Molecular genetic analysis of primary renal epithelial tumours with granular oncocytic cytoplasms / Análisis genético molecular de tumores epiteliales renales primarios con citoplasma oncocítico granular

SUMMARY: The group of primary renal tumours with granular-oncocytic cytoplasm is a very heterogeneous group, in its histological origin and biological behavior resulting in many diagnostic problems. In this study 57 renal epithelial tumours with granular oncocytic cells were analyzed using fluorescence in situ hybridisation (FISH), array comparative genomic hybridisation (aCGH) and polymerase chain reaction (PCR). The results of analysis in renal oncocytoma (RO) did not indicate the presence of the gene mutations or chromosomal abnormalities. Sporadic renal hybrid oncocytic/chromophobe tumours (HOCT) had multiple numerical aberrations of chromosomes 1, 2, 6, 9, 10, 13, 17, 20, 21 and 22. This type of tumour had no mutations in the VHL, c-kit, PDGFRA, and FLCN genes. Oncocytic papillary renal cell carcinoma (O-PRCC) had numerical abnormalities of chromosomes 7 and 17 and the loss of the Y chromosome. Cytogenetic analysis of 20 pigmented microcystic chromophobe renal cell carcinomas (PMChRCC) showed monosomy as the most frequent aberration in all analyzed chromosomes 1, 2, 5, 10, 13, 17 and 21. One case of chromophobe renal cell carcinoma (ChRCC) with hyaline globules had a mutation in the distal part of exon 3 of the VHL gene. Absence of genetic disorders in usual RO is common result, but we have established absence of genetic disorders even in rare variants. Variety of genetic alterations detected in sporadic renal HOCT proves it to be a separate entity, not a variant of ChRCC, while PMChRCC is an uncommon variant of ChRCC. O-PRCC is a subtype of papillary renal cell carcinoma.

RESUMEN: El grupo de tumores renales primarios con citoplasma granular-oncocítico es un grupo muy heterogéneo, en su origen histológico y comportamiento biológico, resultando en problemas de diagnóstico. En el estudio se analizaron 57 tumores epiteliales renales con citoplasma oncocítico granular mediante hibridación fluorescente in situ (FISH), hibridación genómica comparativa de matriz (aCGH) y reacción en cadena de la polimerasa (PCR). Los resultados del análisis en oncocitoma renal (RO) no indicaron la presencia de mutaciones genéticas ni anomalías cromosómicas. Los tumores oncocíticos / cromófobos híbridos renales esporádicos (HOCT) tenían múltiples aberraciones numéricas de los cromosomas 1, 2, 6, 9, 10, 13, 17, 20, 21 y 22. No se observaron mutaciones en este tipo de tumor en el VHL, c-kit, PDGFRA y genes FLCN. El carcinoma de células renales papilar oncocítico (O-PRCC) tenía anomalías numéricas de los cromosomas 7 y 17 y la pérdida del cromosoma Y. El análisis citogenético de 20 carcinomas de células renales cromófobos microquísticos pigmentados (PMChRCC) mostró que la monosomía era la aberración más frecuente en todos los cromosomas analizados 1, 2, 5, 10, 13, 17 y 21. Un caso de carcinoma de células renales cromófobo (CCRc) hialino tenía una mutación en la parte distal del exón 3 del gen VHL. La ausencia de trastornos genéticos en la OI habitual es un resultado común, pero hemos establecido la ausencia de trastornos genéticos incluso en variantes raras. Varias alteraciones genéticas detectadas en esporádica HOCT renal demuestran que es una entidad separada, no una variante de ChRCC, mientras que PMChRCC es una variante poco común de ChRCC. O-PRCC es un subtipo de carcinoma papilar de células renales.

Successful Laparoscopic Removal of a Self-Inflicted Thermometer that Spontaneously Migrated into the Peritoneal Cavity.

A sixty-three-year-old Caucasian male was referred to emergency service 10 hours after self-infliction of a mercury glass thermometer into the urethra. The patient presented without abdominal or voiding symptoms. Radiologicalimaging confirmed the presence of a thermometer in the peritoneal cavity, without signs of contrast leakage from the bladder. The patient underwent suture of the perforation site with a subsequent successful removal of the foreign body using laparoscopic approach. Recovery was uneventful.To the best of our knowledge, we are not aware of any previous report of laparoscopic removal of a mercury glass thermometer from the peritoneal cavity. Laparoscopic removal of fragile items, such as a thermometer, is obviously feasible but associated with substantial risks.

Preservation surgery in patients with localized renal cell cancer--nephron sparing surgery.

INTRODUCTION: Renal Cell Cancer ( RCC) is third most frequent urological cancer behind Prostate cancer and Bladder cancer. It represents 2-3 % of all cancers with annual increase in incidence of 2% in Europe (except Denmark and Sweden) and worldwide. Surgery is the only curative procedure, performed as radical nephrectomy (RN) or partial nephrectomy (nephron sparing surgery-NSS). Radical nephrectomy consists of nephrectomy with ipsilateral adrenalectomy and lymphadenetomy, but partial nephrectomy means resection of the tumor only with 1-3 mm of healthy surrounding tissue and preservation of the rest of the kidney as well as ipsilateral adrenal gland and lymph nodes. NSS is a method of conservation of attacked kidney and preservation of kidney's function with previous radical resection of localized RCC, respecting of all oncological principles. The aim of this study is to describe NSS procedure in details and present results of its 13 year use at Clinic of Urology in Novi Sad. MATERIAL AND METHODS: In the last 13 years there were 868 patients (pts) with RCC. NSS has been performed in 242 pts (27.88%). Bilateral tumors: synchronous 8 pts, asynchronous 3 pts. Better kidney has been operated, first. Indications for NSS were: absolute--34 pts (15.0%), relative--58 pts (23.1%) and elective--150 pts (61.9%).Surgery was performed according to esta- blished protocol for this procedure based on recommendation of Prof. A. Novick, Cleveland, USA. RESULTS: All patients underwent surgery under general anesthesia through lumbothomy, mostly.Tumor size was between 2.5-4.5 cm: over 4.5 cm (4-7 cm): 4 pts. Average age of pts--63.5 years (37-84), male: 148 (61.1%), female: 94 (38.9%). From 2001-2005, 2006-2010 i 2011-2013, 39,111 i 92 NSS has been done, respectively. It represented 13.5%, 36.6% , 50.54% of all pts with RCC underwent surgery in that period, respectively. There was an increase of NSS in that period compared to RN for localized RCC. There were no death outcomes inpts underwent NSS, local recurrence was seen in 1 patient (0.6%), urine leakage > 2 weeks 5 pts (5/242 = 2.06%),severe hemorrhage: 3 pts (1.23%), nephrectomy has been done. We do not have patients with von Hippel Landau (VHL) disease. CONCLUSION: Nephron sparing surgery Is the first choice of surgery for patients with low grade kidney tumors (up to 4.5 cm, even 7 cm), has excellent onco- logical results-comparable with radical nephrectomy, but with preservation of renal function and should be done by an experienced urological team in specialized urological centers with good anesteziological support.

[Current diagnostic and therapeutic approaches to invasive bladder cancer].

INTRODUCTION: Bladder cancer is the second most common urological cancer (after prostate cancer, and before kidney and testicular tumors). After setting a diagnosis for bladder cancer, transitional cell carcinoma (TCC), 25% of pts have extravesical spread of the disease, and almost 50% dies in the follow-up period and after radical surgical procedures. About 30-40% pts develop a recurrence, even after radical cystectomy is preformed, and with negative lymph nodes. T2 stage is underestimated in 40-50% of cases, whereas lymph nodes are positive in 10% of cases in T1 stage of the disease. The aim of this study was to present modern diagnostic-therapeutic procedures, which are being used in multimodal treatment of invasive bladder tumors (surgery, chemotherapy, radiotherapy), indications for their use, and treatment outcome in regard to the stage of the disease. PATHOLOGICAL DIAGNOSIS: Pathological diagnosis is a key factor for correct and on-time treatment. Pathological diagnosis is made by the biopsy of the tumor. Clinical diagnosis is made by using modern diagnostic procedures (ECHO, CT, MRI, PET scan), and tumor markers (DNA content, p-53, E-Catherine, pRb -retinoblastoma, BCL-2, PCNA, telomerase, NMP-22, BTA-test, etc.). TREATMENT OF BLADDER CANCER: Treatment of bladder tumors is multimodal, multidisciplinary and includes surgery, chemotherapy and radiotherapy. In regard to indications and established protocols, surgery is partial, simple or radical cystectomy, followed by different types of urine derivation (wet stoma--Bricker's ileal conduit, dry stoma--Kock pouch, ureterosigmoidostomy--Mainz pouch II, or orthotopic ileal bladder substitution). The use of new operative procedures can be done only during the early stage of the disease. Orthotopic substitution of bladder with ileum, significantly improves the quality of life in these patients. Also, the use of new chemotherapeutics (Methotrexate, Vinblastine, Cisplatine, Gemcitabine, Taxol, alone or in combination) or radiotherapy together with surgery increases the survival rate, even in patients with invasive form of disease. CONCLUSION: Using new diagnostic equipment, up-to date therapeutic procedures, bladder cancer becomes a curable disease (depending on the stage of the disease) with high survival rate and better quality of life.