Showing papers on "Papillary renal cell carcinomas published in 1999"

Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

Abstract: Background Birt-Hogg-Dube syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with BHD. Objective To evaluate kindreds with familial renal tumors for cutaneous manifestations of BHD. Design One hundred fifty-two patients from 49 families underwent complete oral and skin examination. Skin lesions were identified by their clinical appearance, and the diagnosis was confirmed by results of histologic examination. Individuals underwent screening for familial renal neoplasms. Setting A tertiary referral research hospital. Patients Individuals with familial renal tumors and their asymptomatic at-risk relatives. Main Outcome Measure We determined whether any form of renal cancer is associated BHD. Results We identified 3 extended kindreds in whom renal neoplasms and BHD appeared to segregate together. Two kindreds had renal oncocytomas and a third had a variant of papillary renal cell carcinoma. Thirteen patients exhibited BHD. Seven individuals, including a set of identical twins, had renal neoplasms and BHD. An additional 4 patients (3 deceased and not examined) in these families had renal neoplasms but not BHD. Birt-Hogg-Dube syndrome without renal neoplasms was present in 6 individuals. Thirteen patients with fibrofolliculomas and trichodiscomas presented clinically with multiple smooth skin-colored to grayish-white papules located on the face, auricles, neck, and upper trunk. Oral papules were present in 9 of 28 and achrochordons in 11 of 28 patients. Features of BHD not previously appreciated included deforming lipomas in 5, collagenomas in 4, and pulmonary cysts in 4 of 28 patients. Families with BHD did not display germline mutations in the von Hippel-Lindau gene or in the tyrosine kinase domain of theMETproto-oncogene. Conclusions Birt-Hogg-Dube syndrome may be associated with familial renal tumors. Birt-Hogg-Dube and renal tumors segregate together in an autosomal dominant fashion. Patients with BHD and their relatives are at risk for development of renal tumors. Therefore, patients with BHD and their relatives should undergo abdominal computed tomography and renal ultrasound screening for renal tumors.

Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype.

Abstract: Germline mutations of c-met oncogene at 7q31 have been detected in patients with hereditary papillary renal cell carcinoma. In addition, c-met mutations were shown to play a role in 13% of patients with papillary renal cell carcinoma and no family history of renal tumors. The histopathology of papillary renal cell carcinoma with c-met mutations has not been previously described. We analyzed the histopathology of 103 bilateral archival papillary renal cell carcinomas and 4 metastases in 29 patients from 6 hereditary papillary renal cell carcinoma families with germline c-met mutations and 6 papillary renal cell carcinomas with c-met mutations from 5 patients with no family history of renal tumors. Twenty-five sporadic renal tumors with prominent papillary architecture and without somatic c-met mutations were evaluated for comparison. All papillary renal cell carcinomas with c-met mutations were 75 to 100% papillary/tubulopapillary in architecture and showed chromophil basophilic, papillary renal cell carcinoma type 1 histology. Fuhrman nuclear grade 1–2 was seen in tumors from 23 patients, and nuclear grade 3 was observed focally in 8 patients. Seventeen patients had multiple papillary adenomas and microscopic papillary lesions in the surrounding renal parenchyma. Clear cells with intracytoplasmic lipid and glycogen were focally present in tumors of 94% papillary renal cell carcinoma patients. Clear cells of papillary renal cell carcinoma had small basophilic nuclei, and clear cell areas lacked a fine vascular network characteristic of conventional (clear) cell renal cell carcinoma. We conclude that papillary renal cell carcinoma patients with c-met mutations develop multiple, bilateral, papillary macroscopic and microscopic renal lesions. Renal tumors with c-met genotype show a distinctive papillary renal cell carcinoma type 1 phenotype and are genetically and histologically different from renal tumors seen in other hereditary renal syndromes and most sporadic renal tumors with papillary architecture. Although all hereditary and sporadic papillary renal cell carcinomas with c-met mutations share papillary renal cell carcinoma type 1 histology, not all type 1 sporadic papillary renal cell carcinomas harbor c-met mutations.

Renal cell carcinomas in children and young adults: increased incidence of papillary architecture and unique subtypes.

Abstract: Renal cell carcinomas in children and young adults are rare, and the pathologic features of these tumors have not been well described. We reviewed 24 renal cell carcinomas in children and young adults ages 6 to 29 years, 14 of whom were younger than 18 years of age. Fourteen were female. In 19 (79%) of 24 cases, the tumor met histologic criteria for papillary renal cell carcinoma, with at least 50% papillary architecture. Four of the remaining five cases were typical clear cell tumors in patients known to have von Hippel Lindau syndrome, and one case was of chromophobe type. In the papillary tumors, calcifications, high nuclear grade, extracapsular extension (American Joint Commission on Cancer stage T3), and lymph node metastases were common. Among these papillary tumors, four distinct histologic patterns could be identified. Collecting duct-like tumors (two cases) involved the large collecting ducts, were multifocal and predominantly papillary, and had focal tubular and solid areas. These tumors were reactive for epithelial membrane antigen (EMA) and keratins, including CK7, but negative for Ulex europeaus and high molecular weight keratin 34BE12. Voluminous cell tumors (four cases) were composed of cells with extremely voluminous clear cytoplasm and, although predominantly papillary, had areas that also resembled clear cell tumors. These tumors were reactive for keratins AE1/AE3 but were otherwise negative for all other keratins, EMA, and U. europeaus. One of these tumors showed an X;7 translocation. Adult type tumors (12 cases) resembled papillary tumors of adults. These tumors were reactive for EMA and keratins, including CK7, and all but one were negative for U. europeaus and keratin 34BE12. This last case had trisomies of chromosomes 7, 16, 17, and 20. The final neuroendocrinelike case was multifocal, organoid, and composed of nests of small cells in a neuroendocrinelike pattern. Three of 13 patients were alive with disease at last follow-up, and three additional patients died of disease, all within 2 years. Progression was highly associated with lymph node involvement at the time of resection. We conclude that the clinicopathologic features of renal cell carcinomas in children and young adults differ from those arising in older adults. These tumors are characteristically high-grade, high-stage, papillary tumors with numerous calcifications, and several subtypes can be identified based on histologic, immunohistochemical, and cytogenetic features. Some subtypes appear to be unique to this age group.

Papillary renal cell carcinoma with clear cell cytomorphology and chromosomal loss of 3p.

Abstract: Aims Cytogenetic studies on renal cell carcinomas (RCCs) have disclosed a correlation between chromosome aberrations and histomorphological features. Nevertheless, it is still controversial whether the cytomorphology of the tumour cells (clear cell, chromophilic, chromophobe) or their growth pattern (nonpapillary, papillary) is more discriminative for the combined histomorphological–cytogenetic classification of RCCs. Methods and results Three RCCs with papillary growth pattern and clear cell cytomorphology were analysed by classical cytogenetics using standard G-banding techniques. Each tumour displayed clonal aberrations leading to loss of terminal 3p chromosomal segments. Monosomy 14 was also consistently found. Trisomy 17 was not observed in any of the tumours. Conclusions This series of three RCCs consisting of clear cells with papillary architecture revealed chromosomal aberrations characteristic for the conventional (clear cell) RCC. Irrespective of the predominant papillary growth pattern, none of the cases were characterized by trisomy of chromosomes 3q, 7, 8, 12, 16, 17 and 20 and loss of Y chromosome which are widely regarded as the most consistent genetic alterations for papillary RCC. Therefore, our cytogenetic findings provide evidence that papillary clear cell RCCs should be classified according to their cytomorphology rather than their growth pattern even when papillary architecture is prominent.

Papillary (chromophil) renal cell carcinoma with mucinous secretion.

Abstract: We investigated the presence of mucin in a series of 20 papillary renal cell carcinomas. Acid mucin was present in three cases (15%), in which basophilic mucin secretion was evident with hematoxylin-eosin. This secretion reacted positively with Mayer's mucicarmine, Alcian blue and high-iron diamine, but was negative for PAS in all the cases, indicating the presence of sulphomucins. We describe two different types of mucin secretion: luminal and intracytoplasmic. The secretion was abundant, diffuse or extensive, luminal in two cases and intracellular in numerous scattered tumor cells in one case. All tumors were < 3 cm in diameter (low grade, stage I). In the three mucin-secreting papillary tumors mentioned above, the immunohistochemical and lectin studies indicate both a proximal and a distal tubular staining pattern. Mucinous secretion in these tumors can be ascribed either to modulation or direct metaplasia of the tumor epithelium. Mucin production, despite its low frequency, can be considered an additional feature of papillary renal cell carcinoma. Thus, the presence of luminal or intracytoplasmic mucin deposition does not exclude papillary renal cell carcinoma from the differential diagnosis in cases of intra- or extrarenal carcinomas.

Papillary renal cell carcinoma presenting as nodal metastases to the neck.

Abstract: Renal cell carcinoma, in a high percentage of patients, metastasizes early, sometimes mimicking other lesions. We present a case of an asymptomatic papillary renal cell carcinoma that presented neck metastases as the initial manifestation. The laterocervical and supraclavicular masses were considered consistent with nodal metastases from a thyroid nodule. A hemithyroidectomy was performed before the renal tumor was diagnosed. Then the patient underwent a left-side radical nefrectomy. We discuss the unpredictability of the clinical course of renal cell carcinoma.

Birt-Hogg-Dubé syndrome : A novel marker of kidney neoplasia

Abstract: Background: Birt-Hogg-Dube syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with BHD. Objective: To evaluate kindreds with familial renal tumors for cutaneous manifestations of BHD. Design: One hundred fifty-two patients from 49 families underwent complete oral and skin examination. Skin lesions were identified by their clinical appearance, and the diagnosis was confirmed by results of histologic examination. Individuals underwent screening for familial renal neoplasms. Setting: A tertiary referral research hospital. Patients: Individuals with familial renal tumors and their asymptomatic at-risk relatives. Main Outcome Measure: We determined whether any form of renal cancer is associated BHD. Results: We identified 3 extended kindreds in whom renal neoplasms and BHD appeared to segregate together. Two kindreds had renal oncocytomas and a third had a variant of papillary renal cell carcinoma. Thirteen patients exhibited BHD. Seven individuals, including a set of identical twins, had renal neoplasms and BHD. An additional 4 patients (3 deceased and not examined) in these families had renal neoplasms but not BHD. Birt-Hogg-Dube syndrome without renal neoplasms was present in 6 individuals. Thirteen patients with fibrofolliculomas and trichodiscomas presented clinically with multiple smooth skin-colored to grayish-white papules located on the face, auricles, neck, and upper trunk. Oral papules were present in 9 of 28 and achrochordons in 11 of 28 patients. Features of BHD not previously appreciated included deforming lipomas in 5, collagenomas in 4, and pulmonary cysts in 4 of 28 patients. Families with BHD did not display germline mutations in the von Hippel-Lindau gene or in the tyrosine kinase domain of the MET proto-oncogene. Conclusions: Birt-Hogg-Dube syndrome may be associated with familial renal tumors. Birt-Hogg-Dube and renal tumors segregate together in an autosomal dominant fashion. Patients with BHD and their relatives are at risk for development of renal tumors. Therefore, patients with BHD and their relatives should undergo abdominal computed tomography and renal ultrasound screening for renal tumors.

Epidemiology of Renal Cell Carcinoma

Abstract: Kidney cancer is a relatively rare malignancy In the United States, there are roughly 30 000 new cases of kidney cancer each year, accounting for approximately 2% of all incident cancer cases diagnosed annually (Parker et al 1996)

Papillary Renal Cell Carcinoma An Incidental Finding

Abstract: Papillary renal cell carcinoma comprises approximately 10% of all renal cell carcinomas. This subtype has a slower growth pattern, has less extensive involvement, and portends a better prognosis than do nonpapillary renal cell carcinomas. Papillary renal carcinomas tend to be avascular or hypovascular on ultrasound examination. It is important not to mistake this lack of vascularity as a sign of benign tumor. The sonographic appearance of papillary renal cell carcinomas is variable, but most display low-level echoes. This case study demonstrates an incidental finding of a typical presentation of papillary renal cell carcinoma in a patient with no symptoms.

Clinicopathologic and cytologic features of a metanephric adenoma of the kidney: a case report.

Abstract: Metanephric adenoma is a recently described rare and benign renal neoplasm. Our patient, a 37-year-old woman, suffered from flank pain for five months and was found to have a renal mass. Ultrasound, computerized tomography and angiography findings were consistent with a hypovascular renal cyst. Wilms' tumor was the initial misdiagnosis, based on needle biopsy and aspiration cytology. A radical nephrectomy was performed. Histologically, the tumor was well defined and was composed of uniform small cells arranged in a solid, tubular or rosette-like pattern. The prognosis is good for metanephric adenoma. The tumor was first considered a benign counterpart of papillary carcinoma or Wilms' tumor; however, recent cytogenetic evidence suggested that the tumor might be related to papillary adenoma and papillary renal cell carcinoma. The clinical, radiologic, histologic and cytologic features presented here should help to promote the correct preoperative diagnosis and to avoid unnecessary aggressive treatment.

Genetics of Renal Cell Carcinoma

Abstract: The classification of renal cell carcinomas is still a matter of debate. The World Health Organization (WHO) nomenclature subdivided renal tumors into adenomas, carcinomas (with and without papillary growth pattern), and others (Murphy et al. 1994). A new refined classification of renal cell tumors was suggested by Thoenes et al. (1986), based not on the growth pattern but on the cell type from which they are derived in different parts of the tubules. Five basic tumor cell types can thus be distinguished: clear and chromophilic cells derived from the proximal tubules; chromophobe and oncocytic cells derived from the cortical connecting tubules and Bellini duct cells derived from the medullary connecting duct. Variants can be assigned to all these basic cells, resulting from an accumulation of mitochondria (eosinophilic variants). An ultimate form of dedifferentiation may occur when spindle cells (sarcomatoid transformation) are present in a smaller or greater part of a tumor together with any of the basic cell subtypes (carcinomatous area). In 1995, two new subtypes were introduced, neuroendocrine renal cell carcinoma and metanephric adenomas (Storkel and van den Berg 1995).

Pathology of Renal Cell Carcinoma

Abstract: Renal cell carcinomas (RCCs) are clinically, histologically, and genetically a very heterogeneous group of tumors. This heterogeneity is a well-known complicating factor in the diagnosis. The histogenesis of RCC was controversial for a long time, especially in terms of the thesis originally expressed by Virchow and advocated by Grawitz that certain clear cell epithelial renal tumors are derived from ectopic adrenocortical elements (Grawitz 1883). This has led to the terms “hypernephroma,” “Grawitz tumor,” and “hypernephroid renal carcinoma.” Today, preference is given to renal tubular histogenesis, mainly on the basis of animal experiments with carcinogens and observation of prestages and early stages of epithelial renal tumors in human kidneys (Bannasch and Zerban 1990).

Two cases of papillary renal cell carcinoma of the kidney.

Abstract: 乳頭状腎細胞癌 (Papillary renal cell carcinoma; PRCC) の2例を経験したので報告する.症例1は60歳男性で左腎下極に1.5cm大の腫瘍を2個認め, 症例2は62歳男性で左腎上極に壊 死を伴う5.0cm×4.0cm大の腫瘍を認めた. 色調はいずれも黄茶褐色で被膜を有していた. 細胞像では, 泡沫細胞を背景として異型細胞の乳頭状集塊を認めた. 腫瘍細胞の核は小型, 円～類円形でクロマチン増量を示し, 核溝も散見された. 核小体は小型もしくは認めず, 胞体は穎粒状を呈し細胞形は類円～長円形であった. 症例1では細胞質内穎粒を認めた. 組織学的には, いずれも好酸性細胞からなる乳頭状腫瘍で乳頭内への泡沫細胞浸潤を伴い, 症例1では, neuromelaninと考えられる細胞質内穎粒を認めた. 免疫組織学的にはいずれの腫瘍も遠位尿細管系マーカーに優位な染色性を示した. また, in situ hybridization (ISH) 法では, いずれの腫瘍にも17番染色体のtrisomyが認められた. 2例とも術後1年余り経過しているが, 再発・転移の徴候はない. PRCCは通常の腎細胞癌と比べ, 予後良好であることが知られており, 本腫瘍を正確に診断することは臨床的あるいは予後判定に重要であると考えられる.

Expression of fibroblast growth factors in human non-papillary renal cell carcinoma: Correlation with tumor progression

Abstract: Recently, several investigators have demonstrated that fibroblast growth factor-2 (FGF-2) plays a crucial role in the malignant progression of human renal cell carcinoma (RCC). However, the significance of other FGFs in RCC remains largely unknown.