[Renal liposarcoma clinical and pathological aspects. Case report and literature review]. / Liposarcoma renale aspetti clinici ed anatomo-patologici. Case report e revisione della letteratura.

Sarcomas of the retroperitoneum represent 0.2% of tumors and 15% of soft tissue sarcomas. Retro-peritoneal differentiated liposarcoma must be distinguished from the connective neoplasm of kidney. The main features of these tumors are: the rapid growth, infiltration of surrounding tissue, the tendency to local relapse and very fast metastasis (60-80%). Authors report a clinical case of a patient 61 old years with occasional reflected ultrasound is performed for lumbar pain a retro peritoneal mass. CT described a retro peritoneal mass that raised medially and displaced the left kidney. The patient was subjected to removal of the mass now to his kidney capsule, which was nevertheless preserved.The histological examination showed a picture of well-differentiated liposarcoma with areas of high-grade sarcoma with malignant morphology fibrohistiocytoma-like aspects and fibromyxomatosis. The well-differentiated liposarcoma has biological behavior similar to other sarcomas with high degree of adults with high local recurrence and distant metastases in 15-20% with overall mortality at 5 years about 30%. The most significant prognostic factor is the location of the cancer and the extent and degree of differentiation did not impact on the clinical prognosis is conditioned by the difficulty of obtaining a radical surgery in spite linfoadenectomia a retro peritoneal accurate.

[Fournier's disease. Clinical case]. / La malattia di Fournier. Caso clinico.

Fournier's disease is a necrotizing fasciitis that prefers the male and which is located in the perineal area. In view of possible complications related to sepsis, systemic organ impairment and high mortality, is now considered a urological emergency. The main causes are infections of urethral and anorectal tract, immunodepression syndromes, diabetes mellitus and trauma. Infections are mixed with aerobic and anaerobic germs responsible of necrosis of tissue disorders due to the phenomena of necrotizing immunovasculitis disease. We present a case of Fournier's disease in perineal area, with gangrenosum necrotic evolution treated with antibiotic therapy, curettage of the necrotic tissue and local disinfection with saline and antiseptics solution. A total parenteral nutrition to ensure maximum perineal decontamination has been made. The extensive loss of substance scrotal was rebuilt in 25- day while the anal wound has healed spontaneously after complete surgical curettage.

[Indications and limits to endourologic procedures for endometriosis of the urinary tract]. / Indicazioni e limiti delle procedure endourologiche nell'endometriosi dell'apparato urinario.

INTRODUCTION: The incidence of Urinary tract endometriosis (UTE) ranges from 1% to 3%; bladder is the most affected organ (85% of UTE), followed by ureter (12 - 14% of UTE), for which we distinguish an intrinsic very rare form and an extrinsic variety most frequently occurring in advanced pelvic endometriosis. MATERIALS AND METHODS: From 1997 to 2010, 33 surgical procedures for urologic endometriosis were performed, involving the urinary tract, in 28 patients with mean age of 31 years (25-43). The localization of endometriosis were: 7 cases in the bladder, 2 cases in the vesicoureteral tract, and 19 cases of ureteral tract only. Of these, two cases were diagnosed with an intrinsic localization. RESULTS: Overall, we performed 3 TURB, 5 partial cystectomies (2 with open surgical approach and 3 by laparoscopy procedure), 12 laparoscopic ureterolysis and simultaneous protection of the upper urinary tract with stent, 9 cases of ureterocystoneostomy (UCNS) according to Lich-Gregoire procedure, and 3 according to Boari-Kuess procedure. Of the 12 patients who underwent ureterolysis with laparoscopic and stenting procedure, five cases required a UCNS according to Lich-Gregoire technique for persistent ureteral obstruction. CONCLUSIONS: The limits of endoscopic procedures in endometriosis of the urinary tract are correlated both to the degree of extension and the localization of the disease. It is mandatory to achieve an interdisciplinary consensus in order to ensure the disease removal and the simultaneous functional results of the upper urinary tract.

[Three cases of renal cell carcinoma with sarcomatoid differentiation]. / Tre casi di carcinoma renale con differenziazione sarcomatoide.

Renal cell carcinoma with sarcomatoid differentiation has an incidence of 4-6%. It occurs more frequently with clinical advanced presentation in relation to the greater biological aggressiveness. This variant was also found both in transplanted kidneys and in patients with von Hippel-Lindau syndrome. The authors present three cases of cancer all clinically evolving to rapidly progressive conditions. The pathologic staging was, respectively: Case 1 pT4 N0 M0 G4 case, Case 2 P G4 T3a N2 M0, Case 3 pT3a N0 M1 G4. The clinical responses related to protocols with VEGF drugs that seem to have better clinical response compared to immunotherapy are still being studied. From the pathologic point of view it is necessary, for all renal cell cancers, to search and identify the sarcomatoid components that, although poorly represented, give a negative prognosis.

[A case of chronic schistosomiasis four years after infestation]. / Caso di schistosomiasi cronica a quattro anni dalla infestazione.

Authors present a case of bilharziosis incidentally diagnosed in a patient undergoing TURB for suspected bladder cancer. The patient, who in 2005 had gone to Malaysia, had been suffering from recurrent hemorrhagic cystitis since 2007, which were treated with antibiotic therapy. In November 2009 he presented to our observation for persistent hematuria, underwent ultrasound examination, fibroscopy and TURB diagnostics for suspicious lesions. The histopathology diagnosis found granulomatous lesions with typical parasites eggs due to schistosomiasis eggs. As a consequence of that, the patient underwent medical therapy. The pathologist's role becomes nullifying not only for the diagnosis of parasitic infections but also for the exclusion or evidence of urothelial squamous neoplasia. The low incidence of this rare parasitic disease in European tourists and the presence of immigrants in our country require to spread the knowledge of these parasites and the most simple tests for early detection.

[Multilocular cystic renal cell carcinoma: our experience].

Multilocular cystic renal cell carcinoma is now recognized as an independent pattern by WHO; it is a rare malignancy with a predominantly cystic growth, characterized by very low oncologic evolution and then susceptible to conservative treatment. In the kidney cystic masses of different origin may arise, i.e. due to malformation, acquired disease or tumor. Renal neoplastic lesions may have a cystic or pseudocystic component. There are also four types of neoplasm with a predominantly cystic growth, including the multilocular cystic carcinoma, which are macroscopically very similar and impossible to differentiate through diagnostic pre-operative images. The Authors present four cases of multilocular cystic renal cell carcinoma diagnosed in the 2000-2007 period, with special reference to diagnostic difficulties and to pre- and intra-operative features of the neoplasm. In conclusion, the extemporaneous histological preoperative diagnosis of multilocular cystic renal cell carcinoma is not possible because it requires extensive sampling; furthermore, the final histological diagnosis sometimes needs particular immunohistochemical procedures to be confirmed.

Abnormal regulation of HFE mRNA expression does not contribute to primary iron overload.

BACKGROUND AND OBJECTIVES: Hereditary hemochromatosis (HHC) is a common, recessively inherited, genetic disorder associated with an abnormality of the HFE gene. Subjects homozygous for a point mutation in the gene coding sequence, leading to the amino acid substitution C282Y, are usually affected by the disease. A second point mutation, causing the amino acid substitution H63D, has been described, and compound heterozygotes for the two mutations or homozygotes for the H63D mutation are at risk of developing a milder form of HHC. In populations of northern European origin the C282Y substitution accounts for more than 90% of cases of HHC. In Italy, however, fewer than 70% of patients with HHC are homozygous or compound heterozygous for HFE mutations. Even in the absence of mutations in its coding region, the HFE gene might be involved in the pathogenesis of HHC through inhibition of transcription of the gene or reduced stability of its mRNA. DESIGN AND METHODS: Since little is known about the regulation of HFE expression, we investigated 17 subjects heterozygous for one of the HFE mutations and with biochemical evidence of iron overload and compared the levels of wild type and mutated mRNAs in their peripheral blood cells. c-DNA regions flanking the mutated codons were amplified by reverse transcriptase polymerase chain reaction (PCR). PCR products derived from the two alleles were differentiated and quantified by digestion with restriction enzymes, electrophoresis in an agarose gel stained with ethidium bromide and densitometric scanning of the gel. RESULTS: In all cases wild type and mutated mRNAs were expressed at similar levels, suggesting that reduced expression of an HFE allele coding a normal protein is not involved in the pathogenesis of iron overload. However, we can not rule out that a tissue specific regulation of HFE expression in the cells directly involved in iron absorption is altered and contributes to the pathogenesis of the disease. E INTERPRETATION AND CONCLUSIONS: Our results suggest that primary iron overload is a multigenic syndrome; this hypothesis is strongly supported by the recent demonstration that the juvenile hemochromatosis locus maps to human chromosome 1q.

Unbalanced X-chromosome inactivation in haemopoietic cells from normal women.

We studied X-chromosome inactivation patterns in blood cells from normal females in three age groups: neonates (umbilical cord blood), 25-32 years old (young women group) and >75 years old (elderly women). Using PCR, the differential allele methylation status was evaluated on active and inactive X chromosomes at the human androgen receptor (HUMARA) and phosphoglycerate kinase (PGK) loci. A cleavage ratio (CR) > or = 3.0 was adopted as a cut-off to discriminate between balanced and unbalanced X-chromosome inactivation. In adult women this analysis was also performed on hair bulbs. The frequency of skewed X-inactivation in polymorphonuclear (PMN) cells increased with age: CR > or = 3.0 was found in 3/36 cord blood samples, 5/30 young women and 14/31 elderly women. Mathematical analysis of patterns found in neonates indicated that X-chromosome inactivation probably occurs when the total number of haemopoietic stem cell precursors is 14-16. The inactivation patterns found in T lymphocytes were significantly related to those observed in PMNs in both young (P < 0.001) and elderly women (P < 0.01). However, the use of T lymphocytes as a control tissue for distinguishing between skewed inactivation and clonal proliferation proved to be reliable in young females, but not in elderly women, where overestimation of the frequency of clonal myelopoiesis may appear.

Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.

Recent reports have described families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. We have studied the molecular pathogenesis of hyperferritinemia in two families showing different phenotypic expression of this new genetic disorder. Serum ferritin levels ranged from 950 to 1,890 microg/L in affected individuals from family 1, and from 366 to 635 microg/L in those from family 2. Cataract was clinically manifested in family 1 and asymptomatic in family 2. By using monoclonal antibodies specific for the H and L ferritin subunits, serum ferritin was found to be essentially L type in both normal and affected individuals. The latter also showed normal amounts of H-type ferritin in circulating mononuclear cells; on the contrary, L-type ferritin contents were 13 times normal in family 1 and five times normal in family 2 on average. Serum ferritin was glycosylated in both normal and affected individuals. There was a close relationship between mononuclear cell L-type ferritin content and serum ferritin concentration (r = 0.95, P < .00001), suggesting that the excess production of ferritin in cells was directly responsible for the hyperferritinemia. The dysregulated L-subunit synthesis was found to result from different point mutations in a noncoding sequence of genomic L-subunit DNA, which behaves as an mRNA cis-acting element known as iron regulatory element (IRE). Affected individuals from family 1 were heterozygous for a point mutation (a single G to A change) in the highly conserved, three-nucleotide motif forming the IRE bulge. Affected members from family 2 were heterozygous for a double point mutation in the IRE lower stem. Using a gel retardation assay, the observed molecular lesions were shown to variably reduce the IRE affinity for an iron regulatory protein (IRP), which inhibits ferritin mRNA translation. The direct relationship between the degree of hyperferritinemia and severity of cataract suggests that this latter is the consequence of excessive ferritin production within the lens fibers. These findings provide strong evidence that serum ferritin is a byproduct of intracellular ferritin synthesis and that the L-subunit gene on chromosome 19 is the source of glycosylated serum ferritin. From a practical standpoint, this new genetic disorder should be taken into account by clinicians when facing a high serum ferritin in an apparently healthy person.

[2 cases of unexpected anatomopathological discovery of a leiomyoma of the urogenital system]. / Due casi di inaspettato riscontro anatomopatologico di leiomioma dell'apparato urogenitale.

The authors report their recent experience in two cases of leiomyoma of the genitourinary tract not only because of relatively low incidence of this neoplasm in such sites, but especially since in the first case a previous urothelial lesion had led to the performance of a cystectomy and bilateral uretero-ileo-cutaneostomy, which led us to attribute the later urethral lesion also to a transitional-type neoplastic site; in the second case, symptomatologic evolution, palpation and scrotal echography aroused suspicion of testicular neoplasm and only the observation during surgical operation made it possible to decide for a testis-preserving therapy enabled by the reassuring extemporaneous histological report.

[Conservative surgical therapy in the treatment of renal carcinoma]. / Terapia chirurgica conservativa nel trattameno del carcinoma renale.

The authors report results in 10 patients (5 with renal neoplasms in a single kidney, 4 with healthy contralateral kidney, and one with a pathological opposite kidney following conservative surgery: 4 surgical enucleations and 6 partial nephrectomies.

Inverted urothelial papilloma: a lesion with malignant potential.

Two cases of inverted urothelial papilloma are presented. In the first case the inverted papilloma was in the ureter and varying degrees of cellular atypia were demonstrated on histology: 7 years later, a single bladder lesion consisting of papillary transitional cell carcinoma and inverted papilloma developed in the same patient. In the second case a bladder tumor consisting of inverted papilloma mixed with papillary infiltrating transitional cell carcinoma was detected. The peculiar morphological findings, histogenesis and biological behavior of inverted urothelial lesions are discussed.