PER3 polymorphisms and their association with prostate cancer risk in Japanese men

Introduction: Prostate cancer (PCa) is one of the most common cancers affecting men globally. Although PER3 has been suggested as a risk factor for cancer development, there are few reports elucidating the relationship between PER3 and PCa. We investigated the association between PER3 polymorphisms (rs2640908 and VNTR) and susceptibility to PCa in the Japanese population. Methods: Eighty three patients with PCa and 122 controls participated in this study. We analyzed rs2640908 and VNTR polymorphisms by using PCR–Restriction Fragment Length Polymorphism (PCR–RFLP). Results: Compared to the C/C genotype with the rs2640908 polymorphism, the T/T (OR: 0.35, 95% CI: 0.15–0.81, P = 0.02) and C/T + T/T (OR: 0.46, 95% CI: 0.24–0.88, P = 0.02) genotypes had a significantly lower risk of PCa. TT (OR: 0.29, 95% CI: 0.10–0.77, P = 0.02) and CT + TT (OR: 0.47, 95% CI: 0.23–0.97, P = 0.04) also had significant protection against PCa in the smoker group. Significantly, we observed an association between smoking and rs2640908 polymorphism in this study. However, no association between the VNTR polymorphisms and PCa was detected. Conclusions: Our results suggest that PER3 rs2640908 polymorphisms influence an individual’s susceptibility to PCa

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy

Background: Multiple common variants and also rare variants in monogenic risk genes such as BRCA2 and HOXB13 have been reported to be associated with risk of prostate cancer (PCa); however, the clinical setting in which germline genetic testing could be used for PCa diagnosis remains obscure. Herein, we tested the clinical utility of a 16 common variant-based polygenic risk score (PRS) that has been developed previously for Japanese men and also evaluated the frequency of PCa-associated rare variants in a prospective cohort of Japanese men undergoing prostate biopsy. Methods: A total of 1336 patients undergoing first prostate biopsy were included. PRS was calculated based on the genotype of 16 common variants, and sequencing of 8 prostate cancer-associated genes was performed by multiplex polymerase chain reaction based target sequencing. PRS was combined with clinical factors in logistic regression models to assess whether addition of PRS improves the prediction of biopsy positivity. Results: The top PRS decile was associated with an odds ratio of 4.10 (95% confidence interval = 2.46 to 6.86) with reference to the patients at average risk, and the estimated lifetime absolute risk approached 20%. Among the patients with prostate specific antigen 2-10 ng/mL who had prebiopsy magnetic resonance imaging, high PRS had an equivalent impact on biopsy positivity as a positive magnetic resonance imaging finding. Rare variants were detected in 19 (2.37%) and 7 (1.31%) patients with positive and negative biopsies, respectively, with BRCA2 variants being the most prevalent. There was no association between PRS and high-risk rare variants. Conclusions: Germline genetic testing could be clinically useful in both pre- and post-PSA screening settings

症候性の常染色体優性嚢胞腎に対して経カテーテル的動脈塞栓療法を行った後にSecond-Line治療として後腹膜鏡下腎摘術を行った1例

Patients with autosomal dominant polycystic kidney disease (ADPKD) often suffer from abdominal symptoms. Although laparoscopic nephrectomy has been reported as a minimally invasive therapy, it is still technically demanding due to the large size of the kidneys. Transarterial embolization (TAE) is one of the alternatives, but there are only limited reports on its application in ADPKD. We describe a case in which bilateral nephrectomy was performed as a second-line treatment after TAE. One kidney was removed because a small feeding arterial branch was not completely embolized. The other kidney was removed due to infection. Retroperitoneoscopic nephrectomy was a good choice as a second-line modality in the case without infection because the volume of the kidney was reduced even with incomplete TAE, and adhesion after TAE was minimal. TAE is an effective choice in ADPKD patients without infection as a first-line treatment even when complete embolization is difficult, since nephrectomy after TAE is technically easier than removal of a fresh ADPKD kidney.常染色体優性嚢胞腎(ADPKD)の患者では腹部症状を認めることが多い。腹腔鏡下腎摘術は低侵襲治療として報告されているが、腎が大きいため高度の技術を要する。経カテーテル的動脈塞栓術(TAE)は有効な選択肢の1つであるが、ADPKDに対する報告は限られている。われわれは、ADPKDに対しTAEを行った後にSecond-Line治療として両側の後腹膜鏡下腎摘術を行った1例を報告する。一方の腎は細い栄養血管が完全に塞栓されていなかったために腎摘術を要した。もう一方の腎は感染のコントロールができず腎摘術を要した。TAE後の後腹膜鏡下腎摘術は、感染を伴わない腎では癒着も少なく、たとえ不完全なTAEであっても腎が小さくなっているために容易でありSecond-Line治療として有効であった。またTAEは、感染を伴わない症例ではたとえ完全な塞栓が難しくても後の腎摘術が容易になるため、First Line治療として有効な選択肢であると考えられた。(著者抄録

初回治療寛解の21年後に再発した精巣腫瘍の1例

症例は42歳, 男性。AFP値が高いことを指摘されて当院を紹介受診した。この患者は21年間に非セミノーマの右精巣腫瘍の治療歴があった。当院受診時のCTでは右腎静脈から大動脈分岐まで下大静脈を圧排するような形で5×5cmの腫瘍を認めた。当院入院後, シスプラチン・エトポシド・パクリタキセル・イフォスファミドの4剤を併用した化学療法を施行した。しかし, 腫瘍は縮小せずAFP値も上昇した。そのためリンパ節郭清術・右腎摘出術・十二指腸部分切除術・下大静脈切除術を施行した。術後AFP値は正常範囲内に低下して, 現在約48ヵ月経過しているが再発は認めていない。(著者抄録)We report here a case of very late relapse of a nonseminomatous germ cell tumor 21 years after first complete remission. A 42-year-old man, with a clinical history of right testicular cancer, was referred to our hospital with elevated serum alpha-fetoprotein (AFP) level. CT scan demonstrated a 5 x 5 cm retroperitoneal lymph node swelling compressing the inferior vena cava (IVC) extending from the right renal vein down to the bifurcation of the aorta. The patient received a total of four courses of combination chemotherapy consisting of cisplatin, etoposide, paxlitaxel, and ifosfamide. However, the retroperitoneal lymph node metastasis did not respond to chemotherapy, and the serum AFP level increased. Extended bilateral retroperitoneal lymph node dissection with right nephrectomy, partial duodenectomy, and vena cavectomy were performed. The patient has been followed up with no evidence of disease for 48 months after the operation without any further therapy

CT evaluation of acupuncture needles inserted into sacral foramina.

OBJECTIVE: To use CT scanning to evaluate the precision with which acupuncture needles can be inserted into sacral foramina to establish sacral nerve modulation by electroacupuncture.METHODS: The subjects were five adult women (mean age 71.6 years). These five cases were divided into two groups. In the first three subjects (group A) the intention was to insert acupuncture needles in the S3 and S4 foramina; in the remaining two subjects (group B) the intention was to insert acupuncture needles in the S2 and S3 foramina.RESULTS: CT scanning showed that in subject 1 of group A, the acupuncture needle intended for insertion in S3 was actually in the S4 foramen, and the acupuncture needle intended for insertion in S4 was actually distal to the sacral body. In subjects 2 and 3, the acupuncture needles were inserted accurately in the S3 and S4 foramina. In the three subjects who had acupuncture needles inserted in the S4 foramen, the tip of the acupuncture needle was an average distance of 6.0 mm from the rectum. The acupuncture needles inserted in subjects 4 and 5 of group B were inserted accurately into the S2 and S3 foramina.CONCLUSIONS: Inserting acupuncture needles into the sacral foramina of S2 and S3 at an angle of about 60° has the potential to be used for sacral nerve modulation by repeated electroacupuncture stimulation. Needling may be less accurate in subjects with higher body mass index. Because of the potential risk of perforating the rectum with the needle, this technique must be used by specialists only