Clear Cell Papillary Renal Cell Carcinoma: A Recent Entity With Distinct Imaging Patterns.

Clear cell papillary renal cell carcinoma (RCC), an entity with strikingly indolent behavior, recently was added to the World Health Organization classification of renal tumors and represents the fourth most common histologic type of renal cell carcinoma. This article aims to describe the imaging features of clear cell papillary RCC along with its clinical and pathologic characteristics. This retrospective study consisted of 27 patients with 44 clear cell papillary RCC tumors.

Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome that is the main cause of inherited clear-cell renal cell carcinoma (ccRCC), which generally occurs in the form of multiple recurrent synchronized tumors. Affected patients are carriers of a germline mutation in the VHL tumor suppressor gene. Somatic mutations of this gene are also found in sporadic ccRCC and numerous pan-genomic studies have reported a dysregulation of microRNA (miRNA) expression in these sporadic tumors.

Paraganglioma of the bladder in a kidney transplant recipient: A case report.

Renal transplantation has been associated with a significantly increased risk of developing cancer, including bladder neoplasia, with urothelial carcinoma being the most frequent type of bladder cancer. Bladder paraganglioma, also referred to as extra-adrenal pheochromocytoma, is a rare but severe condition that may cause a severe hypertensive crisis during handling and mobilization of the tumor. We herein present the case of a 67-year-old kidney transplant recipient with a bladder polyp consistent with paraganglioma of the bladder.

Increased risk of solid renal tumors in lithium-treated patients.

Cystic kidney diseases and toxic interstitial nephritis may be complicated by renal tumors. Long-term lithium intake is associated with tubulointerstitial nephritis and renal cysts but to date such an association with tumors has not been determined. We evaluated this in a retrospective study to determine whether lithium-treated patients were at higher risk of renal tumors compared with lithium-free patients with chronic kidney disease (CKD), and to the general population.

Expression and characterization of androgen receptor coregulators, SRC-2 and HBO1, during human testis ontogenesis and in androgen signaling deficient patients.

Androgen receptor (AR) is essential for testicular physiology and spermatogenesis. SRC-2 and HBO1 are two AR coregulators yet their expression and roles in human testis are unknown. For the first time, we studied by immunohistochemistry and RT-PCR, the expression and distribution of these two coregulators during human testicular ontogenesis, in patients with altered AR signaling (Androgen insensitivity syndrome, AIS) and evaluated the functional impact of SRC-2 and HBO1 on AR signaling in a Sertoli cell context.

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.

Background: Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affected individuals are histologically similar to sporadic chromophobe renal cell carcinoma (RCC) and sporadic renal oncocytoma. However, most sporadic tumors lack FLCN mutations and the extent to which the BHDS-derived renal tumors share genetic defects associated with the sporadic tumors has not been well studied.

Anorectal Epstein-Barr virus infection mimicking Hodgkin lymphoma in an immunocompetent man.

Anorectal Hodgkin lymphoma (HL) is rare, mainly described in human immunodeficiency virus (HIV) patients with exceptional cases reported in immunocompetents. We report the case of a middle age HIV male, presenting with intestinal occlusion. Rectosigmoidoscopy showed multiple anorectal nodular and ulceronecrotic masses.

Prognostic significance of new immunohistochemical markers in refractory classical Hodgkin lymphoma: a study of 59 cases.

Although most classical Hodgkin lymphoma patients are cured, a significant minority fail after primary therapy and may die as result of their disease. To date, there is no consensus on biological markers that add value to usual parameters (which comprise the International Prognostic Score) used at diagnosis to predict outcome. We evaluated 59 patients (18 with primary refractory or early relapse disease and 41 responders) for bcl2, Ki67, CD20, TiA1 and c-kit expression by semi-quantitative immunohistochemical study and correlated the results with the response to treatment.

Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature.

We report clinicopathologic features of a large series of renal translocation carcinomas from a multicentric study. Diagnosis was performed by cytogenetic examination of fresh material and/or by immunochemistry with antibodies directed against the C-terminal part of transcription factor E3 (TFE3) and native transcription factor EB (TFEB) proteins. Clinical data, follow-up, and histologic features were assessed.

[Diagnosis of renal metanephric adenoma: relevance of immunohistochemistry and biopsy].

Most renal tumors of the adult are carcinomas. Their treatment is surgical, consisting of limited excision or nephrectomy. In some instances, biopsy of the tumor can be performed in order to adapt treatment.

Dramatic clinical efficacy of cladribine in Rosai-Dorfman disease and evolution of the cytokine profile: towards a new therapeutic approach.

Rosai-Dorfman disease (RDD) is a rare disorder, often benign but with possible life-threatening prognosis. In most cases, specific treatment is not necessary; when required, the management of RDD is not codified to date, and various chemotherapies have been shown to be ineffective. Here, we report a patient with RDD who presented a dramatic and sustained response with cladribine.

Renal cell carcinoma with an Xp11.2 translocation in a 16-year-old girl: a case report with cytological features.

We report a case of a 16-year-old girl with a left renal tumor discovered by her family practitioner. On physical examination the patient had a painless abdominal mass, located in the upper medium portion of the abdomen on the left side with a voussure of the abdominal wall. Ultrasound and abdominal pelvic CAT scan revealed a large heterogeneous mass with calcifications in the inferior portion of the left kidney.

Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations.

Background: The proband, a 33-year-old woman, presented with renal cysts, mild renal failure and a renal tumor. One of the proband's two sons had hyperechogenic kidneys and the other had renal cortical microcysts. Her 71-year-old mother had mild renal failure and small renal cysts.

Intravascular lymphoma associated with haemophagocytic syndrome: a very rare entity in western countries.

Intravascular lymphoma (IVL) is a rare and aggressive disorder, characterised by frequent cutaneous and neurological involvement and medullary infiltration. In rare cases particularly in Asia, IVL can be associated with haemophagocytic syndrome (IVL-HS). Here, we report the case of a 61-year-old Caucasian female who presented with IVL-HS.

[Tumors of the kidneys: new entities].

Since 1998 new entities have surfaced in renal tumor classification and have been included in the WHO 2004 classification. In this article, we will discuss the following entities: multilocular clear cell renal carcinoma, Xp11 translocation carcinoma, low grade mucinous tubular carcinoma, epithelioid angiomyolipoma, benign mixed epithelial and stromal tumor. We will investigate new concepts of hybrid oncocytoma and chromophobe renal cell carcinoma and the syndrome of Birt-Hogg-Dube which is associated to kidney tumors.

[Pediatric non-Hodgkin lymphomas].

Non Hodgkin lymphoma represent about 5% of childhood cancer. They are the third most common group of cancers in children and adolescents, after cerebral tumours and leukemias. They differ from adult lymphomas as they are all high grade tumours, always diffuse and often associated with extra-nodal diseases.

Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

Mutations in one copy of the hepatocyte nuclear factors (HNF) 1alpha and 1beta homeodomain containing transcription factors predispose the carrier to maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. Moreover, previous identification of biallelic inactivation of HNF1alpha in hepatocellular adenoma identified its tumor suppressor function in hepatocarcinogenesis. The seminal observation of an ovarian carcinoma in a MODY5 patient who subsequently developed a chromophobe renal cell carcinoma, prompted us to screen for HNF1beta and HNF1alpha inactivation in a series of 20 ovarian and 35 renal neoplasms.

[Histological features of cutaneous secondary syphilitic lesions: a report of two cases].

Syphilis is a sexually transmitted infectious disease, which currently shows a high increase of incidence in HIV negative patients. These patients often seek medical advice at a stage of secondary syphilis, as the lesions of the primary phase may pass unperceived. Very often, the diagnosis is evoked through a cutaneous biopsy, since the clinical presentation is often misleading.

Hemophagocytic syndrome as a presenting sign of transformation of smoldering to acute adult T-cell leukemia/lymphoma: efficacy of anti-retroviral and interferon therapy.

A 55-year-old Caribbean woman with a 6-year history of smoldering adult T-cell leukemia/lymphoma presented with clinical and biological symptoms of hemophagocytic syndrome. An extensive search for infectious diseases was negative. A lymph node biopsy showing large T-cell lymphoma (CD4-, CD25+) and findings of high LDH count and severe lymphocytosis led to the diagnosis of acute adult T-cell leukemia/lymphoma.