Renal Cell Carcinoma In Childhood Research Articles

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt-Hogg-Dubé syndrome and Li-Fraumeni syndrome. The corresponding genes (FLCN and TP53) are both located on the short arm of chromosome 17. We describe the phenotype and performed single nucleotide polymorphism (SNP)-based loss of heterozygosity (LOH) analysis of the tumors. All examined tumors showed somatic loss of the wild-type alleles of both FLCN and TP53. We hypothesize that a synergistic effect of both mutations caused the unusual phenotype of childhood renal cell carcinoma in this family. This family emphasizes the importance of further genetic testing if a tumor develops at an unexpected young age in an inherited cancer predisposition syndrome.

Distinguishing pediatric and adolescent renal cell carcinoma from other renal malignancies.

Renal cell carcinoma (RCC) represents a small proportion of renal malignancies early in life. Distinguishing RCC from other malignancies is important as treatment strategies may differ. We analyze the Surveillance Epidemiology, and End Results (SEER) database to identify predictive factors of RCC in the pediatric population with renal tumors. We queried SEER to identify patients from ages 0 to 19 diagnosed with a renal malignancy between 1973 and 2013. Cases were sorted using histology and site codes. Age-adjusted standardized incidence rates (SIR) were calculated. We compared differences in characteristics between cancer types. A logistic regression model and a nomogram were created to identify predictors of RCC. A total of 3,670 patients were identified, of which 281 (7.7%) were diagnosed with RCC. The SIR of RCC increased with age. After age 12, RCC was found in >50% of all newly diagnosed cases. On multivariate analysis, RCC was associated with smaller tumor size (P < 0.001), increasing age (P < 0.001), black race (P < 0.001), and localized stage (P < 0.001). The nomogram predicted RCC pathology with a concordance index of 0.965. RCC in childhood and adolescence is relatively uncommon; however, it accounts for >50% of renal malignancies after age 12. For every year of increasing age, the odds of having an RCC diagnosis are increased by 50%. The odds of a renal tumor being RCC are increased in black children, those with localized disease, and those with smaller tumors. In these specific populations, RCC should be favored in the differential diagnosis of the renal mass.

Childhood renal cell carcinoma

Renal cell carcinoma (RCC) in children isseldom found. The incidence of thistumor in childhood is estimated to be 0.1-0.3% out of all neoplasms and 2-7% out ofall malignant renal tumors. The Third NationalCancer Survey reported an incidence of only four casesof RCC per year compared to 117 per year of Wilms’tumor.The incidence of RCC has not been reported inIndonesia. This is the first case of childhood RCCfound in our institution. To the best of our knowl-edge, this is the first report of childhood RCC in In-donesia.

Chromophobe Subtype Renal Cell Carcinoma in Childhood: A Case Report and Overview of the Literature

Chromophobe Subtype Renal Cell Carcinoma in Childhood: A Case Report and Overview of the Literature

Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma

Xp11.2 translocation-associated renal cell carcinoma (RCC) is a rare tumor that accounts for at least one-third of childhood RCC. Different reports have emphasized that previous radio/chemotherapy might be involved in its pathogenesis. We describe a child who developed a t(X;1)(p11.2;p34) associated RCC after previous treatment for genitourinary rhabdomyosarcoma in infancy. The presence of the PSF-TFE3 fusion has only been described in a very limited number of cases. Our report expands the spectrum of tumors in which RCC can arise in the pediatric age group after chemotherapy.

Renal Cell Carcinoma in Young and Old Patients—Is There a Difference?

Renal cell carcinoma is rare in patients younger than 40 years and conflicting data regarding presentation and outcome are present in the literature. We reviewed our experience with young patients with renal cell carcinoma and compared them to their older counterparts. We identified 1,720 patients 18 to 79 years old who were treated with partial or radical nephrectomy for renal cell carcinoma between 1989 and 2005. Patients were grouped according to age and outcome analysis was performed. Of the 1,720 patients with renal cell carcinoma 89 (5%), 672 (39%) and 959 (56%) were younger than 40, 40 to 59 and 60 to 79 years old, respectively. There were no significant differences in sex, tumor size, TNM stage or multifocality by age group. However, patients younger than 40 years were significantly more likely to present with symptomatic tumors (p = 0.028). Additionally, there were significant differences in histology by age (p <0.001), that is chromophobe histology decreased while papillary histology increased with age. Despite similar tumor sizes in each age group the percent of patients treated with partial nephrectomy decreased with age. Of patients younger than 40 years 49% were treated with partial nephrectomy compared with 35% and 30% of those 40 to 59 and 60 to 79 years old, respectively (p <0.001). At a median followup of 2.6 years (range 0 to 14.5) we did not observe a significant difference in cancer specific survival according to age (p = 0.17). Younger patients with renal cell carcinoma are more likely to have symptomatic tumors with chromophobe histology, although the prognosis appears similar across age groups. Older patients are more likely to be treated with radical nephrectomy, which requires careful scrutiny for current clinical practice.

Is local lymph node involvement a prognostic factor in paediatric renal cell carcinoma?

20014 Background: RCC in childhood is rare. Children with RCC tend to have a similar overall prognosis when compared with adults, where prognosis worsens with increasing stage, although direct comparisons of adult and paediatric data isn’t easy. The aim of our study is to identify the prognostic significance of local lymph node involvement in children with Renal Cell Carcinoma (RCC). Methods: On the basis of a retrospective study, the recently founded Italian Association for Paediatric Hematology and Oncology-Rare Tumors Paediatric Age (AIEOP-TREP) identified 16 patients (9 females) with RCC and local lymph node involvement at 10 of these centers. The cases were observed among 59 paediatric RCC, corresponding to 27.1% of RCC presenting in Italy from January 1973 to May 2006. Results: Overall, 9 patients were alive and disease free at last follow-up: eight patients had regional lymph node dissection (RLND) from the diaphragm at the aortic bifurcation, and one had the para-aortic lymph nodes removal. Six patients died: one had RLND (died from progression of disease), three had the renal hilum lymph nodes removal, and two the para-aortic lymph nodes dissection. One patient was lost to follow-up after relapse: this patient had para-aortic lymph node removal at diagnosis. Estimated 25-year DFS and OS rates for all patients were 64.2% and 50.5%, respectively. Given the small number of patients, little can be said about the value, if any, of adjuvant immunotherapy in this group of RCC. Conclusions: Children with lymph node positive RCC had a relatively unfavourable long- term prognosis. In our experience the RLND improves the prognosis. Further investigation of the biologic differences is warranted. Because of the very low incidence of paediatric RCC, an international clinical trial will be required to establish optimal therapy for children with RCC. No significant financial relationships to disclose.

Whole body hyperthermia in adjuvant therapy of children with renal cell carcinoma

Whole body hyperthermia (WBH) in combination with chemotherapy has been proven to be effective in some patients with advanced malignancies. However, only limited experience exists regarding the application of WBH with chemotherapy in children. We present the results of applying WBH and chemotherapy in five children with advanced renal cell carcinoma (RCC). WBH (3 hr, 41.8-42.5 degrees C) combined with doxorubicin (50 mg/m2) and interferon-alpha (3 MU/m2) were applied to patients after nephrectomy and lymph node dissection. Each patient received three to eight courses of treatment three times weekly. All children tolerated the combined therapy well without complications. Follow-up of 7-68 months (median: 22 months) showed no tumor progression in patients with locoregional (n = 3) and metastatic (n = 2) disease. WBH with moderate dose doxorubicin and INF-alpha might be a feasible treatment option in childhood RCC.

Renal cell carcinoma in childhood

The renal cell carcinoma (RCC) rarely occurs in childhood. We report here 3 cases of RCC in children. Two girls and 1 boy aged 14, 8 and 13 years old, respectively, presented with gross hematuria as their main complaint. They underwent ultrasonography and computerized tomography, which revealed unilateral renal tumor with lymph nodal involvement in all 3 cases. They were treated with radical nephrectomy associated with regional lymphadenectomy, with histopathology of RCC. Incomplete adjuvant radiotherapy was performed in 2 cases and no complementary treatment in the other one. All are disease-free in a period ranging from 9 to 77 months after diagnosis. Radical nephrectomy associated with regional lymphadenectomy is the best treatment for RCC in childhood. The disease appears to have a less aggressive behavior in children.

Treatment of childhood renal cell carcinoma with lymph node metastasis: Two cases and a review of literature

Standard treatment for renal cell carcinoma (RCC) is radical nephrectomy with lymph node dissection. Stages I and II have encouraging prognoses, but Stage III with regional lymph node metastasis can be unfavorable. Adjuvant therapy for pediatric patients with advanced RCC with lymph node involvement or metastatic lesion has not been defined. Advanced pediatric RCC is reported in two patients (boys, aged 6 and 9 years: Stage IIIs, Robson; Stage III and IV, pTNM classification) treated by nephrectomy and lymph node dissection followed by postoperative interferon-α (IFN), that can be used as an adjuvant therapy with side effects such as fever, bone marrow suppression, or decreased liver function. One is doing well for 7 years, another is suffered from lung metastases at 3 years after surgery. Although immunotherapy is expected to improve survival in pediatric patients with advanced RCC, surgical resection of renal and metastatic tumors remains the standard treatment. J. Surg. Oncol. 2000;75:266–269. © 2000 Wiley-Liss, Inc.

Chromosome Alterations in Renal Cell Carcinoma of Childhood May Correspond to Aberrations in Adults

A 5.5-year-old girl with renal cell carcinoma and chromosomal abnormalities is described. Morphology was diagnostic of an adenopapillary renal cell carcinoma. The karyotype was 57,XX,+X,+2,+3,+4,+7,+12,+13,+16,+17,+20,+21 [8]/58,idem,+17[17]. This karyotype has not previously been described in the rare cases of childhood renal cell carcinoma. It is similar to the karyotypes described in adults of the same morphologic subtype. This poses the question whether different types, from a genotype point of view, of renal cell carcinoma exist in childhood.

Renal Cell Carcinoma in Children: The Detroit Experience

Purpose We analyzed the presentation, treatment and survival of 6 children with renal cell carcinoma. Materials and Methods We retrospectively reviewed the pathological and hospital records of 6 children diagnosed with renal cell carcinoma at Children's Hospital of Michigan (5) and Henry Ford Hospital (1) from 1980 to 1995. Results The most common presenting complaints were flank pain (50 percent) and a palpable abdominal mass (50 percent), while gross hematuria was present in only 1 patient (16 percent). No patient had the classic triad of flank pain, hematuria and a palpable mass. Only 1 patient had localized disease (stage II), while 5 of the 6 presented with stage III or IV disease. While followup is limited, all patients with stage III disease are without evidence of recurrence at a mean 38.5 months and 1 of 2 with stage IV disease is without evidence of disease at 22 months. Conclusions Although renal cell carcinoma in childhood often presents at an advanced stage, the prognosis for those with isolated regional lymph node involvement appears to be encouraging.

Renal cell carcinoma in childhood and adolescence: A retrospective survey for prognostic factors in 22 cases

To identify prognostic factors for renal carcinoma in young patients, a retrospective analysis was performed of 22 patients (≤21 years of age) with histologically verified renal cell carcinoma. Demographic, staging, and treatment variables were collected in a database, and their effect on survival was determined using Kaplan-Meier probability distribution. The median age was 15.5 years (range, 3 to 21 years), and the male:female ratio was 13:9. Only three patients were black. Histopathologic examination showed 15 clear cell tumors, 4 mixed cell type, 2 papillary, and one well-differentiated adenocarcinoma. The median size of the primary tumor was 10 cm (range, 5 to 20). There were seven patients with stage I tumors, one with stage II, and 14 with stage IV. Complete resection of the primary tumor was accomplished in 12 patients. The overall 5-year survival rate was 30% (confidence interval, 20% to 40%). The 5-year survival rate was better for patients who had complete resection of the primary tumor (60% v 10%). Unresectability was associated with involvement of nodes and/or occurrence of metastases, thus an independent effect of complete resection on survival could not be demonstrated. The data showed that age, tumor size, location, and histology were not predictors of outcome; tumor stage and complete surgical resection were the only meaningful prognostic factors. The presentation of renal cell carcinoma as a localized or systemic disease may reflect a twofold biological behavior. In the first group, the disease is curable with resection, in the second, it is unaffected by surgery or adjuvant therapy. In light of the very low incidence of this renal malignancy in childhood, prospective multicenter studies will be required to improve the poor therapeutic results.

Pediatric renal cell carcinoma: A complete response to recombinant interleukin‐2 in a child with metastatic disease at diagnosis

Renal cell carcinoma is a rare pediatric malignancy that appears to have a similar clinical outcome in children and adults. We review the experience of Childrens Hospital Los Angeles and compare it with the published pediatric series, reporting on seven cases from 1954 to the present. As in earlier pediatric series, we find that Stage I/II patients do well (five of five complete responses with prolonged disease-free survival) with surgical resection. As in other pediatric series, our only Stage III patient died of disease. We also report on a recent case of renal cell carcinoma, metastatic to lymph nodes and lung parenchyma at diagnosis (Stage IV). This patient was treated with high dose continuous infusion recombinant interleukin-2 and had a partial response. The patient attained a complete response following a second laparotomy and two subsequent cycles of recombinant interleukin-2. He is presently well, without evidence of disease, 3 1/2 years after diagnosis. The significance of this form of therapy to advanced renal cell carcinoma in childhood is discussed.

Cytogenetics of a renal cell carcinoma in a 17-month-old child: Evidence for Xp11.2 as a recurring breakpoint

A renal cell carcinoma from a 17-month-old boy with a history of maternal hydrocarbon exposure was found to have a 46,Y,t(X;17)(p11.2;q25) karyotype. Although this translocation has not previously been reported, other translocations involving Xp11.2 have been described, suggesting that this may represent a non-random breakpoint involved in the pathogenesis of childhood renal cell carcinoma. Both chromosomes 3 in the tumor were normal by both karyotype and RFLP analysis.

Renal cell carcinoma in childhood.

Renal cell carcinoma in childhood.

Renal cell carcinoma in childhood and adolescence: A clinical and pathological study of 17 cases: E.E. Lack, J.R. Cassady, and S.E. Sallan. J Urol 133:822–828, (May), 1985

Renal cell carcinoma in childhood and adolescence: A clinical and pathological study of 17 cases: E.E. Lack, J.R. Cassady, and S.E. Sallan. J Urol 133:822–828, (May), 1985

Papillary Wilms' tumour with carcinoma-like foci and renal cell carcinoma in childhood.

Five cases of Wilms' tumour with prominent papillary formation and focal carcinoma-like epithelium are described. The morphology of these tumours is compared with a group of six renal cell carcinomas in childhood. A link between this type of nephroblastoma and renal carcinoma is suggested but pure renal carcinomas are considered to be a separate category. The biological behaviour of the papillary Wilms' tumours was found to be more aggressive than is generally believed. The course of the disease may be influenced by carcinoma-like structures although this fact is not definitely established. Staging seems to be more helpful in such patients as is the case with renal cell carcinomas. Further studies on this type of Wilms' tumour are needed to establish more consistent data.

Renal Cell Carcinoma in Childhood and Adolescence: A Clinical and Pathological Study of 17 Cases

From 1955 through 1984,17 patients aged 17 years or younger were treated or seen in consultation for renal cell carcinoma at the Children’s Hospital and Dana Farber Cancer Institute. There were 11 girls and 6 boys, with an average age at diagnosis of 11 years (range 4 to 17 years). Gross hematuria and abdominal or flank pain were the most common presenting complaints, and in 5 cases there was a history of antecedent trauma. The tumors ranged in size from 2 to 15cm. (average diameter 7.5cm.). There were 10 tumors in the left kidney and 7 in the right kidney. Childhood renal cell carcinoma displayed similar gross and microscopic features compared with counterparts in adults. The smallest renal cell carcinoma to metastasize measured 3cm. in diameter and the pathological features suggested an origin from distal collecting tubules (ducts of Bellini). There were 6 tumor-related deaths (35 per cent over-all mortality) occurring 2 months to 2 years after diagnosis. Eleven children were well, with an average duration of followup of 12 years (range 4 to 27 years). The most important prognostic factor was clinical stage at the time of diagnosis. The presence of renal vascular invasion per se did not appear to be an adverse finding. The most optimal treatment for children with stage I renal cell carcinoma is radical nephrectomy with regional lymphadenectomy. While adjuvant radiation and/or chemotherapy may be used in patients with more advanced stage disease, their efficacy in achieving long-term survival free of relapse or cure is not well defined.

Renal cell carcinoma in the first two decades of life.

Renal cell carcinoma occurs rarely in the first two decades of life. This paper reviews the clinical and radiographic features of 17 such patients (10F: 7M, mean age = 12 years) seen in a 24 year period. The almost equal sex incidence contrasts with the male preponderance in adults. All patients presented with symptoms and signs referable to the primary lesion. In comparison to Wilms' tumor, renal cell carcinoma in childhood and adolescence usually presents with a smaller abdominal mass which is frequently not palpable or visible on plain abdominal radiographs. Ultrasound and CT showed non-specific solid intrarenal masses. This rare tumor of childhood should be included in the differential diagnosis of intrarenal mass lesions, particularly in older children with hematuria and renal calcification on plain radiographs. One child in this series had tuberous sclerosis. The prognosis depends on the stage of disease at presentation.