Cytogenetic abnormalities in uterine leiomyomata are associated with leiomyomata size

Rein, Mitchell S.

doi:10.1016/1071-5576(95)94586-j

Cited by 61 publications

(80 citation statements)

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“…An unbalanced rearrangement producing der (14)t(12;14) has been previously, albeit rarely, reported in pulmonary chondroid hamartoma (26) and uterine leiomyomata (27)(28)(29). Interestingly, two of the three cases with a solitary der (14) also have partial or complete monosomy 22 (27,28). 14, and an abnormal chromosome 14 derived from t(12;14)(q15;q24).…”

Section: Discussionmentioning

confidence: 99%

Intravenous Leiomyomatosis: Molecular and Cytogenetic Analysis of a Case

et al. 2002

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Apart from its hormone responsiveness, little about the pathobiology of intravenous leiomyomatosis (IVL), a rare smooth muscle proliferation, is known. We investigated the cytogenetics and molecular biology of IVL in a 40-year-old female who presented with an abrupt onset of dyspnea. In addition to the intracaval tumor mass composed of histologically benign smooth muscle, four distinct retroperitoneal "fibroids" were cytogenetically investigated. An identical abnormal karyotype, 45,XX,der(14)t(12;14)(q15;q24),-22, was observed in all five specimens. Fluorescence in situ hybridization revealed three copies of HMGIC (alias HMGA2), two on the normal chromosomes 12 at 12q15, as well as another on the der(14) in the breakpoint region, suggesting that the 12q breakpoint occurred 5' (centromeric) to HMGIC (HMGA2), as has been frequently observed in uterine leiomyoma. Such similarity in chromosomal rearrangements suggests that there may be a pathogenetic relationship between IVL and uterine leiomyomata with t(12;14). Skewed X inactivation was observed in each tumor sample, but not in the myometrium. In each tumor, the lower molecular weight allele of HUMARA was nonrandomly inactivated. This pattern of X inactivation is most consistent with origin from a single transformation event, and in this regard, IVL more closely resembles disseminated peritoneal leiomyomatosis than typical uterine leiomyomata.

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Section: Discussionmentioning

confidence: 99%

Intravenous Leiomyomatosis: Molecular and Cytogenetic Analysis of a Case

et al. 2002

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“…23,40 But FISH showed complex rearrangements on chromosomes 3, 6, 10 and 12. 41,42 Cytogenetic abnormalities of HMGA2 are reported in 40-50% of uterine leiomyomas. These data are significantly correlated with immunohistochemical expression of HMGA2 in our series and in several other studies.…”

Section: Hmga2 In Mesenchymal Tumorsmentioning

confidence: 99%

“…These data are significantly correlated with immunohistochemical expression of HMGA2 in our series and in several other studies. [42][43][44] Among vulvovaginal lesions, aggressive angiomyxomas also have rearrangements of 12q13-15 region with translocations involving chromosomes 1, 7, 8 and 21. [45][46][47][48] But HMGA2 was identified as the only regulated gene, and RT-PCR techniques have reported breakpoints in HMGA2 at different levels: preferentially in the 5 0 part of gene and also described in intron 3.…”

Section: Hmga2 In Mesenchymal Tumorsmentioning

confidence: 99%

Value and limitation of immunohistochemical expression of HMGA2 in mesenchymal tumors: about a series of 1052 cases

et al. 2010

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The high mobility group A (HMGA2) gene encodes a protein that alters chromatin structure and regulates the transcription of many genes; it is implicated in both benign and malignant neoplasias, but its rearrangements are a feature of development of several mesenchymal tumors. Given its implication in these tumors and particularly adipocytic tumors, and the availability of antibodies usable on paraffin-embedded tissues, we evaluated the immunohistochemical expression of this gene in a series of 1052 mesenchymal tumors. The objective was to define the value and limitations of HMGA2 immunohistochemical expression for histotyping, and compare with molecular data reported in the literature. We thus analyzed 880 cases on tissue microarray and 182 cases on whole sections (211 adipocytic tumors, 628 sarcomas, 213 benign mesenchymal tumors, and 10 normal adipose tissues). A nuclear immunostaining was detected in 86% of conventional and intramuscular lipomas, in 86% of well-differentiated liposarcomas and in 67% of dedifferentiated liposarcomas, as opposed to 16% of other benign adipose tumors and to 15% of non-well-differentiated liposarcoma/dedifferentiated liposarcoma sarcomas. Among benign mesenchymal tumors and lesions, it was detected in 90% of nodular fasciitis and in 88% of benign fibrous histiocytomas with respective specificities of 85 and 100%, and in 90% of aggressive angiomyxoma, contrary to other vulvovaginal tumor types, which expressed HMGA2 only rarely. The normal adipose tissue was always negative for HMGA2. Although not specific, immunohistochemical detection of the HMGA2 protein is helpful for the distinction of normal adipose tissue from well-differentiated lesions, particularly on biopsy or on re-excision. It is less sensitive than MDM2/CDK4 for dedifferentiated liposarcomas diagnosis, but it appears more specific to distinguish dedifferentiated liposarcomas from other poorly differentiated sarcomas. Finally, and may be more importantly, HMGA2 is useful for the diagnosis of benign fibrous histiocytoma, nodular fasciitis and vulvovaginal benign mesenchymal tumors.

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“…No entanto, alterações cromossômicas e mutações gênicas podem ocorrer nas células somáticas, em especial nos tumores. Deleções, translocações e rearranjos conhecidos, envolvendo os cromossomos 3, 6, 7, 10, 12 e 14, são encontrados em até 40% dos leiomiomas 29,30 . Isso não invalida nossa escolha de tecido tumoral como material de estudo no Grupo Caso, pois tais alterações, quando presentes, não acometem todas as células de determinado nódulo 31 , e poupam o cromossomo 11 (sede do gene RP).…”

Section: Relação Entre Polimorfismo Do Gene Do Receptor De Progesterounclassified

Relação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterino

Gomes¹,

Castro²,

Villanova³

et al. 2006

Rev. Bras. Ginecol. Obstet.

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Objetivos: analisamos raça, paridade e presença do polimorfismo do gene do receptor de progesterona, denominado PROGINS, como fatores relacionados à ocorrência de leiomioma uterino em mulheres brasileiras. Métodos: realizamos estudo caso-controle, no qual foram incluídas 122 pacientes com diagnóstico de leiomioma e 125 mulheres sem a doença. Após registro dos dados clínicos, coletamos material biológico para extração de DNA, reação em cadeia da polimerase e eletroforese em gel de agarose, a fim de identificar a presença do polimorfismo PROGINS. A análise estatística foi feita pelo teste não paramétrico de Mann-Whitney ou pelo teste do χ 2 , a depender da variável estudada. O risco para ocorrência da doença foi calculado pelo modelo de regressão logística, com obtenção da odds ratio (OR) (razão de chances). O nível de significância adotado foi de 5% (p<0,05) e o intervalo de confiança foi de 95% (IC 95%). Resultados: observamos maior prevalência de "não-brancas" -pardas e negras -(50 vs 22,4%) e de nulíparas (23,8 vs 11,2%) nos casos, ao passo que o genótipo do receptor de progesterona foi mais freqüentemente PROGINS positivo -heterozigoto ou homozigoto mutante -entre os controles (21,6 vs 10,7%). A razão de chances indicou elevação do risco para leiomioma relacionada à raça "não branca" (OR=3,46; IC 95%: 2,0-6,0) e à nuliparidade (OR=3,30; IC 95%: 1,9-5,6), com redução na presença de genótipos PROGINS positivo (OR=0,43; IC 95%: 0,2-0,9). Conclusões: a raça "não branca" e a nuliparidade foram consideradas fatores de risco para a ocorrência de leiomioma uterino em mulheres da população estudada, ao passo que o polimorfismo PROGINS demonstrou ser fator protetor. PALAVRAS-CHAVE: ABSTRACTPurpose: to analyze race, parity and presence of the progesterone receptor polymorphism, named PROGINS, as factors related to uterine leiomyoma occurrence in Brazilian women. Methods: we carried out a case-control study, composed of 122 patients with the diagnosis of uterine fibroid and 125 women without the disease. After recording the clinical data, we collected biological material for DNA extraction, polymerase chain reaction and agarose gel electrophoresis in order to identify the presence of PROGINS polymorphism. Statistical analysis was performed using the non-parametric MannWhitney test or the χ 2 test, depending on the studied variable. The risk for the occurrence of the disease was calculated byRelação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterinoRelation between progesterone receptor gene polymorphism, race, parity, and uterine leiomyoma occurrence

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Cytogenetic abnormalities in uterine leiomyomata are associated with leiomyomata size

Cited by 61 publications

References 0 publications

Intravenous Leiomyomatosis: Molecular and Cytogenetic Analysis of a Case

Intravenous Leiomyomatosis: Molecular and Cytogenetic Analysis of a Case

Value and limitation of immunohistochemical expression of HMGA2 in mesenchymal tumors: about a series of 1052 cases

Relação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterino

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