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1.
Kyobu Geka ; 71(2): 139-141, 2018 Feb.
Artículo en Japonés | MEDLINE | ID: mdl-29483468

RESUMEN

A 75-year-old woman noticed a small mass in the right side breast and consulted our hospital. The results of the detailed examination indicated the synchronous double primary right breast cancer and the same side lung cancer (rS5). One-stage operation from the same skin incision was scheduled. Volume rendering (VR) of computed tomography (CT)-scan was very useful in deciding the position and the length of the skin incision. The breast tumor resection and the right middle lobe resection were successfully performed through 6.5 cm skin incision.


Asunto(s)
Neoplasias de la Mama/cirugía , Neoplasias Pulmonares/cirugía , Neoplasias Primarias Múltiples/cirugía , Anciano , Neoplasias de la Mama/diagnóstico por imagen , Procedimientos Quirúrgicos Dermatologicos , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Piel , Procedimientos Quirúrgicos Torácicos
2.
Surg Case Rep ; 2(1): 54, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27256332

RESUMEN

It has been reported that use of the free dermal fat graft (FDFG) technique produces a good cosmetic outcome for breast cancer. An FDFG is harvested from the lower abdomen as a columnar-shaped specimen and implanted into the defect of the breast after a partial mastectomy as a volume replacement technique. In this report, two patients who underwent breast-conserving surgery with immediate reconstruction using an autologous FDFG are described in order to show the difference in status between one case with and one without blood flow in the graft. To assess the benefit of this technique using FDFGs, their cosmetic satisfaction was evaluated using a questionnaire, graft shrinkage was measured by CT, and blood flow was assessed using contrast-enhanced ultrasound (CEUS). Both patients scored 10 of 12 points on the questionnaire. After 2 years, shrinkage of the grafts was 21.6 and 25.2 %, respectively. Although one patient had no blood flow in the center of the graft, the other had blood flow from the pectoralis major muscle to the center of the graft. While satisfaction and graft shrinkage were similar in the two patients, one case showed blood flow and had a somewhat softer graft than the other. The graft status was maintained with a good cosmetic outcome for 3 years after breast-conserving surgery with immediate reconstruction using an autologous FDFG, despite mild shrinkage and hardness of the graft. It is notable that blood flow was observed into the graft on CEUS, and more distinct perfusion was seen in the softer graft case after more than 3 years.

3.
Nat Genet ; 44(12): 1355-9, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23104006

RESUMEN

We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese and European ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (P = 3.6 × 10(-3)), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P <5 × 10(-8) in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the genome-wide association cohorts of European and Japanese descent (P = 8.8 × 10(-11)), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations.


Asunto(s)
Endometriosis/genética , Sitios Genéticos , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Grupo de Ascendencia Continental Asiática/genética , Proteínas Portadoras/genética , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 2/genética , Cromosomas Humanos Par 6/genética , Cromosomas Humanos Par 7/genética , Cromosomas Humanos Par 9/genética , Estudios de Cohortes , Grupo de Ascendencia Continental Europea/genética , Femenino , Humanos , Proteínas de la Membrana/genética , Proteínas de Neoplasias/genética , Polimorfismo de Nucleótido Simple , Riesgo , Índice de Severidad de la Enfermedad , Proteína Wnt4/genética
4.
Pharmacogenet Genomics ; 22(4): 229-35, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22293537

RESUMEN

OBJECTIVE: Genetic factors are thought to be one of the causes of individual variability in the adverse reactions observed in cancer patients who received gemcitabine therapy. However, genetic factors determining the risk of adverse reactions of gemcitabine are not fully understood. PATIENTS AND METHODS: To identify a genetic factor(s) determining the risk of gemcitabine-induced leukopenia/neutropenia, we conducted a genome-wide association study, by genotyping over 610 000 single nucleotide polymorphisms (SNPs), and a replication study in a total of 174 patients, including 54 patients with at least grade 3 leukopenia/neutropenia and 120 patients without any toxicities. RESULTS: We identified four loci possibly associated with gemcitabine-induced leukopenia/neutropenia [rs11141915 in DAPK1 on chromosome 9q21, combined P=1.27×10, odds ratio (OR)=4.10; rs1901440 on chromosome 2q12, combined P=3.11×10, OR=34.00; rs12046844 in PDE4B on chromosome 1p31, combined P=4.56×10, OR=4.13; rs11719165 on chromosome 3q29, combined P=5.98×10, OR=2.60]. When we examined the combined effects of these four SNPs, by classifying patients into four groups on the basis of the total number of risk genotypes of these four SNPs, significantly higher risks of gemcitabine-induced leukopenia/neutropenia were observed in the patients having two and three risk genotypes (P=6.25×10, OR=11.97 and P=4.13×10, OR=50.00, respectively) relative to patients with zero or one risk genotype. CONCLUSION: We identified four novel SNPs associated with gemcitabine-induced severe leukopenia/neutropenia. These SNPs might be applicable in predicting the risk of hematological toxicity in patients receiving gemcitabine therapy.


Asunto(s)
Proteínas Reguladoras de la Apoptosis/genética , Proteínas Quinasas Dependientes de Calcio-Calmodulina/genética , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4/genética , Desoxicitidina/análogos & derivados , Estudio de Asociación del Genoma Completo/métodos , Leucopenia/genética , Neutropenia/genética , Polimorfismo de Nucleótido Simple/genética , Anciano , Biomarcadores Farmacológicos/sangre , Proteínas Quinasas Asociadas a Muerte Celular , Desoxicitidina/efectos adversos , Desoxicitidina/uso terapéutico , Femenino , Genotipo , Humanos , Leucopenia/inducido químicamente , Masculino , Persona de Mediana Edad , Neutropenia/inducido químicamente , Factores de Riesgo
5.
Pharmacogenet Genomics ; 21(9): 552-8, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21799462

RESUMEN

OBJECTIVES: Despite long-term clinical experience with epirubicin, unpredictable severe adverse reactions remain an important determinant to limit the drug use. To identify a genetic factor(s) affecting the risk of epirubicin-induced leukopenia/neutropenia, we performed a genome-wide association study. METHODS: We studied 270 patients consisting of 67 patients with grade 3 or 4 leukopenia/neutropenia, and 203 patients showing no toxicity (patients with grade 1 or 2 were excluded from the study) for genome-wide association study. We further examined the single nucleotide polymorphisms (SNPs) showing P values of less than 0.0001 using an additional set of 48 patients with grade 3/4 leukopenia/neutropenia. RESULTS: The combined analysis indicated that rs2916733 in microcephalin 1 [combined PFisher min=2.27×10, odds ratio (OR)=2.74 with 95% confidence interval (CI)=1.96-3.83; the nonrisk genotype as reference] was significantly associated with epirubicin-induced leukopenia/neutropenia. A subgroup analysis of patients with only breast cancer showed a similar trend of association for the marker SNP rs2916733 (combined PFisher min=6.76×10, OR=2.80 with 95% CI=1.86-4.21). We subsequently performed haplotype analysis and found that a haplotype constructed from rs2916733 and rs1031309, which was in linkage disequilibrium with rs2916733 (r=0.64), showed stronger association (P=2.20×10, OR=2.88 with 95% CI=2.05-4.03) than a single landmark SNP (rs2916733; P=2.27×10, OR=2.74 with 95% CI=1.96-3.83), suggesting that causative variant(s) that could influence the susceptibility of epirubicin-induced adverse drug reactions (ADRs) might exist in this haplotype. CONCLUSION: Our findings show that genetic variants in the microcephalin 1 locus are suggestively associated with the risk of epirubicin-induced ADRs and might be applicable in development of diagnostic system for predicting the risk of the ADRs, leading to better prognosis and quality of life for patients with cancer. However, these results should be considered preliminary until replicated in adequately larger powered and controlled samples.


Asunto(s)
Antibióticos Antineoplásicos/efectos adversos , Epirrubicina/efectos adversos , Leucopenia/inducido químicamente , Leucopenia/genética , Neoplasias/tratamiento farmacológico , Proteínas del Tejido Nervioso/genética , Antibióticos Antineoplásicos/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Estudios de Casos y Controles , Neoplasias Endometriales/tratamiento farmacológico , Epirrubicina/uso terapéutico , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Japón , Desequilibrio de Ligamiento , Neoplasias Hepáticas , Masculino , Polimorfismo de Nucleótido Simple , Pronóstico , Factores de Riesgo
6.
Nat Genet ; 42(8): 707-10, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20601957

RESUMEN

Although the pathogenesis of endometriosis is not well understood, genetic factors have been considered to have critical roles in its etiology. Through a genome-wide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, we identified a significant association of endometriosis with rs10965235 (P = 5.57 x 10(-12), odds ratio = 1.44), which is located in CDKN2BAS on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA. By fine mapping, the SNP showing the strongest association was located in intron 16 of CDKN2BAS and was implicated in regulating the expression of p15, p16 and p14. A SNP, rs16826658, in the LD block including WNT4 on chromosome 1p36, which is considered to play an important role in the development of the female genital tract, revealed a possible association with endometriosis (P = 1.66 x 10(-6), odds ratio = 1.20). Our findings suggest that these regions are new susceptibility loci for endometriosis.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/genética , Estudio de Asociación del Genoma Completo , ARN sin Sentido/genética , Adulto , Susceptibilidad a Enfermedades , Endometriosis/genética , Femenino , Genes , Humanos , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple
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