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Congenital mesoblastic nephroma is a rare pediatric renal tumor and has been reported in patients presenting with palpable abdominal mass, arterial hypertension, hematuria, polyuria, or hypercalcemia. Here we present the case of a 1-month-old neonate with suspected parathyroid hormone (PTH)-related peptide (PTH-rp)-mediated severe hypercalcemia revealing congenital mesoblastic nephroma. Preoperatively, hypercalcemia was corrected with hydration, furosemide, pamidronate, and low-calcium infant formula. Unilateral nephrectomy led to the resolution of hypercalcemia, transient hyperparathyroidism, and transient vitamin D and mineral supplementation. We conclude that congenital mesoblastic nephroma can secrete PTH-rp that can cause severe hypercalcemia., Competing Interests: Declaration of Competing Interest The authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest, or non-financial interest, in the subject matter or materials discussed in this manuscript., (Copyright © 2021 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)

Compare to congenital mesoblastic nephroma in fetus, congenital wilms tumor is extremely rare. Herein we report a case of congenital bilateral solid masses on antenatal ultrasound. The mass was evaluated by ultrasonography and contrast computed tomography scan in postnatal period, and the patient was undergoing tumor enucleation separately in short period after neoadjuvant chemotherapy. The diagnosis was confirmed by histology analysis for each side, and the treatment was taken according to the International Society of Pediatric Oncology., (Copyright © 2021. Published by Elsevier Inc.)

Background: Congenital mesoblastic nephroma is a rare disease. Treatment is surgical in the first instance. Chemotherapy has traditionally been thought not to have a role. Recent literature suggests a 50% mortality rate for recurrent/metastatic disease., Materials and Methods: This study is a retrospective case review of prospectively collected data. Demographics, histopathology, treatment, outcomes and follow up were reviewed., Results: Nine patients, 6 male and 3 female, were included. The median age at presentation was one month (range 0-7 months); follow-up was for a median of 21.5 months (range 16-79 months). Two patients had mixed and classical subtypes and the other five had the cellular subtype. Surgery was completed by an open procedure in eight patients and laparoscopically in one. There were three recurrences; two were local and one was pulmonary. Recurrences were treated with a combination of chemotherapy, radiotherapy and surgery. One patient with recurrent disease died from acute-on-chronic respiratory failure secondary to lung irradiation but was disease free. The other eight are disease free, alive and well with no sequelae at latest follow-up., Conclusions: Surgery remains the mainstay of management with chemo- and radiotherapy reserved for unresectable tumours or adjuvant management of recurrent disease. Specimen-positive margins are not an indication for instituting chemotherapy. The tyrosine kinase pathway seems to be a potential target for future chemotherapeutic agents although it is too early to assess how that will impact on the management of congenital mesoblastic nephroma.

Solid fetal renal masses are a rare finding on antenatal ultrasound, with hydronephrosis and cystic disease of the kidney usually being the most common causes for fetal renal enlargement. Herein we report a case of a solid fetal renal mass which was detected on third trimester antenatal ultrasound scanning. This renal mass was evaluated by MRI in the postnatal period and diagnosis confirmed by histological analysis, after surgical excision. Also discussed are the differential diagnoses and imaging features of other solid fetal renal masses, including congenital mesoblastic nephroma, nephroblastomatosis, renal sarcoma and angiomyolipoma., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Introduction: Congenital mesoblastic nephroma (CMN) is a common solid renal tumor in the neonate. Congenital mesoblastic nephroma can be divided into classic, cellular, and mixed types. The prognosis of CMN is very optimistic. But CMN can easily be misdiagnosed as the other malignant renal tumors by radiology. However, no studies have described the computed tomography (CT) imaging appearance of CNM in detail. The objective of this study is retrospective analyses of the multislice CT characteristics of CMN and their corresponding ultrasound findings and pathology., Methods: This retrospective study reviewed the enhanced CT images of the CMNs and other renal tumors in children younger than 1 year in the past 10 years from the First Affiliated Hospital of Sun Yat-sen University. Two radiologists had noted the CT imaging characteristics of these images. t-test and Fisher's exact test were used in the comparison of imaging characteristics between the CMNs and other renal tumors., Results and Discussion: Compared with other malignant renal tumors, the CMNs tend to appear as smaller round masses without clear coverage or clear boundary with the kidney in CT images (P < 0.01). The intratumor pelvis and the double-layer sign are the specific characteristics of CMNs (P < 0.01). The gender, quality of tumor (solid or solid-cystic), character of enhancement (homogeneous or heterogeneous enhancement), peri-renal hemorrhage, or peripheral lymph node enlargement showed no statistical significance (P > 0.05) between CMNs and other renal tumors. The appearances of CMN with classic components in the CT images are relevant to the pathological findings. The intratumor pelvis is caused by the classic components of CMN growing to encapsulate the pelvis. The double-layer sign in CT image correlates with the specific hypoechoic ring in ultrasound, which is caused by the slow blood flow and delay contrast agent filling in the blood sinus located in the peripheral part of the tumor. The differential diagnosis of CMN should include the other solitary renal tumors such as Wilms' tumor, clear-cell sarcoma of the kidney, and rhabdoid tumor of the kidney., Conclusion: The unclear coverage and unclear boundary with the kidney, the intratumor pelvis, and double-layer sign after contrast were specific CT imaging characteristics of CMN., (Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4-NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital mesoblastic nephroma, demonstrating that the EML4-NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital mesoblastic nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

Congenital mesoblastic nephroma (CMN) is the most frequent renal neoplasm of newborns and young infants. Four cases presenting with hemorrhagic manifestations have been reported in the English literature (Hu et al, 2006; Bolande et al, 1967). We report the unusual clinical and radiographic findings of a 2-day-old neonate with hematuria secondary to a CMN. The first ultrasound was equivocal. Repeat ultrasound followed by magnetic resonance imaging confirmed the diagnosis. He underwent a right nephroureterectomy with histopathology revealing a cellular variant of CMN without classical translocation (t12:15). Neonates presenting with hematuria require close follow-up and serial imaging to rule out occult renal tumors. Classical translocation may not be demonstrable in all the cases., (Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.)

Mesoblastic nephroma (MN) is the most common renal tumour in the first 3 months of life and accounts for 3-5% of all paediatric renal neoplasms. To further understand the morphological variants of MN, we identified 19 cases of MN (five classic, eight cellular and six mixed) and examined each case for markers known to be important in urogenital embryological development (PAX8, WT1 and RCC), stem cell associated markers (Oct 4, CD34 and c-kit), muscle/myofibroblastic markers (muscle specific actin, calponin and h-caldesmon), aberrant transcription factors, cell cycle regulation and other oncogenic proteins (p16, cyclin D1 and beta-catenin). Fluorescence in situ hybridisation (FISH) testing for ETV6-NTRK3 gene fusion/rearrangement revealed further differentiation between the subtypes with ETV6-NTRK3 gene fusion detected in 0/5 of the classic MN, 8/8 of the cellular MN and 5/6 of the mixed MN cohorts, respectively. Our results conclude that cyclin D1 and beta-catenin may be useful markers for differentiating between cellular MN and classic MN when the histology is not conclusive. The absence of expression of stem cell markers and markers involved in urogenital development suggests that MN is not a nephroma and most likely represents a soft tissue tumour, with congenital infantile fibrosarcoma representing cellular MN with a predilection to arise in the kidney. In addition, the immunophenotype and genetic fingerprint of mixed MN most likely represents a heterogenous group of tumours that are mostly cellular type, with areas that are phenotypically less cellular., (Copyright © 2015 The Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.)

We report a renal tumor detected by prenatal ultrasound and resected at 2 months of age. This 9-cm, solid mass was composed of tubular and papillary structures lined by small, uniform epithelial cells. There was local invasion into renal parenchyma and a tumor deposit in a hilar lymph node. The tumor was immunopositive for WT1, pankeratin, and CD10; focally positive for CK7; and negative for EMA and TFE3. Based on morphology and immunophenotype, the favored diagnosis was metanephric adenoma over Wilms tumor, renal cell carcinoma, and nephrogenic rest. However, metanephric adenoma only occasionally occurs in children and has never been reported prenatally. Alternatively, this tumor might be a congenital Wilms tumor that differentiated completely. Although the nature of the tumor remains unconfirmed, resection appears to have been curative; the patient remains disease-free 18 months following surgery alone.

Among infant malignancies, congenital tumors, especially those of the central nervous system (CNS), constitute a rather unique subgroup. Poor survival rates (28% in CNS tumors) may be attributed to the aggressive biology as well as specific therapeutic limitations innate to the young age of affected patients. Our patient developed synchronous congenital tumors: an atypical teratoid/rhabdoid tumor (AT/RT) localized in the right lateral ventricle of the brain and a malignant rhabdoid tumor (MRT) in the soft tissue of the right orbit. A de novo germline chromosomal deletion in 22q encompassing the SMARCB1 gene was detected, prompting the diagnosis of a de novo rhabdoid tumor predisposition syndrome 1 (RTPS1). The patient was reported to the European Rhabdoid Registry (EU-RHAB) and treated according to the Rhabdoid 2007 recommendation. Despite the very young age of the patient, the initially desperate situation of RTPS1, and the synchronous localization of congenital rhabdoid tumors, intensive chemotherapy was well tolerated; the child is still in complete remission 5 years following diagnosis. In conclusion, RTPS1 with congenital synchronous MRTs is not necessarily associated with a detrimental outcome. Intensive multidrug chemotherapy, including high dose chemotherapy, may be feasible and justified., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system and malignant rhabdoid tumor of the kidney (MRTK) may present with different responses to chemotherapy and outcomes. We describe the case of an infant with multifocal rhabdoid tumor with different behavior and response to treatment, depending on the anatomic site., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Congenital mesoblastic nephroma (CMN) is a renal stromal neoplasm of infancy. It comprises 3-10% of all pediatric renal tumors. We report a case of CMN in a 30 week old premature female neonate seen at autopsy who was born to a 26-year-old woman by emergency cesarean section on account of polyhydramnios.

Congenital mesoblastic nephroma (CMN) is the most common renal tumor in the first year of life. Here, we present unique findings of cellular variant CMN seen on prenatal and postnatal MRI with diffusion-weighted imaging (DWI).The mass was well-visualized on prenatal MR DWI with diffusion restriction in the solid portions. After excision of the mass, follow-up whole body MRI with DWI helped identify local tumor recurrence with suspicious liver metastasis. This hepatic lesion also showed diffusion restriction.

An 18-month-old male basset hound was presented with vomiting, diarrhoea and depression. Abdominal ultrasonography revealed a mass in the left kidney. An ultrasound-guided core-biopsy indicated aggregates of spindle cells, but did not allow a definitive diagnosis. Nephrectomy was performed after a period of six months, when ultrasound examination revealed a slight increase in mass dimensions. Histologically the mass was composed of neoplastic spindle cells forming interlacing fascicles, bundles and whorls, within a loose myxoid to dense collagenous stroma. Immunohistochemically neoplastic cells were positive for vimentin and smooth muscle actin. Based on these findings the tumour was diagnosed as a congenital mesoblastic nephroma, classical variant. After a two-and-a-half-year follow-up the dog was clinically healthy, indicating a benign behaviour. To the authors' knowledge, this report describes the first case of canine congenital mesoblastic nephroma successfully treated surgically, with a reasonable postsurgical follow-up., (© 2012 British Small Animal Veterinary Association.)

Renal and hepatic tumors in neonates are extremely rare. Nevertheless it is important for clinicians to be familiar with them. Both renal and hepatic neonatal tumors are heterogeneous collections of several tumor types. Some renal and hepatic tumors are benign and may require no interventions whereas others can be associated with significant morbidity and even mortality and may require multimodality treatment. Early diagnosis and initiation of the proper treatment plan is crucial for achieving the best outcomes for these rare tumors in this vulnerable population., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Fibrosarcomas (FS) are rare malignant tumors in pediatrics, classified in the heterogeneous non-rhabdomyosarcomas group of malignant mesenchymal tumors. Infantile FS are found typically in children less than 2 years of age, and include congenital FS usually occurring in infants in the first 3 months of life. Histological diagnosis can be difficult; and confirmed with detection by molecular biology of the ETV6-NTRK3 fusion protein. FS is most often a localized disease at diagnosis, with involvement of an extremity. The management of these patients must be multidisciplinary, to define the different phases of treatment and avoid mutilating surgery. Cellular or atypical mesoblastic nephroma (MN) is a subtype of malignant pediatric renal tumors, most often present in children of less than 3 months. Histopathological characteristics of the cellular MN are very close to the congenital FS due to a fusion transcript common to both diseases. Treatment schedule is defined by initial local stage of the disease. FS called "adult-type" found exceptionally in childhood occur most often after 10 years old. Adult FS differ from infantile FS in their clinical presentation because of a strong local aggressiveness and problematic appearance of metastasis in 50% of cases, sometimes late. These three diseases present therefore histological similarities. Both have a common name but different clinical presentation and outcome: infantile FS and adult FS. Two have different names and initial location but similar histology, chromosomal rearrangement, sensitivity to chemotherapy and outcome: the congenital FS and cellular mesoblatic nephroma. Authors present a review of the literature of these entities.

The occurrence of multiple cutaneous leiomyomas can be indicative of hereditary cutaneous leiomyomatosis. This autosomal dominant disorder is due to germline mutations in the fumarate hydratase (FH) gene. Associations with uterine myomas and renal cell carcinomas have been described and are referred to as Multiple Cutaneous and Uterine Leiomyomas (MCUL) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), respectively. A 34-year-old man presented with multiple red-brown papules and nodules. After histopathologic confirmation of piloleiomyomas, we made the diagnosis of hereditary cutaneous leiomyomatosis. Taking into consideration the aforementioned complications, close interdisciplinary management of these patients and regular screening examinations within affected families are mandatory.

A 15-month-old male beagle dog used in a toxicity study had a primary renal mesenchymal tumor. Macroscopically, the tumor was a gray-white mass which was found in the right kidney, and extended from the capsule to a position slightly compressing the medulla. Microscopically, most of the tumor cells showed a myxoid pattern, in which the matrix was positive for alcian blue staining. In the other parts of the tumor, a fascicular and wavy pattern was observed, and the matrix was full of collagen fibrils. Immunohistochemically, tumor cells were positive for vimentin and fibronectin, and negative for cytokeratin, desmin, α-smooth muscle actin, Von Willebrand factor, cyclooxigenase-2 and myelin basic protein. As a result, we diagnosed this case to be a renal mesenchymal tumor. Based on the microscopic findings, interstitial characteristics and immunohistochemical features, the present case was classified as a congenital mesoblastic tumor.

Introduction: Congenital Mesoblastic Nephroma (CMN) is a rare pediatric renal tumor. It comprises two histological subtypes, namely classic and cellular, with the second accounting for two thirds of all cases and being more often associated with poor prognosis. It remains a diagnostic challenge for pathologists due to its similarity with other more frequent pediatric kidney neoplasms., Case Report: We describe the case of a 2-year- old girl who presented with a left renal mass. After nephrectomy, the specimen analysis showed, on gross examination, an extensive, granular and whitish tumor lesion occupying almost the entire kidney, invading the renal sinus, capsule and perirenal fat, with areas of hemorrhage and necrosis. Histologically, it was characterized by ovoid spindle cells, mitoses and no cell atypia, which led to a diagnosis of cellular mesoblastic nephroma. Adjuvant chemotherapy was carried out, but tumor recurrence occurred in the first year, presenting as an unresectable tumor that did not respond to adjuvant chemotherapy and the patient died at 4 years of age., Discussion: The cellular variant tends to be more aggressive, with a survival rate of 85% versus 100% for the classic variant. Recurrence generally occurs in the first year, particularly with the cellular variant.

Objective: To review nephrectomy specimens for pediatric renal tumors seen over a period of 9 years (1995-2003)., Study Design: Specimens categorized as fetal rhabdomyomatous Wilms tumors (WTs) or teratoid WTs were selected. Corresponding fine needle aspiration cytology slides were subjected to cytomorphologic analysis., Results: Of 93 specimens of WT, 3 cases of fetal rhabdomyomatous WT and 2 cases of teratoid WT were identified. The aspirates were stromal predominant, and all of them showed rhabdomyoblasts embedded within. These stained variably green or orange on Papanicolaou stain and blue-gray on May-Grünwald-Giemsa stain. In all 5 aspirates, foci of blastema with or without tubules were identified, permitting a diagnosis of WT. A squamous morule was seen in an aspirate from teratoid WT., Conclusion: The outcome of fetal rhabdomyomatous and teratoid WTs is good, but the tumors do not shrink with chemotherapy. Identification of rhabdomyoblastic elements on aspirates can help in assessment of subsequent response to treatment.

Purpose: Few studies have focused on the behavior of rhabdoid tumor (RT) in the fetus and neonate. The purpose of this review is to show that perinatal RTs are associated with unusual findings and a poor prognosis., Methods: The author conducted a 40-year systematic review of the literature. Clinical presentation, pathology, management, and outcome of 72 fetuses and neonates with RTs are discussed., Results: Seventy-two fetuses and neonates presented with RTs detected prenatally (n = 12) and during the neonatal period (n = 60). The review consisted of 3 main groups: extrarenal noncentral nervous system (CNS) RT, renal RT, and CNS RT. There were some group differences in survival: extrarenal non-CNS RT (3/33 or 9.1%), renal RT (2/27 or 7.4%), and CNS RT (2/12 or 16.7%). Metastatic RT was present at diagnosis in more than half the patients (41/72 or 57%) who had a survival of 2.3%. The overall survival was 9.7%. For statistical results, there was no significant difference in survival among the 3 groups by type of tumor (P = .692). chi(2) analysis for survival with and without metastases was not valid due to small sample size., Conclusions: The review shows that extrarenal RT was more common than either renal RT or CNS RT groups that is different than that observed in older individuals. Concomitant brain tumors were found in almost a third of fetuses and neonates. The CNS involvement occurred more often in patients with renal RT than in those with extrarenal RT. Metastatic disease at diagnosis was noted in more than half of the patients. Higher stage and presence of a CNS tumor were significant determinants in survival.

Bladder cancer is a very common and aggressive tumor entity. Unfortunately, common chemotherapy is not able to cure advanced bladder cancer. Therefore, several attempts have been made to improve the response to chemotherapy. Because changes in apoptotic pathways are frequent events in the development of chemoresistance of malignancies, pro-apoptotic treatment seems promising for the improvement of bladder cancer prognosis. Preclinical data show potential ways for a successful combination of apoptosis agonists with conventional chemotherapy. None of these principles has so far successfully been translated into clinical trials for bladder cancer. This review describes actual studies and future perspectives for apoptotic agonists in bladder cancer.

Background: Renal tumors are rare in infants less than 6 months of age, being congenital mesoblastic nephroma the most frecuent in this age group. We reported 4 cases treated in our hospital in the last years., Methods: We analyze age, sex, the clinical presentation as well as diagnosis and treatment., Results: Range of age at diagnosis was 0-6 months. In our study the predominant sex was female. Clinical presentation was abdominal mass in all of cases with hypertension (HTA) in two of them. Scan ultrasound has been the method of dignostic, that was completed with Magnetic Resonance Imaging (MRI). The tretament was open surgery in three cases and laparoscopic on the last. All patients are alive with no evidence of disease., Conclusions: Low frecuency of this tumor limit the experience on diagnostic and treatment. Standard treatment is nephroureterectomy radical with free margins. Adjuvant therapy should be considered in recurrent disease although exists few studies. Laparoscopic surgery should be an alternative to clasical treatment since permits excision with good security margins.

The aim of the study was to present our experience in treating children with genetic forms of nephrotic syndrome and diagnosing these diseases. We retrospectively reviewed the clinical data, mutational analyses, histopathological features, treatment modalities, and outcome of 26 consecutive children (20 families) suffering from congenital and/or steroid-resistant nephrotic syndrome who were assessed by genetic analysis. Ten out of 26 children (38%) had congenital nephrotic syndrome, 4/26 (15%) had infantile nephrotic syndrome, 10/26 (38%) had late-onset nephrotic syndrome, and 2/26 (9%) had asymptomatic proteinuria. We detected a mutation in 21/26 (81%) patients and in 15/20 (75%) families. NPHS1 mutation analyses were positive in 4/20 (20%), NPHS2 mutations in 4/20 (20%), WT1 mutations in 4/20 (20%), and PLCE1 mutations in 3/20 (15%) families. NPHS1 and PLCE1 mutations were solely found in patients with the earliest onset. The majority of patients, especially those with early onset of nephrotic syndrome, had serious adverse events related to the nephrotic status, and 19/26 (73%) reached end-stage renal failure at a median age of 27 months. Genetic forms of nephrotic syndrome comprise a heterogeneous group of genetic mutations. The progression toward end-stage renal failure is the rule but is highly variable between patients.

We present an unusual renal developmental disorder in a female infant and male sibling born in a subsequent pregnancy. Both children had prenatally diagnosed bilateral nephromegaly and survived for 6 and 10 days after birth, respectively. Both infants demonstrated the presence of bilaterally large cerebriform kidneys with numerous small lobulations containing immature glomeruli admixed with primarily intralobar nephrogenic rests without Wilms tumor. The pathology was most consistent with universal nephroblastomatosis with nephromegaly, a rare entity described in only 4 cases and in only 1 of these as a possible inherited disorder.

Background: To review the clinical characteristics and survival of infants diagnosed with a primary renal tumor in the first 7 months of life., Procedure: A retrospective data review of patients registered in five large international protocols (SFOP/GPOH/SIOP9/93-01, UKW3 and NWTSG 4 and 5) spanning 1985-2002., Results: 750 (7.2%) of 10,430 registered patients were diagnosed with a renal tumor before age 213 days. Tumor types were Wilms tumor (WT) 58%; congenital mesoblastic nephroma (CMN) 18%; malignant rhabdoid tumor (MRTK) 8%; clear cell sarcoma (CCSK) 2%; non-Wilms tumor (unspecified) 6%; histology unknown, 9%. CMN predominated among tumors diagnosed in the first month of life (54%) but its relative contribution diminished to <10% of all cases diagnosed after the age of 3 months (P < 0.001). Among 639 cases with specified histology and stage, 9/11 stage IV tumors were MRTK, 37/39 bilateral tumors were WT. In 626 children where surgical approach was specified, 522 had immediate nephrectomy. For all cases, 5 years event-free survival (EFS) was 80% and overall survival (OS) 86%. Five years EFS and OS respectively by tumor type were WT (86%, 93%), CMN (94%, 96%), CCSK (49%, 51%), MRTK (16%, 16%)., Conclusion: Renal tumors diagnosed in the first 7 months of life generally have an excellent prognosis though histology is an important prognostic factor. In the first 2 months of life the prevalence of CMN is high. The relative occurrence of WT increases rapidly with age thereafter. Bilateral tumors are usually WT. Tumors with metastases at diagnosis are usually MRTK., ((c) 2007 Wiley-Liss, Inc.)

In a metaphase comparative genomic hybridization and fluorescence in situ hybridization study of 13 congenital mesoblastic nephroma (CMN) tumors, trisomy 11 was found in seven cellular or mixed type tumors, disomy 11 with other chromosome changes in two cellular type tumors, and no chromosome changes in four classical type tumors. Reverse-transcription (RT)-PCR analysis detected the ETV6-NTRK3 fusion transcript in all eight cellular or mixed type tumors examined, but not in four classical type tumors. All seven tumors with trisomy 11 showed duplication of the paternal IGF2 allele, and six cellular or classical type tumors with disomy 11 showed one paternal and one maternal allele of IGF2, analyzing the methylation status of the sixth CTCF site of the H19-differentially methylated region. Allelic expression study using the ApaI/AvaII polymorphism site at exon 9 of IGF2 showed retention of imprinting in all seven tumors examined. Quantitative real-time RT-PCR analysis showed higher expression levels of IGF2 mRNA in three of three cellular type tumors with trisomy 11, in one cellular type tumor with disomy 11, and in three of four classical tumors than in fetal kidneys or normal kidney tissues. Thus, duplicated paternal IGF2 resulted in elevated IGF2 mRNA levels, and may provide CMN or its precursor cells with a proliferative advantage. The mechanism explaining that some cellular or classical type tumors with disomy 11 also showed elevated IGF2 mRNA levels remains unresolved. IGF2 clearly plays an important role in the tumorigenic process of CMN, although it is difficult to assess its exact role., (Copyright (c) 2007 Wiley-Liss, Inc.)

Neuroblastoma is a tumor of the sympathetic ganglia and adrenal medulla that rarely metastasizes to the placenta. A 21-year-old gravida 3, para 1 at 28 weeks' gestation had an incidental finding of a 3.8-cm fetal renal mass on prenatal ultrasound. Within 1 week, the fetus developed hydrops and was delivered for nonreassuring fetal assessment. The mother developed mirror syndrome as manifested by hypertension, oliguria, and edema. The hydropic infant developed pulmonary hypertension, sepsis, and renal failure. On day of life 4, life support was discontinued. Pathological examination of the placenta revealed disseminated small round blue cells consistent with neuroblastoma. Metastasis of congenital neuroblastoma to the placenta is exceedingly rare, and cases discovered prenatally have resulted in significant maternal morbidity and 100% neonatal mortality.

Congenital mesoblastic nephroma (CMN) is a rare tumour of infancy having an overall good prognosis. The less common, atypical CMNs have cellular elements in them and tend to have an unpredictable course. Occurrence in the perinatal period may further change the outcome. By reporting three patients presenting in the perinatal period with atypical CMN, an attempt is made in this paper to characterize the clinical behaviour of these variant tumours. Though one of our patients had an uneventful course, the other two had several complications including polyhydramnios, prematurity, hypertension, haemodynamic instability and tumour spillage. The course was complicated by recurrence in the latter two and refractoriness to chemotherapy and death in one. That the atypical subset of CMNs occurring in the perinatal period can have a stormy course is well illustrated by this report. Possible prognostic factors are evaluated and the sparse reports of similar cases in the literature are reviewed and compared.

Congenital mesoblastic nephroma (CMN) is a rare benign tumor that occurs during the neonatal period and early infancy. The vast majority of these tumors present as asymptomatic palpable abdominal masses. We describe an unusual presentation of a CMN in a 10-month-old male infant who presented with massive hematuria and the development of hemorrhagic shock. Abdominal ultrasound showed a heterogeneous solid complex mass measuring 4.8 x 3.5 cm arising from the upper pole of the left kidney. The patient was resuscitated using intravenous fluids and blood transfusions because persistent massive bloody urine leading to progressive shock occurred the night of the admission day. Preoperative diagnosis was possible Wilms tumor of the left kidney. The histopathological findings were consistent with the character of a cellular variant of CMN. The patient was free of recurrence and metastasis at the 2-year follow-up examination. Our case report suggests that CMN is a rare benign renal tumor during infancy and may present with unusual massive hematuria and shock.

Aim: Congenital mesoblastic nephroma (CMN) is the commonest renal tumour of infancy, with classical, cellular and mixed histological subtypes described. A specific ETV6-NTRK3 fusion-gene product is reported in association with the cellular variant. The aim was to investigate the relationship between the presence of this product and morphological phenotype using paraffin-embedded archival material., Methods and Results: Cases of CMN from a single centre during a 15-year period (1989-1994) were identified, anonymized and blindly classified using morphological criteria. RNA was extracted from frozen and paraffin sections for both conventional reverse transcriptase-polymerase chain reaction (RT-PCR) and quantitative real-time RT-PCR. Fifteen samples were analysed; two were non-informative and three expressed ETV6-NTRK3 using both techniques, two showing similar expression, whilst one showed expression two orders of magnitude lower, from a cellular tumour. All fusion positive cases were previously classified as cellular subtype. Six patients had mixed-subtype tumours in which the cellular components, morphologically indistinguishable from cellular tumours, were fusion negative, as were all classical cases., Conclusions: Real-time PCR Taqman assays, using both fixed and frozen tissue, provide highly reproducible detection and quantification of fusion transcript expression. Differences in expression levels may explain previous conflicting data on fusion gene detection in these tumours.

Malignant congenital tumors of fetal origin are rare lesions, the most common type being congenital neuroblastoma. Although prenatal diagnosis is possible in large tumors, occasionally the tumor will be diagnosed first by its metastatic involvement of the placenta. Placental metastases can reflect either maternal or fetal primary sites, and each has relatively specific patterns of placental involvement. We describe the clinical and pathologic features of a widely metastatic congenital renal rhabdoid tumor with its placental and autopsy findings, and include the immunohistochemical, cytogenetic, and ultrastructural features. The pathologic features of the placenta in congenital renal rhabdoid tumor with placental metastasis have not been previously described. The examination of the placenta in this case led to the initial diagnosis and obviated the need for additional diagnostic procedures.

Type of Study: Case report., Setting: Department of Gynecology and Obstetrics, Department of Radiology, Department of Pathology, Department of Medical Genetics, Charles University Hospital, Hradec Králové., Methods: The autors report a case of renal tumor in a fetus at 33 weeks of gestation detected by means of ultrasonography and magnetic resonance imaging. The pregnancy course was complicated by polyhydramnios. The female infant was born vaginally at 37 weeks of gestation. Postnatal nephrectomy confirmed prenatal diagnostic presumption - congenital mezoblastic nephroma. At follow-up at 12 months of age, the infant had no evidence of the disease., Conclusion: Detection of renal tumor in a fetus is rare. Congenital mezoblastic nephroma with the favourable prognosis is most probable diagnosis. Prenatal detection enables the prevention of complications (prematurity prevention, detection of the developing cardial decompensation and fetal hydrops) with the planning of labour and postnatal management.

Purpose: To differentiate classic and cellular type of congenital mesoblastic nephroma (CMN) in MRI and to evaluate MRI for staging according to the Societe Internationale de Oncologie Pediatrique (SIOP)., Material and Methods: MRI examinations of 20 children with CMN (age 1st to 16th months, classic type n = 11, cellular type n = 7, mixed type n = 2) were analyzed retrospectively. Cysts, necrosis, hemmorhage in the tumor, signal intensity, tumor structure, thrombosis and dilatation of renal vein, crossing of the body midline, peripheral contrast-enhancement, tumor volume and existence of a tumor pseudocapsule in contrast to the residual kidney were described. The radiologic stage was compared with the histopathologic stage (infiltration of perirenal fat and infiltration of the renal sinus)., Results: Tumors of the classic type (mean volume 67.9 ml) had necrosis in 1 case, crossed the midline in 1 case, had no cysts or bleeding, and had a peripheral contrast-enhancement in 1 case, and were heterogeneous in 9 cases. The cellular type (mean volume 302.8 ml) had tumor necrosis in 6 cases, bleeding in 3 cases, cysts in 3 cases, crossed the midline in 4 cases, and peripheral contrast enhancement in 2 cases, and was predominantly heterogeneous. Mixed tumor types (7 ml and 202 ml) had tumor necrosis in 1 case and crossed the midline in 1 case, a peripheral contrast enhancement in 2 cases and a homogenous structure in 1 case. The signal intensity in T1 w and T2 w images was not specific. The renal vein was inconspicuous in all children. The evaluation of the infiltration in perirenal fatty tissue was true positive in 1 case, true negative in 10 cases, false negative in 4 cases and false positive in 5 cases. The infiltration of the renal hilus was true positive in 10 children, false positive in 8 cases and true negative in 2 cases., Conclusion: A typical finding of CMN in MRI is a heterogeneous tumor without demarcation from the rest of the kidney parenchyma by a pseudocapsule. The cellular type of CMN tends to have a higher tumor volume and shows more necrosis, bleeding and cysts than the classic type in MRI. A peripheral contrast-enhancement in MRI is not characteristic for any type of CMN. Local tumor staging is not possible with MRI.

At 31 weeks gestation, a hydropic male fetus died in utero with metastatic disease from a renal clear cell sarcoma. The tumor had metastasized to para-aortic and mediastinal lymph nodes, lung, pleura, and liver, leading to superior vena cava obstruction and pulmonary hypoplasia. The pathologic findings and cytogenetic analysis of the fetus and tumor are presented. In addition, review of the literature reveals six other cases aged <6 months of age, including two extrarenal cases.

Unlabelled: Antenatal ultrasounds allow the detection of renal tumors, especially renal mesoblastic nephromas, but only the pathological analysis of the surgical specimen can confirm this diagnosis postnatally., Observation: We report the prenatal discovery of a mesoblastic nephroma because of premature labour. Postnatal early surgery was decided because of possible complications in this premature infant. Histology revealed mesoblastic nephroma., Comments: We point out the diagnostic elements of congenital mesoblastic nephroma, especially in what is related to arterial hypertension and hypercalcemia, histology and cytogenetics.

A 5-week premature infant boy with tumorous malformations underwent biopsy of two truncal masses and exenteration of the left orbit. Specimens were examined histologically. Histologic reports, slides, and clinical photographs were reviewed. A diagnosis of malignant rhabdoid tumor was made. Malignant rhabdoid tumors can present as local or disseminated neoplastic disease involving the orbit and should be considered in the differential diagnosis of rapidly progressing orbital lesions presenting in early infancy. We review the current classification of rhabdoid tumors and the previous literature on orbital rhabdoid tumors.

Unlabelled: Tumors diagnosed during the first month of life are infrequent: 0.5 to 2% of all childhood neoplasms. This is an interesting group of tumors because their type, relative incidence, natural history and response to treatment differ from those seen in older children., Aim: To contribute the experience of our institution in congenital tumors the last 13 years., Material and Methods: The records of all neonates (< 31 days old) diagnosed with solid tumors since January 1990 to December 2002 have been retrospectively reviewed., Results: Twenty-seven neonates have been diagnosed with tumors in the last 13 years. Thirteen patients (48%) were prenatally diagnosed. Nine babies were diagnosed at the initial neonatal exam (40% of those diagnosedd after birth). Neuroblastoma was the commonest tumor (10 cases, 37%), of which 4 were stage I, 4 stage IV-S and 2 stage III. There were 8 teratomas (3 sacrocoxigeal, 1 retroperitoneal, 1 in the CNS, 1 orbitary and two oronasal), two hepatic tumors (1 hepatoblastoma, 1 hemangioendothelioma, two CNS tumors, two giant nevus (one on a hamartoma), and one each Wilms tumor, infantile fibrosarcoma and myofibroblastic tumor. Treatment was surgical resection alone in 17 cases (68%) and surgery + chemotherapy in 8 (32%) (5 neuroblastomas, one CNS tumor, one Wilms tumor and one presacral teratoma who developed a yolk sac tumor); 3 patients died (11%): one at surgery, one of tumoural airway obstruction at birth and one with craniopharyngioma. Among the 14 tumors that were initially not malignant, two can be locally agressive, one was an immature teratoma, the giant nevus with hamartoma developed in situ melanoma, the other nevus had meningeal melanosis with hydrocephalus, and one mature presacral teratoma developed a yolk sac tumor., Conclusions: Diagnosis of congenital tumors is performed earlier in recent years due to the wide use of prenatal ultrasound. Their natural history is more benign than in other age groups, except for CNS tumors and very large or obstructing tumors. The histological patern is not determinant of the outcome. Complete surgical excision is the treatment of choice, most cases not need adjuvant chemotherapy. We ought to pass this message on to our colleagues in prenatal diagnosis, so parents get reliable information.

Congenital mesoblastic nephroma is the most common renal mass in the newborn period and can present with atypical findings. Certain associated conditions such as hypercalcaemia, hypertension and reninism have been described. We report a cellular variant of congenital mesoblastic nephroma with hypercalcaemia and contralateral medullary nephrocalcinosis.

Background/purpose: Renal tumors are rare in infants less than 6 months of age and may have associated paraneoplastic symptoms. To better define the characteristics of these tumors the authors reviewed their 10-year institutional experience., Methods: The authors searched the pathology database to identify all renal tumors resected at their institution since 1992 (after IRB approval and guidelines). The clinical presentation, operative details, pathology, and outcome for all children < or = 6 months of age were reviewed., Results: Of 101 children who had renal tumors resected during this period, 11 (11 %) were 6 months of age or less. Histopathologic examination showed congenital mesoblastic nephroma (CMN) in 7 patients (4 with cellular features), Wilms' tumor in 3 patients, and ossifying renal tumor of infancy in 1. Renal masses were detected antenatally in 2 patients and during newborn examination in 1 patient; however, the mean age at diagnosis was 72 +/- 18 days. Ten children had a palpable abdominal mass, 3 had gross hematuria, and 6 had hypertension (4 CMN; 2 Wilms'). Only 1 child had hypercalcemia (cellular CMN). Ten infants had nephroureterectomy, and 1 had a partial nephrectomy. All patients had either stage I or II disease. At follow-up (mean 4.2 +/- 1.2 years) 10 patients are alive with no evidence of disease. One newborn with hydrops and a very large congenital Wilms' tumor had abdominal compartment syndrome and died during surgery., Conclusions: About 10% of renal masses may occur in infants less than 6 months of age. Although mesoblastic nephroma is the most common renal tumor in this age group, Wilms' tumor also may be seen. Paraneoplastic syndromes, such as hypertension and hypercalcemia, are common in these infants and are not specific for tumor type. These tumors generally present at an early stage and have an excellent prognosis overall.

Atypical teratoid/rhabdoid tumor of the CNS is an aggressive infantile neoplasm of uncertain origin. In our two infantile cases, this tumor presented as a bulky cerebellar hemispheric mass with significant mass effect to the fourth ventricle and brain stem. Although the attenuation on CT and signal intensity characteristics at MR imaging of this tumor were similar to those of vermian medulloblastoma, cerebellar hemispheric location and aggressive growth pattern could be considered as different gross morphologic characteristics of this tumor. Despite intensive chemotherapy and radiation therapy, both of our two patients died within 8 months of pathologic diagnosis.

In the present article, we report, for the first time, a prenatal diagnosis of a congenital mesoblastic nephroma in combination with a post-partum hyperreninemia with hypertension. A newborn was delivered at 35 weeks gestation who had an intrauterine diagnosis of a renal mass as early as 32 weeks gestational age by ultrasound examination. Tumor nephrectomy was performed on day 11 after delivery when an increase in hypertension was observed in the newborn.