INTRODUCTIONTo review the perioperative and short-term outcome of all laparoscopic partial nephrectomies (LPN) performed in a single institution.

MATERIALS AND METHODSThirteen consecutive patients who underwent LPN since the beginning of the programme in March 2002 to January 2008 were enrolled. Demographic, perioperative and follow-up data were retrospectively collected. Transperitoneal approach was used in all cases, and vascular control was achieved with the use of a laparoscopic Satinsky clamp or vascular tape. The tumour was excised using cold scissors. Transected intrarenal vessels were suture ligated and the parenchymal defect was closed primarily with absorbable suture over a bolster.

RESULTSThirteen patients underwent a total of 14 LPN. The median age of patients was 60 years (range, 41 to 77). The mean tumour size was 24 +/- 11.4 (2SD) mm. The mean operative time was 228 +/- 129 (2SD) minutes and median warm ischaemia time was 35 minutes (range, 24 to 68). Postoperatively, serum haemoglobin level decreased by a mean of 1.4 +/- 2.5 (2SD) gm/dL and serum creatinine increased by a mean of 22.5 +/- 25.8 (2SD) micromol/L. Twelve out of 13 (92%) patients achieved their baseline serum creatinine level within 1 month postoperatively. There was 1 open conversion (7%), and 2 patients (14%) required blood transfusion perioperatively. Two patients (14%) had transient fever postoperatively due to basal atelectasis. No other complications were encountered. Median patient hospital stay was 4 days (range, 2 to 10). Eleven out of 14 (79%) of the tumours were renal cell carcinoma (RCC). At a median follow-up of 12 months (range, 6 to 53), all except 1 patient with RCC were disease-free.

CONCLUSIONSOur experience has shown that laparoscopic partial nephrectomy is a safe, feasible technique in our centre for patients with small exophytic renal tumours. Patients can be discharged early with preservation of renal function and good early cancer control.

Adult ; Aged ; Carcinoma, Renal Cell ; surgery ; Female ; Hospitals, General ; Humans ; Kidney Neoplasms ; surgery ; Laparoscopy ; methods ; Length of Stay ; Male ; Middle Aged ; Nephrectomy ; methods ; Retrospective Studies ; Singapore

Unusual sites of metastases are recognized in patients with renal cell carcinoma (RCC). However, the prognostic implications of these sites are not well understood. We used the Memorial Sloan-Kettering Cancer Center (MSKCC) risk classification for metastatic RCC to evaluate 912 consecutive patients with RCC managed at the Singapore General Hospital between 1990 and 2009. Among these patients, 301 had metastases either at diagnosis or during the course of illness. Nasal metastases, all arising from clear cell RCC, were identified histologically in 4 patients (1.3% of those with metastasis). All 4 patients were classified as MSKCC poor prognosis by current risk criteria. Nasal metastases were significantly associated with lung and bone metastases. The frequency of nasal metastases in patients with metastatic RCC is about 1%, occurring predominantly in patients with clear cell RCC. Nasal metastases are associated with poor prognosis as estimated by the MSKCC risk classification, with attendant implications for selection of targeted therapy, and are usually associated with multi-organ dissemination, including concurrent lung and bone involvement.
Antineoplastic Agents ; therapeutic use ; Bone Neoplasms ; secondary ; Carcinoma, Renal Cell ; diagnostic imaging ; secondary ; therapy ; Female ; Humans ; Indoles ; therapeutic use ; Kidney Neoplasms ; diagnostic imaging ; pathology ; therapy ; Lung Neoplasms ; secondary ; Male ; Middle Aged ; Nephrectomy ; Nose Neoplasms ; pathology ; secondary ; therapy ; Pyrroles ; therapeutic use ; Skull Neoplasms ; diagnostic imaging ; secondary ; Tomography, X-Ray Computed

Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a congenital defect in the Mullerian duct that results in the absence of a uterus in women. The aetiology of this syndrome is unknown and has been considered a sporadic genetic disease. MRKH, together with anorectal anomaly, is an extremely rare condition and has only been reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula) was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit (ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3, STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them, the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27 biological processes that connected with 23 interactions, and are likely to cause MRKH syndrome in this patient.