unrelated pairs of clones were seen in the third tumor. One clone had a stemline of 46 and an r(1); a sideline had developed through duplication of this clone. The other pair had a del(7)(q21q31) in common. The last two tumors both had t(12;14)(q14-15;q23-24) as the primary abnormality. They also had a high frequency of telomeric associations that involved certain chromosome arms only. One of the secondary changes in the fourth tumor was a del(7)(q21q31); the principal secondary change in the fifth case was a ring chromosome 1 of variable size in the different clones. The analysis of these five uterine leiomyomas and the collation of the results with previously obtained data lead us to conclude that del(7)(q21q31) is secondary to t(12;14) and + 12 in this tumor type, and that ring formation involving chromosome 1 material, often with duplication of segments, is a common phenomenon during clonal evolution. The fact that the tumors were classified as cellular and had an increased mitotic rate indicates a parallel development between histologically detectable tumor progression and cytogenetically recognizable clonal evolution in uterine leiomyomas.

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Section: Xx-3-4r( L)(p36q42)+der(3)t(3;?)+der(4)t(3;4)t( 12;supporting

confidence: 86%

“…subclones of case 4. This monosomy has now been reported in several leiomyomas (Gibas et al, 1988;Turc-Care1 et al, 1988b;Nilbert et al, 1989a;Pandis et al, 1990), always as a secondary change.…”

Section: Xx-3-4r( L)(p36q42)+der(3)t(3;?)+der(4)t(3;4)t( 12;mentioning

confidence: 87%

Parallel karyotypic evolution and tumor progression in uterine leiomyoma

Pandis¹,

Heim²,

Bardi³

et al. 1990

Genes Chromosomes & Cancer

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“…Different rearrangements of 6p, including deletions, inversions, and translocations, were observed in eight tumors (19-26), both as the sole aberration and as one of several changes. Nonrecurrent 6p rearrangements, sometimes together with other anomalies, have previously been reported in seven leiomyomas (Mugneret et al 1988;Turc-Carel et al 1988;Mark et al 1989;Nilbert et al 1989c;Pandis et al 1990), supporting the conclusion that these anomalies characterize a new cytogenetic subgroup. The t(2;6) described by Turc-Carel et al (1988) was found alongside t(12;14), the t(X;6) of tumor 19 was found together with t(2;12), and the inv(6) of tumor 20 together with 12q anomalies, indicating that at least some of the rearrangements of 6p may be secondary to changes of 12q13-15.…”

Section: Discussionsupporting

confidence: 58%

“…In this series, t(12;14) was detected in only one tumor, and then together with multiple numerical and structural rearrangements. This case shows that benign neoplasms may occasionally display massive chromosome changes, as has also previously been observed in uterine leiomyomas (Nilbert et al 1988(Nilbert et al , 1989aPandis et al 1990). It is Table 1 worth noting that massive secondary aberrations, reflecting clonal evolution within the tumor cell population, have occurred repeatedly in tumors with 12q changes, but have not been described in leiomyomas characterized by del(Tq) or + 12.…”

Section: Discussionmentioning

confidence: 59%

“…Changes of 12q14-15 without anomalies of chromosome 14 have previously been described in nine leiomyomas (Casartelli et al 1989;Havel et al 1989a;Mark et al 1989;Nilbert et al 1989a;Vanni et al 1989;Pandis et al 1990). On the other hand, rearrangement of 14q23-24 without simultaneous 12q changes has been reported in only one tumor, as a dir ins(14;6)(q23;p23p25) (Mugneret et al 1988).…”

Section: Discussionmentioning

confidence: 99%

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Characteristic chromosome abnormalities, including rearrangements of 6p, del(7q), +12, and t(12;14), in 44 uterine leiomyomas

et al. 1990

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The cytogenetic analysis of 224 leiomyomas from 138 patients is presented. An insufficient number of mitoses was found in 35 tumors, normal karyotypes in 145, and clonal chromosome aberrations were detected in 44. The three previously identified cytogenetic subgroups were all represented in this series: del(7) (q21.2q31.2) was found in 11, trisomy 12 in five, and t(12;14)(q14-15;q23-24) in one leiomyoma. Rearrangements of 6p, including deletions, inversions, and various translocations, were found in eight tumors, thus delineating a new cytogenetic subgroup of uterine leiomyoma. The remaining 21 karyotypically abnormal tumors had nonrecurrent changes. One leiomyoma had two cytogenetically unrelated clones characterized by del(7)(q21.2q31.2) and +12. Karyotypic changes in two separate leiomyomas from the same uterus were identified in five patients; in three of them, different anomalies were found in the two tumors, whereas cytogenetically identical aberrations - del(7q) and dic(21;22) - were detected in two macroscopically discrete tumors. These findings suggest that whereas some multiple leiomyomas originate independently, others may be derived from the same neoplastic clone.

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Uterine leiomyoma cytogenetics

Nilbert

Heim

1990

Genes Chromosomes & Cancer

210

115

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Uterine leiomyoma--a benign smooth muscle tumor--has recently been found to contain tumor-specific chromosome aberrations. Although only normal karyotypes were detected in 50 to 80% of cytogenetically investigated tumors, 104 leiomyomas with karyotypic aberrations have already been reported. At least four cytogenetically abnormal subgroups have been identified thus far, characterized by rearrangements of 6p, del(7)(q21.2q31.2), +12, and t(12;14)(q14-15;q23-24). The remaining abnormal tumors have had various nonrecurrent anomalies. Secondary karyotypic rearrangements, sometimes including ring chromosomes, have been found in one-third and reflect clonal evolution. Occasional leiomyomas have contained multiple numerical and structural rearrangements. Though benign, these cytogenetically grossly aberrant tumors often displayed more atypical histological features than are usually seen in leiomyoma. Multiple leiomyomas have been investigated from 69 patients, with detection of chromosome anomalies in at least two separate tumors from the same uterus in ten cases. In half of these patients unrelated aberrations were found in different leiomyomas from the same uterus. On other occasions the aberrations were identical, indicating that although some uterine leiomyomas originate independently, others may develop by intra-myometrial spreading from a common neoplastic clone. Some common features are discernible between the karyotypic pictures of uterine leiomyoma and angioleiomyoma; rearrangements of 6p, 13q, and 21q have been described in both tumor types. The cytogenetic similarities so far detected between leiomyoma and the malignant muscle tumors--leiomyosarcoma and rhabdomyosarcoma--are few and may be fortuitous. The cytogenetic profiles of leiomyoma and lipoma are strikingly similar; both tumor types have nonrandom rearrangements of 12q13-15, t(12;14) in leiomyoma and t(3;12) in lipoma, as well as variant rearrangements of the same 12q segment. Both also have cytogenetic subgroups characterized by changes in 6p and ring chromosomes. Finally, karyotypic similarities exists also between leiomyoma and pleomorphic adenoma of the salivary gland, which includes a subset of tumors with anomalies of 12q13-15, and with myxoid liposarcoma, which has t(12;16)(q13;p11) as a tumor-specific rearrangement.

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Complex chromosome rearrangements involving 12q14 in two uterine leiomyomas

Cited by 20 publications

References 15 publications

Parallel karyotypic evolution and tumor progression in uterine leiomyoma

Parallel karyotypic evolution and tumor progression in uterine leiomyoma

Characteristic chromosome abnormalities, including rearrangements of 6p, del(7q), +12, and t(12;14), in 44 uterine leiomyomas

Uterine leiomyoma cytogenetics

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