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1.
J Gynecol Oncol ; 21(4): 219-24, 2010 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-21278882

RESUMO

Type III radical hysterectomy reported in 1974 by Piver, Rutledge, and Smith is considered worldwide by many as the standard surgical therapy for invasive cervical carcinoma stage IB and IIA. With the increasing number of robotic surgeries being performed for early stage cervical cancer worldwide, the purpose of the paper is to present our personal perspective of the 21st century role of Piver-Rutledge type III radical hysterectomy for stage IB cervical cancer in the era of robotic surgery using the da Vinci robot.

2.
Cancer ; 115(2): 324-33, 2009 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-19117025

RESUMO

BACKGROUND: Inherited mutations account for approximately 10% of all epithelial ovarian cancers. Breast cancer (BRCA1 and BRACA2) gene mutations are responsible for up to 85% of inherited breast and/or ovarian cancer. Another condition that has been associated with ovarian cancer is hereditary nonpolyposis colorectal cancer syndrome (HNPCC), which carries a lifetime risk of up to 13% for ovarian cancer. The objective of this study was to determine the incidence of HNPCC-related gene mutations in patients with familial ovarian cancer who previously tested negative for BRCA1 and BRCA2 gene mutations. METHODS: Seventy-seven probands were identified who had familial ovarian cancer and negative BRCA gene mutation testing. Their pedigrees were analyzed for HNPCC syndrome. DNA samples underwent gene sequencing and Southern blot analysis for mutations in the 3 most common HNPCC-associated genes: mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2) with reflex testing for MSH6 if tests for the first 2 genes were negative. RESULTS: None of the probands met Amsterdam criteria for the clinical diagnosis of HNPCC. DNA testing revealed 2 patients (2.6%) with deleterious mutations in the MSH2 gene. An additional 8 patients (10.4%) had substitutions in either the MLH1 gene or the MSH2 gene that were classified as variants of uncertain significance. If Amsterdam criteria were expanded to include ovarian cancer, then 15 of 77 patients (19.5%) would have met these expanded criteria. One deleterious mutation was noted in this group, yielding a mutation incidence of 6.7%. This percentage may be even higher if any of the identified variants of uncertain significance are confirmed to be deleterious. CONCLUSIONS: HNPCC should be considered when evaluating patients with suspected hereditary ovarian cancer who have had negative BRCA mutation testing.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA/genética , Genes BRCA1 , Genes BRCA2 , Neoplasias Ovarianas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Mutação , Proteínas Nucleares/genética , Linhagem
3.
Oncology (Williston Park) ; 22(14): 1580-5; discussion 1585, 1591-5, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19198218

RESUMO

The incidence of ovarian cancer is highest in women over 70 years old, and the disease is the leading cause of death from gynecologic malignancies in the United States and Europe. Nevertheless, improving the quality of medical care for elderly women with ovarian cancer continues to be a challenge. This paper presents the major issues related to the surgical management of presumed early-stage ovarian cancer, surgery and chemotherapy for advanced-stage ovarian cancer in the elderly, and a proposed 21st century algorithm for dealing with these major issues in ovarian cancer in the elderly.


Assuntos
Neoplasias Ovarianas , Idoso , Idoso de 80 Anos ou mais , Envelhecimento , Quimioterapia Adjuvante , Feminino , Avaliação Geriátrica , Humanos , Terapia Neoadjuvante , Estadiamento de Neoplasias , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Prognóstico
4.
Hum Mutat ; 28(12): 1207-15, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17688236

RESUMO

A total of 283 epithelial ovarian cancer families from the United Kingdom (UK) and the United States (US) were screened for coding sequence changes and large genomic alterations (rearrangements and deletions) in the BRCA1 and BRCA2 genes. Deleterious BRCA1 mutations were identified in 104 families (37%) and BRCA2 mutations in 25 families (9%). Of the 104 BRCA1 mutations, 12 were large genomic alterations; thus this type of change represented 12% of all BRCA1 mutations. Six families carried a previously described exon 13 duplication, known to be a UK founder mutation. The remaining six BRCA1 genomic alterations were previously unreported and comprised five deletions and an amplification of exon 15. One of the 25 BRCA2 mutations identified was a large genomic deletion of exons 19-20. The prevalence of BRCA1/2 mutations correlated with the extent of ovarian and breast cancer in families. Of 37 families containing more than two ovarian cancer cases and at least one breast cancer case with diagnosis at less than 60 years of age, 30 (81%) had a BRCA1/2 mutation. The mutation prevalence was appreciably less in families without breast cancer; mutations were found in only 38 out of 141 families (27%) containing two ovarian cancer cases only, and in 37 out of 59 families (63%) containing three or more ovarian cancer cases. These data indicate that BRCA1 and BRCA2 are the major susceptibility genes for ovarian cancer but that other susceptibility genes may exist. Finally, it is likely that these data will be of clinical importance for individuals in families with a history of epithelial ovarian cancer, in providing accurate estimates of their disease risks.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Mutação , Neoplasias Ovarianas/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Análise Mutacional de DNA , Éxons/genética , Saúde da Família , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Deleção de Sequência , Reino Unido , Estados Unidos
5.
Hum Mutat ; 28(5): 525-6, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17397054

RESUMO

Misdiagnosis of a germline mutation associated with an inherited disease syndrome can have serious implications for the clinical management of patients. A false negative diagnosis (mutation missed by genetic screening) limits decision making about intervention strategies within families. More serious is the consequence of a false positive diagnosis (genetic test suggesting a mutation is present when it is not). This could lead to an individual, falsely diagnosed as a mutation carrier, undergoing unnecessary clinical intervention, possibly involving risk-reducing surgery. As part of screening 283 ovarian cancer families for BRCA1 mutations, we used two different methods (mutation specific PCR and multiplex ligation-dependent probe amplification) to screen for a known rearrangement mutation L78833.1:g.44369_50449dup (ins6kbEx13). We found false positive and false negative results in several families. We then tested 61 known carriers or non-carriers from an epidemiological study of BRCA1 and BRCA2 mutation carriers (the EMBRACE study). These data highlight the need for caution when interpreting analyses of the ins6kbEx13 mutation and similar mutations, where characterising the exact sequence alteration for a deleterious mutation is not a part of the routine genetic test.


Assuntos
Genes BRCA1 , Testes Genéticos , Mutação em Linhagem Germinativa , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Neoplasias Ovarianas/genética , Linhagem , Reação em Cadeia da Polimerase
6.
Genet Med ; 8(10): 653-7, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17079882

RESUMO

PURPOSE: Familial ovarian cancer is most often associated with hereditary breast and ovarian cancer, implicating mutations in the BRCA1 and BRCA2 genes. Hereditary nonpolyposis colorectal cancer, another common syndrome, is also associated with ovarian cancer and is caused by DNA mismatch repair genes. We sought to identify the role of hereditary nonpolyposis colorectal cancer in women with family histories of ovarian cancer. METHODS: The likelihood of a genetic syndrome in 226 oophorectomized women in the Gilda Radner Familial Ovarian Cancer Registry was determined by pedigree analysis using clinical criteria and by calculating the probability of a mutation in genes responsible for hereditary breast and ovarian cancer and hereditary nonpolyposis colorectal cancer using available risk models. RESULTS: Some 86% had a BRCA gene mutation likelihood of 7.8% or higher, warranting consideration of hereditary breast and ovarian cancer. Of the 32 women below this threshold, 4 (12.5%) had family histories that met criteria for clinical diagnosis of hereditary nonpolyposis colorectal cancer. In addition, 16 women (7%) with a BRCA mutation likelihood greater than 7.8% met clinical criteria for hereditary nonpolyposis colorectal cancer or warranted its inclusion in the differential diagnosis. Among all study respondents, 9% had family histories warranting consideration of hereditary nonpolyposis colorectal cancer. CONCLUSION: Hereditary nonpolyposis colorectal cancer should be considered in the differential diagnosis of women with family histories of ovarian cancer.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Genes BRCA1 , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Sistema de Registros , Feminino , Humanos , Mutação , Ovariectomia , Linhagem , Risco
8.
Gynecol Oncol ; 102(3): 475-9, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16473397

RESUMO

BACKGROUND: Current surgical recommendations for ovarian cancer prophylaxis in women at high risk of developing ovarian cancer include bilateral salpingo-oophorectomy (risk-reducing salpingo-oophorectomy (RRSO)). The role of hysterectomy is unclear. We sought to determine outcomes following prophylactic surgery in high-risk women. METHODS: We surveyed unaffected members of the Gilda Radner Familial Ovarian Cancer Registry who had undergone oophorectomy from 1981 to 2002. Data were collected and analyzed for statistical significance by the Fisher's Exact Test. RESULTS: Two hundred eighty women were surveyed, and 154 (55%) responded; 97% were Caucasian and 14% reported being Jewish. The median age of the respondents was 51 years (range 29-79); median age at oophorectomy was 41 years (range 15-68). Fifty-eight patients (38%) reported a laparoscopic procedure. One hundred five patients (68%) had a simultaneous hysterectomy, and 4 (3%) had a prior hysterectomy. Forty-four patients (29%) underwent BSO only. Of these 44 patients, 40 (91%) did not require a subsequent hysterectomy. Of the 4 who did, 2 were for leiomyomas, one for menorrhagia and the other was unknown. While not statistically significant, of the 3 patients who developed a subsequent gynecologic malignancy, all had undergone a hysterectomy. There was a statistically significant difference in whether or not the uterus was removed as part of the procedure by time period, whereby women treated prior to 1990 had a higher likelihood of having a hysterectomy (P = 0.03). CONCLUSION: The women in our study did not require hysterectomy for prevention of malignancy. We conclude that one should screen for benign gynecological indications for hysterectomy when planning a prophylactic BSO for prevention of ovarian cancer. Other potential risk factors for endometrial cancer, including the role of UPSC in HBOC, remain to be elucidated.


Assuntos
Histerectomia , Neoplasias Ovarianas/prevenção & controle , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/genética , Ovariectomia , Reoperação , Estudos Retrospectivos , Risco , Fatores de Tempo , Resultado do Tratamento
11.
Int J Gynecol Pathol ; 23(1): 29-34, 2004 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-14668547

RESUMO

Studies of the histopathology of ovarian cancer arising in patients with germline mutations in BRCA1 or BRCA2 have shown inconsistent findings. We analyzed the large number of tumors from women enrolled in the Gilda Radner Familial Ovarian Cancer Registry for correlations between histopathology and BRCA mutation status. Histopathology slides and reports were reviewed for histology, grade, and stage for cancers of the ovary or peritoneum in 220 women from 126 Gilda Radner Familial Ovarian Cancer Registry families. At least one affected member of each family was analyzed for mutations in the BRCA1 and BRCA2 genes, and tumors from mutation-positive families were compared with those from mutation-negative families. Of 70 patients from 38 BRCA1-positive families, 69 had epithelial ovarian carcinoma and one had a dysgerminoma. Fifteen of 16 patients from nine BRCA2-positive families had epithelial ovarian cancer, and one had a primary peritoneal cancer. Of 134 patients from 79 BRCA-negative families, 118 had epithelial ovarian carcinoma, 11 had ovarian borderline tumors, three had nonepithelial tumors, and two had primary peritoneal carcinoma. There were fewer grade 1 (p < 0.001) and stage I (p = 0.005) cancers in patients from BRCA-positive families than in patients from BRCA-negative families. Neither mucinous nor borderline tumors were found in the BRCA-positive families. In conclusion, ovarian cancers arising in women from BRCA-positive families are more likely to be high-grade and have extraovarian spread than tumors arising in women from BRCA-negative families. Borderline and mucinous tumors do not appear to be part of the phenotype of families with germline mutations in the BRCA genes.


Assuntos
Genes BRCA1/fisiologia , Genes BRCA2/fisiologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Sistema de Registros , Feminino , Humanos , Mutação , Estadiamento de Neoplasias , Polimorfismo Conformacional de Fita Simples
13.
Genes Chromosomes Cancer ; 37(2): 222, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12696073
14.
Cancer Res ; 63(2): 417-23, 2003 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-12543797

RESUMO

Metaphase comparative genomic hybridization was used to analyze the spectrum of genetic alterations in 141 epithelial ovarian cancers from BRCA1 and BRCA2 mutation carriers, individuals with familial non-BRCA1/2 epithelial ovarian cancer, and women with nonfamilial epithelial ovarian cancer. Multiple genetic alterations were identified in almost all tumors. The high frequency with which some alterations were identified suggests the location of genes that are commonly altered during ovarian tumor development. In multiple chromosome regions, there were significant differences in alteration frequency between the four tumor types suggesting that BRCA1/2 mutation status and a family history of ovarian cancer influences the somatic genetic pathway of ovarian cancer progression. These findings were supported by hierarchical cluster analysis, which identified genetic events that tend to occur together during tumorigenesis and several alterations that were specific to tumors of a particular type. In addition, some genetic alterations were strongly associated with differences in tumor differentiation and disease stage. Taken together, these data provide molecular genetic evidence to support previous findings from histopathological studies, which suggest that clinical features of ovarian and breast tumors differ with respect to BRCA1/2 mutation status and/or cancer family history.


Assuntos
Genes BRCA1 , Genes BRCA2 , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Aberrações Cromossômicas , Feminino , Heterozigoto , Humanos , Hibridização de Ácido Nucleico
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