A rare case of a 39 year old male with a parasite called Dioctophyma renale mimicking renal cancer at the computed tomography of the right kidney. A case report

We present a very rare case of a 39 year old patient with Dioctophyma renale depicted as a Bosniak cyst IV of the right kidney who was finally subjected to a robotic assisted radical nephrectomy.     

Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma

Over the past decade cancer-causing genes have been identified for the most common histologic types of renal cancer, specifically clear cell, papillary type 1 and papillary type 2. Genes predisposing to the more rare chromophobe renal carcinoma and renal oncocytoma were unknown until the recent discovery of a novel gene, BHD, on chromosome 17p that was found to be mutated in the germline of affected family members with the Birt-Hogg-Dubé (BHD) syndrome. These patients develop the hallmark BHD skin lesions (fibrofolliculomas), lung cysts and spontaneous pneumothorax. Importantly, BHD patients have an increased risk for developing a variety of renal neoplasia, most commonly chromophobe and oncocytic hybrid tumors. This review will describe the phenotypic manifestations of BHD including the histologic features of BHD-associated renal tumors, the identification of this novel renal cancer-predisposing gene, the BHD mutation spectrum found in BHD patients, and will discuss the potential role of BHD as a tumor suppressor gene.     

Metastases to skeletal muscles and interferon treatment.

Blood-borne metastases to a skeletal muscle are rare and may originate in various primary tumors. Recurrent solitary metastasis of renal cell carcinoma, and metastatic lesion as part of disseminated malignant melanoma in skeletal muscles are reported in two patients. In both cases interferon treatment with or without chemotherapy failed in arresting the disease.     

Masson’s tumor of the kidney: a case report

Background

Intravascular papillary endothelial hyperplasia (known also as Masson’s tumor) is a benign vascular lesion that commonly occurs in the skin and is rarely found in solid organs, especially in the kidney. In what follows, we will look into the first case of an unexpectedly diagnosed Masson’s tumor of the kidney presenting as a suspicious renal cyst.

Case presentation

A 61-year-old Arab man presented with a left renal cyst, incidentally revealed by ultrasonography. The laboratory values were unremarkable. Computed tomography and magnetic resonance imaging demonstrated a 38 mm left renal midportion Bosniak IV cyst. Our patient underwent a radical nephrectomy. Histopathology revealed the diagnosis of intravascular papillary endothelial hyperplasia. There was no recurrence detected after 9 years of follow-up.

Conclusions

Renal intravascular papillary endothelial hyperplasia is a rare benign tumor which can mimic a suspicious renal mass on radiological findings. Thus, this entity should be considered more often in the thick of the diagnostic possibilities in order to avoid unnecessary nephrectomies.

     

131I Hippuran Renogram in Acute Renal Failure

A hippuran renogram pattern of the type usually interpreted as indicating urinary tract obstruction was seen in acute tubular necrosis and was present both in the oliguric and in the diuretic phase. It seems that in acute renal failure the renogram does not distinguish urinary tract obstruction from intrinsic renal disease.     

Cytologic and histologic findings in multiple renal hybrid oncocytic tumors in a patient with Birt-Hogg-Dubé syndrome: a case report

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant neoplastic syndrome characterized by multiple skin lesions, lung cysts and renal tumors. A variety of histologic types of renal tumors have been reported, including clear cell renal cell carcinoma (RCC), papillary RCC, chromophobe RCC, oncocytoma and a recently described hybrid oncocytic tumor, which is thought to be highly associated with BHD. CASE: We report a case of a 48-year-old woman with BHD who initially presented to our institution with spontaneous pneumothorax and was found to have multiple lung cysts and renal tumors on computed tomography. We describe the fine needle aspiration findings of one of the renal tumors, which was suggestive of so-called hybrid oncocytic tumor. We also describe the gross and histologic findings of the multiple kidney tumors that the patient subsequently had excised. CONCLUSION: When multiple kidney tumors from a single patient appear oncycytic on fine needle aspiration, especially when focal clear cells are present, the possibility of oncocytomas and hybrid tumors associated with BHD must be entertained.     

Rat renal carcinogenesis after chronic simultaneous exposure to lead acetate and N-nitrosodiethylamine

Chronic oral administration of lead acetate and/or N-nitrosodiethylamine to rats produces three different types of renal cell tumors composed of basophilic, chromophobic or oncocytic cells. The most frequent tumor, often visible macroscopically, is made up of basophilic cells and forms tubular, cystic, pseudo-papillary or solid structures; it may show considerable cellular atypia but does not metastasize or invade the surrounding parenchyma. Chromophobic and oncocytic tumors are rare and can only be detected with the microscope; they usually form cystic or solid structures. Basophilic and chromophobic tumors arise from specific segments of the proximal tubules, characteristic for each carcinogen: P2, P3C and P3M for lead acetate; P2 and P3C for N-nitrosodiethylamine. Karyomegalia in proximal tubule cells appears to be irrelevant in renal carcinogenesis. However, the appearance of basophilic and chromophobic cells in P2, P3C and P3M segments is considered to be an early change in tumor development. Oncocytic microadenomas originate from collecting ducts showing focal oncocytic transformation. Synergistic or inhibitory effects are not observed after chronic simultaneous administration of lead acetate and N-nitrosodiethylamine, although both carcinogens act in common on P2 and P3C proximal tubule segments.     

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study

Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by tumors on the vestibular branch of the VIII cranial nerve, but other types of nervous system tumors usually occur as well. Genotype-phenotype correlations are well documented for overall NF2 disease severity but have not been definitively evaluated for specific types of non-VIII nerve tumors. We evaluated genotype-phenotype correlations for various types of non-VIII nerve tumors in 406 patients from the population-based United Kingdom NF2 registry, using regression models with the additional covariates of current age and type of treatment center (specialty or nonspecialty). The models also permitted consideration of intrafamilial correlation. We found statistically significant genotype-phenotype correlations for intracranial meningiomas, spinal tumors, and peripheral nerve tumors. People with constitutional NF2 missense mutations, splice-site mutations, large deletions, or somatic mosaicism had significantly fewer tumors than did people with constitutional nonsense or frameshift NF2 mutations. In addition, there were significant intrafamilial correlations for intracranial meningiomas and spinal tumors, after adjustment for the type of constitutional NF2 mutation. The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors.     

Primary Ewing's sarcoma of the kidney: a case report

Primary adult Ewing's sarcoma is a rare entity. They most commonly occur in children and young adults. 6% of them are localized extraosseously. We present a case of a 51 year old patient with primary renal Ewing's sarcoma and multiple metastases in liver and iliac bone. Patients with metastatic disease are usually treated with aggressive chemotherapy and have a poor outcome. Our patient underwent complete surgical excision of tumour, and was treated with aggressive chemotherapy, respectively. Two and half years after presentation he is well, without any symptoms.     

多囊肾病动物模型的研究进展

多囊肾病(Polycystic kidney disease,PKD)是以肾脏充满多个液性囊泡,细胞增殖异常,间质炎细胞浸润及细胞外基质重塑等病理特点为主的遗传性疾病。主要分为常染色体显性多囊肾病(Autosomal dominant polycystic kidney disease,ADPKD)及常染色体隐性多囊肾病(Autosomal recessive polycystic kidney disease,ARPKD)。ADPKD更为常见,发病率约为1:500-1000,约50%的患者到60岁会发展为终末期肾脏病。ARPKD较少见,发病率约为1:20000-1:40000,患者多在婴幼儿时期死亡。目前,一旦多囊肾发展为终末期肾脏病,除了肾脏移植和透析外没有更有效的治疗方法,因此,早期的诊治对延缓多囊肾进展及防止其发展为终末期肾脏病是至关重要的。多囊肾动物模型的建立在研究多囊肾疾病具体发病机制及新药研发中具有重要意义。本文介绍了PKD疾病动物模型的研究进展,包括经典PKD自发模型、化学诱导模型及基因修饰模型。     

Histology,Protein Clearances,and Response to Treatment in the Nephrotic Syndrome

In a group of 400 nephrotic patients, both adults and children, the histological picture seen on renal biopsy, the selectivity of differential protein clearances, and the response to corticosteroid therapy where applied were studied. The only discernible difference was that of the relative incidence of underlying renal disease; in particular, the much greater incidence of “minimal change” lesions and the near absence of glomerular disease secondary to systemic disorders in children. Highly selective differential protein clearances were strongly associated with response to steroids within eight weeks, and this depended on the relation between this type of protein clearance and the minimal change lesion, which was the only histological appearance associated with complete response to corticosteroid therapy within eight weeks. Neither renal biopsy nor studies of proteinuria allowed prediction of which responding patients would subsequently relapse.Studies of differential protein clearances allow the paediatrician to avoid renal biopsy with safety in nephrotic children aged 1 to 5 years, but cannot distinguish any given renal disease with certainty. Generalized diseases affecting the kidney are usually associated with poorly selective differential protein clearances. Within all groups the most severe changes were usually associated with the least selective differential protein clearances, and vice versa.     

Renal collecting duct carcinoma. Report of a case with cytologic findings on fine needle aspiration

BACKGROUND: Collecting duct carcinoma (CDC) of the kidney is a rare type of renal cell carcinoma (RCC) of collecting duct origin. Cytologic differentiation of CDC from conventional RCC is important because CDC has a poorer prognosis than the latter. CASE: A 60-year-old male incidentally demonstrated a left renal mass that was hypovascular by angiography. Fine needle aspiration (FNA) revealed numerous clusters of cells arranged in a tubular structure. The cells consisted of highly atypical cells having large nuclei with coarse or vesicular chromatin, prominent nucleoli and lacy or granular cytoplasm. Based on these findings, which were indicative of high grade RCC, he underwent left radical nephrectomy and lymphadenectomy. Histologic and immunohistochemical findings, including anti-high-molecular-weight cytokeratin (HMCK) antibody, confirmed the diagnosis of CDC. CONCLUSION: CDC should be added to the differential diagnosis when the result of cytologic examination of a renal mass is suggestive of high grade RCC. These features of FNA smears, together with HMCK immunohistochemistry, can be useful for the cytologic differential diagnosis of renal tumors.     

成人弯刀综合症1例并相关文献复习

目的:探讨我院1例成人弯刀综合症患者的临床表现、诊断手段及治疗方法。方法:简要陈述我院1例成人弯刀综合症患者的入院基本情况及诊疗过程,调研并结合相关文献进行复习。结果:该患者结合临床表现,通过超声心动图、胸部后前位X片及右心导管造影等检查,结果证实该患者右下肺静脉畸形引流,诊断为弯刀综合症,并进行相关对症治疗及后续生活和治疗指导。结论:弯刀综合症为一种罕见而复杂的先天性心肺血管疾病,属于肺静脉畸形引流的一个类型(心下型),病因不明,此病在成人中更为少见,该病的诊断主要依赖于右心导管术和心血管造影以及一些影像学手段,成人型多以保守对症治疗为主,若出现严重症状者则选择外科手术纠正畸形引流治疗。     

Retraction Note: Neuropathological and neuroprotective features of vitamin B12 on the dorsal spinal ganglion of rats after the experimental crush of sciatic nerve: an experimental study

The tumor suppressor gene CDC73 was found to be associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is characterized by parathyroid adenoma or carcinoma, ossifying fibroma (OF) of the jaws, and renal and uterine lesions. Mutations in CDC73 have also been frequently detected in sporadic parathyroid carcinomas and renal tumors. However, the prevalence and range of CDC73 mutations in sporadic OFs have not been established. We directly sequenced coding and flanking splice junctional regions of CDC73 in 40 cases of sporadic OF of the jaws. We also used immunohistochemistry to detect parafibromin, the protein product of CDC73, in those cases. Two novel CDC73 mutations were identified in 2 of the 40 cases (5 %). Both were somatic mutations located in exon 1 of the coding region. Strong parafibromin expression was detected in all 40 cases, irrespective of the presence of CDC73 mutations. Mutations inCDC73 were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small subset of tumors of this type.     

Fine needle aspiration cytology of rare malignant tumors of the breast.

This report describes the fine needle aspiration (FNA) cytologic findings in 17 rare malignant breast tumors. The series consisted of invasive cribriform carcinoma, papillary carcinoma, apocrine carcinoma, carcinoma with pseudosarcomatous metaplasia, carcinosarcoma, fibrosarcoma, malignant phyllodes tumors, primary malignant lymphomas, plasmocytoma, metastatic melanoma and metastatic renal clear cell carcinoma. Besides cytomorphology, the results of immunostaining in eight cases are presented, as is a review of the literature. It is important for rare primary malignancies, as well as for metastatic tumors, to be diagnosed, or at least have the diagnosis suggested, preoperatively by FNA and immunocytochemistry, permitting better therapy planning.     

Poliomyelitis; effect of Salk vaccine on severity of paralysis

Nevi are the most common tumors of childhood. Pigmented nevi are classified into blue nevi, intraepidermal nevi, junction nevi, intradermal nevi (or common mole) and combination types. Cutaneous malignant disease in children is rare. Malignant melanoma is rare before puberty. Wholesale removal of benign pigmented nevi in children should be condemned. However, junction nevi located on the palms, soles, genitalia or waistline-that is, in areas subject to frequent trauma-should be excised. Hemangiomas in infants are the most common tumors for which advice is sought. Not all hemangiomas regress spontaneously, and on occasion the persistence or progression of such a lesion may bring about life-long unsightly deformities. Therapy for this type of tumor is simple when given early in life. Hemangiomas involving the ears, nose, lips or eyelids should be treated at once, preferably within a month of the time they appear.     

Relapsing polychondritis with crescentic glomerulonephritis.

Relapsing polychondritis is rare and its cause is unknown. The tissues affected are those with a high glycosaminoglycan content, such as cartilage, the aorta, the sclera and cornea, and parts of the ear. Symptoms can usually be controlled with oral steroids, but when there is coexistent progressive crescentic glomerulonephritis quadruple chemotherapy may be used. Three cases of the clinical syndrome of relapsing polychondritis were studied in which rapidly progressive cresentic glomerulonephritis developed. In two the patients appeared to respond to aggressive treatment with immunosuppressive agents and anticoagulants. The multisystemic nature of the disease, the renal lesions, and the response to treatment all suggested that the condition might be related to periarteritis nodosa.     

Benign mixed epithelial stromal tumor of the renal pelvis with exophytic growth: case report

Background

Mixed epithelial and stromal tumor (MEST) is a distinctive benign composite neoplasm of the kidney predominantly seen in females mostly in the perimenopausal period. Although these tumors are known to arise from renal pelvis, our case was distinct in that it had no intrapelvic component growing in exophytic fashion.

Case report

A 35 year old female patient presented to us with vague abdominal pain. She had undergone excision of bilateral ovarian cystic masses for cystic teratoma twelve years earlier. A computed tomography scan of abdomen and pelvis showed a 9 × 7 cm uniformly solid mass with poor contrast enhancement situated in the inferomedial aspect of the left kidney. On exploration, the mass was arising from the inferior and anterior aspect of left renal pelvis, and was attached to it with a narrow pedicle. There was no adherence or attachment to the renal parenchyma. The mass was excised preserving the kidney. Microscopically, the tumor was composed of large collagenized areas containing bundles of spindle cells and several 'microcysts' lined by cuboidal epithelium suggestive of a benign mixed epithelial stromal tumor.

Discussion

Mixed epithelial tumors usually present in perimenopausal women as a partially cystic mass. Tumors are composed of irregular mixtures of cystic and solid areas, glands with variable complexity and distribution and the stromal component is characterized by a spindle cell proliferation. Commonly, it arises from the renal parenchyma and pelvis and nephrectomy is advocated to manage these tumors.

Conclusion

MEST is a distinctive benign tumor of the kidney that should be distinguished from other renal neoplasms. MEST arising from the renal pelvis and growing exophytically is a rare entity. The overall prognosis is favorable.

     

Langerhans cell histiocytosis: report of a single organ involvement in a child

Langerhans cell histiocytosis is a rare disorder characterized by abnormal proliferation of Langerhans cells that can affect various organ systems. The disease usually presents as a unifocal lytic bone lesion and can affect any age group. Less frequently it presents as a disseminated disease with multisystem involvement. Hepatic manifestation in Langerhans cell histiocytosis is relatively rare and usually presents as a part of a disseminated process. We report a case of Langerhans cell histiocytosis involving only the liver in a 9-years-old child.