RESUMO
Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally. G banded chromosome analysis revealed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique. Fetal delayed cortical development will be the findings to perform further investigations including fluorescence in situ hybridization analysis for MDS, a 17p13.3 microdeletion syndrome, pre/postnatally. This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.
Assuntos
Bandeamento Cromossômico/métodos , Cromossomos Humanos Par 17/genética , Cromossomos Humanos X/genética , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico , Doenças Fetais/diagnóstico , Hibridização in Situ Fluorescente/métodos , Translocação Genética/genética , Adulto , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética , Feminino , Doenças Fetais/genética , Humanos , Recém-Nascido , MasculinoRESUMO
BACKGROUND: Lower extremity lymphedema (LEL) is a serious complication caused by lymphadenectomy in patients with gynecologic malignancies. In this study, we evaluated the effect of preserving the circumflex iliac lymph nodes (CILNs), i.e., the most caudal external iliac lymph nodes, for the prevention and reduction of LEL by comparing two groups of patients, one in which CILN were removed and the other in which CILNs were preserved. METHODS: We retrospectively reviewed 329 patients with gynecologic malignancies who had undergone abdominal complete systematic pelvic and para-aortic lymphadenectomy. The patients were divided into nonpreserved (n = 189) and preserved (n = 140) groups, depending on whether CILNs were removed. Primary outcome measures included the incidence and severity of LEL. RESULTS: The incidence of LEL was significantly lower in the preserved group than in the nonpreserved group (P < 0.0001). The frequency of LEL was also significantly lower in the preserved group than in the nonpreserved group regardless of the range of pelvic and para-aortic lymphadenectomy (P < 0.0001). LEL in the overwhelming majority of cases in the preserved group was mild, and no patients experienced severe LEL. Further, the incidence of cellulitis was 0% in the preserved group, while it was 12.7% in the nonpreserved group (P < 0.0001). Lymphoscintigraphy revealed collateral pathways from the preserved CILN along the iliac and large abdominal vessels. CONCLUSIONS: This method of lymph node preservation is a simple and extremely effective approach for preventing/reducing LEL after pelvic and para-aortic lymphadenectomy for patients with gynecologic malignancies.
Assuntos
Neoplasias dos Genitais Femininos/cirurgia , Extremidade Inferior , Excisão de Linfonodo , Linfedema/prevenção & controle , Pelve/cirurgia , Adulto , Idoso , Feminino , Neoplasias dos Genitais Femininos/patologia , Humanos , Linfocintigrafia , Pessoa de Meia-Idade , Pelve/patologia , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: The survival effects of combined organ resection in cytoreductive surgery for advanced ovarian carcinoma with regard to the site and the number of organs involved have not yet been clarified. METHODS: Data obtained from 143 patients with stage III/IV ovarian carcinoma were used for analysis. Combined organ resection (COR) was employed in 21 patients in whom optimal cytoreduction (defined as a residuum Assuntos
Carcinoma/mortalidade
, Carcinoma/cirurgia
, Neoplasias Ovarianas/mortalidade
, Neoplasias Ovarianas/cirurgia
, Adulto
, Idoso
, Idoso de 80 Anos ou mais
, Protocolos de Quimioterapia Combinada Antineoplásica
, Carcinoma/tratamento farmacológico
, Carcinoma/patologia
, Estudos de Coortes
, Terapia Combinada
, Intervalo Livre de Doença
, Feminino
, Seguimentos
, Humanos
, Histerectomia/métodos
, Pessoa de Meia-Idade
, Estadiamento de Neoplasias
, Neoplasias Ovarianas/tratamento farmacológico
, Neoplasias Ovarianas/patologia
, Ovariectomia/métodos
, Exenteração Pélvica
, Probabilidade
, Estudos Retrospectivos
, Medição de Risco
, Taxa de Sobrevida
, Resultado do Tratamento
RESUMO
BACKGROUND: We wanted to investigate the clinical usefulness of determining the pretreatment levels of multiple serum tumor markers in predicting lymph node status and the prognosis for patients with cervical carcinoma. METHODS: The preoperative serum levels of squamous cell carcinoma antigen (SCC), cancer antigens CA125 and CA19-9 were assayed simultaneously in 103 patients with stages IB to IIB cervical SCC undergoing radical hysterectomy. The cut-off values of SCC, CA125, and CA19-9 in this study were 1.5 ng/ml, 35 U/ml, and 37 U/ml, respectively. The relation between preoperative tumor marker levels and histopathologic prognostic factors including lymph node metastasis and patient survival was studied. RESULTS: Preoperative serum SCC, CA125, and CA19-9 levels were significantly related to the FIGO stage. In addition, serum SCC and CA125 levels were significantly related to tumor diameter, depth of cervical stromal invasion, lymph-vascular space invasion, and lymph node metastasis. We subsequently created a double-tumor-marker (DTM) index, which incorporated the number of positive markers of SCC and CA125. The DTM index was strongly related to the number of positive pelvic lymph nodes (p = 0.0002) and to the site of positive nodes (none vs. pelvic only vs. common iliac/paraaortic) (p = 0.0005). Probability of lymph node metastasis according to the DTM index = 0, 1, and 2 was 6/48 (12.5%), 14/45 (31.1%), and 8/10 (80.0%), respectively. The rate of common iliac/paraaortic node metastasis according to the DTM index = 0, 1, and 2 was 1/48 (2.1%), 2/45 (4.4%), and 3/10 (30.0%), respectively. By logistic regression analysis, it was shown that the DTM index and tumor diameter were independently related to lymph node metastasis. Using multivariate Cox regression analysis including singly determined serum SCC and CA125 levels, clinical stage (IB/IIA vs. IIB), tumor diameter (
Assuntos
Biomarcadores Tumorais/sangue , Neoplasias de Células Escamosas/sangue , Neoplasias de Células Escamosas/secundário , Serpinas , Neoplasias do Colo do Útero/sangue , Neoplasias do Colo do Útero/patologia , Adulto , Idoso , Antígenos de Neoplasias/sangue , Antígeno Ca-125/sangue , Antígeno CA-19-9/sangue , Intervalo Livre de Doença , Feminino , Humanos , Japão/epidemiologia , Linfonodos/patologia , Metástase Linfática , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias de Células Escamosas/imunologia , Neoplasias de Células Escamosas/mortalidade , Neoplasias de Células Escamosas/cirurgia , Pelve , Valor Preditivo dos Testes , Cuidados Pré-Operatórios , Análise de Sobrevida , Neoplasias do Colo do Útero/imunologia , Neoplasias do Colo do Útero/mortalidade , Neoplasias do Colo do Útero/cirurgiaRESUMO
BACKGROUND: The aim of this study was to identify the independent histopathologic prognostic factors for patients with cervical carcinoma treated with radical hysterectomy including paraaortic lymphadenectomy. METHODS: A total of 187 patients with stage IB to IIB cervical carcinomas treated with radical hysterectomy and systematic retroperitoneal lymphadenectomy were retrospectively analyzed. The median follow-up period was 83 months. Cox regression analysis was used to select independent prognostic factors. RESULTS: Using multivariate Cox regression analysis, lymph node (LN) status (negative vs. metastasis to pelvic nodes except for common iliac nodes vs. common iliac/paraaortic node metastasis), histopathologic parametrial invasion, lymph-vascular space invasion (LVSI), and histology of pure adenocarcinoma were found to be independently related to patients' poor survival. For patients who had a tumor histologically confined to the uterus and have neither parametrial invasion nor lymph node metastasis, LVSI was the most important prognostic factor, and histologic type, depth of cervical stromal invasion, and tumor size were not related to survival. The survival of patients with a tumor extending to parametrium or pelvic lymph node(s) was adversely affected by histology of pure adenocarcinoma. When the tumor extended to common iliac or paraaortic nodes, patients' survival became quite poor irrespective of LVSI or histologic type of pure adenocarcinoma. Patients' prognosis could be stratified into low risk (patients with a tumor confined to the uterus not associated with LVSI: n = 80), intermediate risk (patients with a tumor confined to the uterus associated with positive LVSI, and patients with squamous/adenosquamous carcinoma associated with pelvic lymph node metastasis or parametrial invasion: n = 86), and high risk (patients with pure adenocarcinoma associated with pelvic lymph node metastasis or parametrial invasion, and patients with common iliac/paraaortic node metastasis: n = 21) with an estimated 5-year survival rate of 100 +/- 0 (mean +/- SE)%, 85.5 +/- 3.9%, and 25.1 +/- 9.7%, respectively. CONCLUSIONS: LN status, parametrial invasion, LVSI, and histology of pure adenocarcinoma are important histopathologic prognostic factors of cervical carcinoma treated with radical hysterectomy and systematic retroperitoneal lymphadenectomy. Prognosis for patients with cervical carcinoma may be stratified by combined analysis of these histopathologic prognostic factors. Postoperative therapy needs to be individualized according to these prognostic factors and validated for its efficacy using randomized clinical trials.