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1.
Medicine (Baltimore) ; 100(3): e24034, 2021 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-33546001

RESUMO

RATIONALE: Fetal congenital mesoblastic nephroma (CMN) is a rare renal tumor, characterized by polyhydramnios, premature birth, and neonatal hypertension. In the prenatal stage, it is particularly difficult to diagnose CMN either by ultrasonography or magnetic resonance imaging (MRI). Thus, CMN is frequently detected in the third trimester in the clinical scenario. PATIENT CONCERNS: A 29-year-old G2P0 pregnant woman took routine prenatal examinations in our hospital. The fetal right kidney abnormality was not observed after 2 systematical ultrasonic examinations (at 24 and 31 weeks of gestation respectively), and only an increase was noticed in the amniotic fluid index (from 19.3 to 20.8 cm). DIAGNOSIS: CMN was detected by antenatal ultrasonography and MRI as a fetal right renal mass at 35 weeks of gestation in our hospital. INTERVENTIONS: The pregnant woman was admitted at a gestational age of 38 weeks and 5 days due to alterations in renal function. Further, the pregnant woman was administered with "oxytocin" to promote delivery, and the neonate underwent a right nephrectomy on the 9th day after birth. OUTCOMES: The pathological examination confirmed a cellular type of right CMN. The neonate recovered well after operation without adjuvant treatment. During 6 months of follow-up, the neonate grew well and showed no signs of recurrence or metastasis. CONCLUSION: Polyhydramnios detected during prenatal examination required attention due to the risk of malformation of fetal urinary system. Prenatal ultrasonography combined with MRI could not only clearly identify the origin of the tumor, but also distinguish the correlation between the tumor and adjacent structures, thereby leading to early diagnosis and favorable prognosis.


Assuntos
Feto/diagnóstico por imagem , Neoplasias Renais/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Nefroma Mesoblástico/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Neoplasias Renais/embriologia , Neoplasias Renais/cirurgia , Imagem Multimodal , Nefrectomia , Nefroma Mesoblástico/embriologia , Nefroma Mesoblástico/cirurgia , Gravidez
2.
Nat Commun ; 11(1): 1310, 2020 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-32161258

RESUMO

Kidney tumours are among the most common solid tumours in children, comprising distinct subtypes differing in many aspects, including cell-of-origin, genetics, and pathology. Pre-clinical cell models capturing the disease heterogeneity are currently lacking. Here, we describe the first paediatric cancer organoid biobank. It contains tumour and matching normal kidney organoids from over 50 children with different subtypes of kidney cancer, including Wilms tumours, malignant rhabdoid tumours, renal cell carcinomas, and congenital mesoblastic nephromas. Paediatric kidney tumour organoids retain key properties of native tumours, useful for revealing patient-specific drug sensitivities. Using single cell RNA-sequencing and high resolution 3D imaging, we further demonstrate that organoid cultures derived from Wilms tumours consist of multiple different cell types, including epithelial, stromal and blastemal-like cells. Our organoid biobank captures the heterogeneity of paediatric kidney tumours, providing a representative collection of well-characterised models for basic cancer research, drug-screening and personalised medicine.


Assuntos
Bancos de Espécimes Biológicos , Neoplasias Renais/genética , Rim/patologia , Organoides/patologia , Adolescente , Carcinoma de Células Renais/tratamento farmacológico , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Técnicas de Cultura de Células/métodos , Criança , Pré-Escolar , Metilação de DNA , Ensaios de Seleção de Medicamentos Antitumorais/métodos , Feminino , Regulação Neoplásica da Expressão Gênica , Heterogeneidade Genética , Técnicas de Genotipagem , Humanos , Lactente , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/patologia , Masculino , Nefroma Mesoblástico/tratamento farmacológico , Nefroma Mesoblástico/genética , Nefroma Mesoblástico/patologia , Países Baixos , Medicina de Precisão/métodos , RNA-Seq , Tumor Rabdoide/tratamento farmacológico , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Análise de Célula Única , Transfecção , Células Tumorais Cultivadas , Sequenciamento Completo do Genoma , Tumor de Wilms/tratamento farmacológico , Tumor de Wilms/genética , Tumor de Wilms/patologia , Adulto Jovem
3.
Ann R Coll Surg Engl ; 102(1): 67-70, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31508997

RESUMO

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.


Assuntos
Neoplasias Renais/congênito , Nefroma Mesoblástico/congênito , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimiorradioterapia/mortalidade , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Recém-Nascido , Neoplasias Renais/mortalidade , Neoplasias Renais/terapia , Laparoscopia/estatística & dados numéricos , Neoplasias Pulmonares/secundário , Masculino , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/terapia , Nefroma Mesoblástico/mortalidade , Nefroma Mesoblástico/terapia , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento
4.
BMJ Case Rep ; 12(8)2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31466985

RESUMO

Congenital mesoblastic nephromais a rare tumour found in neonates, with a very small number of cases diagnosed prenatally. We report a case of a fetal renal tumour suspected at 28 weeks' gestation on routine ultrasound. Prenatal follow-up revealed a severe polyhydramnios at 32 weeks' gestation subsequent amniodrainage was undertaken. She delivered at 34+5 weeks' gestation, after spontaneous premature rupture of membranes.


Assuntos
Neoplasias Renais/patologia , Nefroma Mesoblástico/patologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Adulto , Cesárea/métodos , Deficiências do Desenvolvimento/etiologia , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Neoplasias Renais/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Microcefalia/etiologia , Nefroma Mesoblástico/diagnóstico por imagem , Nefroma Mesoblástico/ultraestrutura , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/terapia , Gravidez , Segundo Trimestre da Gravidez , Prognóstico , Ultrassonografia Pré-Natal/métodos
6.
Pathologe ; 40(6): 600-608, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31338565

RESUMO

Pediatric kidney tumors are rare and account for about 6% of all childhood malignancies. By far the most common tumors are nephroblastomas. This review presents rare childhood renal tumors. Mesoblastic nephroma, as tumors of the low risk group, as well as the clear-cell sarcomas of the kidney and malignant rhabdoid tumors, as tumors of the high-risk group, and the so-called anaplastic sarcomas of the kidney will be discussed.Due to the significantly divergent therapy, a correct diagnosis is important. Due to the often overlapping morphology, pathologic diagnosis is often difficult. In addition to the typical morphologic features, the specific immunohistochemical aspects as well as the known molecular changes will be presented.


Assuntos
Neoplasias Renais , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Neoplasias Renais/patologia , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/genética , Nefroma Mesoblástico/patologia , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Tumor de Wilms/diagnóstico , Tumor de Wilms/genética , Tumor de Wilms/patologia
8.
J Nippon Med Sch ; 85(5): 297-299, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30464149

RESUMO

Congenital mesoblastic nephroma (CMN) is a rare tumor of infancy. CMNs can be histologically divided into classic, cellular, and mixed subtypes. Cellular CMNs are difficult to differentiate from Wilms tumors. Herein, a neonate with cellular CMN accompanied by macroscopic hematuria, is described. The clinical, pathological, and imaging features of the disease are discussed.


Assuntos
Hematúria/etiologia , Neoplasias Renais/complicações , Nefroma Mesoblástico/complicações , Diagnóstico Diferencial , Humanos , Lactente , Rim/diagnóstico por imagem , Rim/patologia , Neoplasias Renais/classificação , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Masculino , Nefrectomia , Nefroma Mesoblástico/diagnóstico por imagem , Nefroma Mesoblástico/patologia , Nefroma Mesoblástico/cirurgia , Tomografia Computadorizada por Raios X , Ultrassonografia , Tumor de Wilms
9.
Turk J Pediatr ; 60(2): 198-200, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30325129

RESUMO

Soyaltin E, Alaygut D, Alparslan C, Özdemir T, Arslansoyu-Çamlar S, Mutlubas F, Kasap-Demir B, Yavascan Ö. A rare cause of neonatal hypertension: Congenital mesoblastic nephroma. Turk J Pediatr 2018; 60: 198-200. A rare cause of neonatal hypertension: Congenital Mesoblastic Nephroma (CMN) is a rare renal tumor in childhood and has been reported with palpable abdominal mass, hypertension, hematuria, polyuria and hypercalcemia. Histopathologically it has been classified into two histological types: classic and cellular. We present a 32-week gestation infant and his histopathology reports of cellular CMN presented with refractory hypertension.


Assuntos
Hipertensão/etiologia , Neoplasias Renais/complicações , Nefroma Mesoblástico/complicações , Anti-Hipertensivos/uso terapêutico , Pressão Sanguínea , Idade Gestacional , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/cirurgia , Recém-Nascido , Doenças do Recém-Nascido , Rim/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Laparotomia/métodos , Masculino , Nefrectomia/métodos , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/cirurgia
10.
J Pediatr Urol ; 14(6): 571.e1-571.e6, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30145031

RESUMO

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.


Assuntos
Neoplasias Renais/congênito , Neoplasias Renais/diagnóstico por imagem , Nefroma Mesoblástico/congênito , Nefroma Mesoblástico/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Correlação de Dados , Feminino , Humanos , Lactente , Neoplasias Renais/patologia , Masculino , Nefroma Mesoblástico/patologia , Estudos Retrospectivos , Ultrassonografia
11.
Nat Commun ; 9(1): 2378, 2018 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-29915264

RESUMO

Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors.


Assuntos
Fibrossarcoma/genética , Genes erbB-1 , Neoplasias Renais/genética , Nefroma Mesoblástico/genética , Proteínas Proto-Oncogênicas B-raf/genética , Feminino , Rearranjo Gênico , Humanos , Lactente , Recém-Nascido , Masculino
12.
Pediatr Blood Cancer ; 65(10): e27271, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29893456

RESUMO

Mesoblastic nephroma is the most frequent renal tumor in newborns and young infants, and the cellular type is characterized by an ETV6-NTRK fusion, which constitutively activates the tropomyosin-related kinase (TRK) signaling pathway. Larotrectinib is a highly selective TRK inhibitor with activity in adult and pediatric patients who have TRK fusions. We present a rare case of a patient with mesoblastic nephroma metastatic to bone who had a dramatic response to larotrectinib.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias Ósseas/tratamento farmacológico , Remodelação Óssea/efeitos dos fármacos , Neoplasias Renais/tratamento farmacológico , Nefroma Mesoblástico/tratamento farmacológico , Pirazóis/uso terapêutico , Pirimidinas/uso terapêutico , Neoplasias Ósseas/genética , Neoplasias Ósseas/secundário , Humanos , Lactente , Neoplasias Renais/genética , Neoplasias Renais/patologia , Masculino , Nefroma Mesoblástico/genética , Nefroma Mesoblástico/secundário , Proteínas de Fusão Oncogênica/genética
13.
Am J Surg Pathol ; 42(7): 927-935, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29683818

RESUMO

Activating neurotrophic receptor kinase (NTRK) fusions define certain pediatric mesenchymal tumors, including infantile fibrosarcoma and cellular mesoblastic nephroma. Traditionally, molecular confirmation of these fusions has included either fluorescent in situ hybridization for ETV6 rearrangements or reverse-transcriptase polymerase chain reaction for the classic ETV6-NTRK3 fusion. However, these methods overlook variant NTRK rearrangements, which are increasingly appreciated as recurrent events in a subset of pediatric mesenchymal tumors. New therapeutic agents successfully target these fusions and may prevent morbid surgeries in very young children, making recognition of tumors harboring NTRK rearrangements of increasing importance. We evaluated the performance of immunohistochemical (IHC) staining using pan-Trk and TrkA antibodies in 79 pediatric mesenchymal tumors. Negative controls included pediatric mesenchymal tumors not harboring (n=28) or not expected to harbor (n=22) NTRK fusions. NTRK rearrangements were detected predominantly by DNA-based next-generation sequencing assays, specifically UW OncoPlex and UCSF500 Cancer Gene Panel. Pan-Trk IHC (EPR17341) was 97% sensitive and 98% specific for the presence of an NTRK rearrangement, and TrkA IHC (EP1058Y) was 100% sensitive and 63% specific for the presence of an NTRK rearrangement. Tumors with NTRK1 or NTRK2 rearrangements showed cytoplasmic staining, whereas tumors with NTRK3 rearrangements showed nuclear +/- cytoplasmic staining. We conclude that pan-Trk IHC is a highly sensitive and specific marker for NTRK rearrangements in pediatric mesenchymal tumors.


Assuntos
Biomarcadores Tumorais , Fibrossarcoma/enzimologia , Fibrossarcoma/genética , Rearranjo Gênico , Imuno-Histoquímica , Neoplasias Renais/enzimologia , Neoplasias Renais/genética , Nefroma Mesoblástico/enzimologia , Nefroma Mesoblástico/genética , Receptores de Fator de Crescimento Neural , Idade de Início , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Fibrossarcoma/patologia , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Neoplasias Renais/patologia , Glicoproteínas de Membrana/genética , Nefroma Mesoblástico/patologia , Fenótipo , Valor Preditivo dos Testes , Receptor trkA/genética , Receptor trkB/genética , Receptor trkC/genética , Receptores de Fator de Crescimento Neural/análise , Receptores de Fator de Crescimento Neural/genética , Estados Unidos
15.
Pediatr Blood Cancer ; 65(4)2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29286563

RESUMO

BACKGROUND: Congenital mesoblastic nephroma (MN) is a rare pediatric renal tumor representing approximately 5% of all pediatric renal tumors. Three different types of MN are distinguished histologically: classical, cellular, and mixed. A frequent genetic alteration is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusively in cellular MN. The aim of this study was to determine translocation status of a large cohort of MN with respect to tumor subtype and outcome. PROCEDURE: In total, clinical data from 111 patients were available. Sixty-seven tumors were classical MN (51%), 29 cellular MN (31%), and 15 were mixed MN (18%). From these 111 cases, 79 were analyzed by FISH and RT-PCR. RESULTS: All classical and mixed MN were translocation negative. Seventeen out of 29 (58%) cellular MN harbored the ETV6-NTRK3 translocation. Five-year relapse-free survival (RFS) and overall survival (OS) were 93.2% and 96.8% for the complete cohort. All seven relapses occurred in translocation negative tumors. Five-year RFS was significantly inferior for cellular and mixed MN compared to classic MN (89%, 80%, and 98%), whereas 5-year OS was similar (93%, 96%, and 98%). Within the group of cellular MN, patients having translocation-positive tumors had a significantly superior RFS (5-year RFS: 100% vs. 73%). CONCLUSION: The majority of cellular MNs harbor the ETV6-NTKR3 gene fusion, whereas all classic- and mixed-type MNs were translocation negative. Within the cellular subgroup, patients having translocation-positive tumors had a significantly superior RFS.


Assuntos
Cromossomos Humanos Par 12 , Cromossomos Humanos Par 15 , Nefroma Mesoblástico , Proteínas de Fusão Oncogênica , Translocação Genética , Cromossomos Humanos Par 12/genética , Cromossomos Humanos Par 12/metabolismo , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 15/metabolismo , Intervalo Livre de Doença , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Nefroma Mesoblástico/genética , Nefroma Mesoblástico/metabolismo , Nefroma Mesoblástico/mortalidade , Nefroma Mesoblástico/patologia , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Taxa de Sobrevida
16.
Mod Pathol ; 31(3): 463-473, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29099503

RESUMO

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.


Assuntos
Proteínas de Ciclo Celular/genética , Receptor com Domínio Discoidina 2/genética , Fibrossarcoma/diagnóstico , Neoplasias Renais/diagnóstico , Proteínas Associadas aos Microtúbulos/genética , Recidiva Local de Neoplasia/genética , Nefroma Mesoblástico/diagnóstico , Proteínas de Fusão Oncogênica/genética , Serina Endopeptidases/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/genética , Carcinoma/genética , Pré-Escolar , Feminino , Fibrossarcoma/genética , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Neoplasias Renais/congênito , Neoplasias Renais/genética , Masculino , Pessoa de Meia-Idade , Nefroma Mesoblástico/congênito , Nefroma Mesoblástico/genética , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , Análise de Sequência de RNA
17.
Pediatr Surg Int ; 33(11): 1183-1188, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28856451

RESUMO

PURPOSE: Fifty years ago, Bolande described Congenital Mesoblastic Nephroma (CMN) as a benign lesion. Unexpected aggressive clinical behaviors prompted a sub-classification based on histology. Recent molecular genetic evidence has identified the aggressive cellular variant to be the renal manifestation of congenital infantile fibrosarcoma. We submit a reappraisal and analysis of the available literature on recurrent and metastatic CMN. METHODS: An electronic search of PubMed, MEDLINE, EMBASE, and Scopus yielded 38 children with local recurrence and/or metastases. RESULTS: Of the 38 children with local recurrence and/or metastasis, 59% were girls. Median time to recurrence was 6 months (range 1-12 months). The commonest sites of metastases were the lung (39%) and liver (29%). Fifty percent of these children died of disease. The outcome of additional chemotherapy (p = 0.5) did not differ from that of surgery alone. The choice of chemotherapy did not influence the outcome (p = 0.6). CONCLUSIONS: Recurrence and metastasis in cellular CMN are much more common than described earlier and carry a high mortality. Children with cellular and mixed CMN require close clinical and radiological follow-up for a minimum of 12 months after primary surgery. Surgery is the mainstay of the treatment of recurrent and metastatic lesions. Neoadjuvant chemotherapy is recommended only if the lesion is inoperable. Targeted therapy may be an option in treatment of refractory cases.


Assuntos
Neoplasias Renais , Recidiva Local de Neoplasia/epidemiologia , Nefroma Mesoblástico , Criança , Saúde Global , Humanos , Incidência , Neoplasias Renais/diagnóstico , Neoplasias Renais/epidemiologia , Neoplasias Renais/secundário , Metástase Neoplásica , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/epidemiologia , Nefroma Mesoblástico/secundário , Taxa de Sobrevida/tendências
18.
Pathologe ; 38(4): 278-285, 2017 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-28643124

RESUMO

Solid tumors in childhood are extremely rare entities, which are usually treated in specialized centers. Diagnosis and therapy are carried out according to a joint European protocol, whereby the pathological evaluation and therapy are carried out according to international guidelines. For the correct diagnosis and/or therapy of most tumors, analysis of specific genetic changes is mandatory; therefore, tumors have to be adequately sampled for parallel genetic analysis during the pathological work-up. A second opinion reference of the histopathological assessment is part of the international guidelines. Neuroblastomas, congenital mesoblastic nephromas and rhabdoid tumors are examples of solid tumors in childhood that are not restricted to one organ and occur exclusively during childhood.


Assuntos
Neoplasias/patologia , Doenças Raras , Criança , Pré-Escolar , Feminino , Fidelidade a Diretrizes , Humanos , Lactente , Recém-Nascido , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Neoplasias/diagnóstico , Neoplasias/genética , Neoplasias/terapia , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/genética , Nefroma Mesoblástico/patologia , Nefroma Mesoblástico/terapia , Neuroblastoma/diagnóstico , Neuroblastoma/genética , Neuroblastoma/patologia , Neuroblastoma/terapia , Gravidez , Proteínas Proto-Oncogênicas c-myc/genética , Encaminhamento e Consulta , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Tumor Rabdoide/terapia , Proteína SMARCB1/genética
19.
J Neonatal Perinatal Med ; 10(1): 113-118, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28282819

RESUMO

Congenital mesoblastic nephroma (CMN) is the most common renal tumor of infancy; however, it occurs infrequently with an incidence of 1 : 125,000. The cellular and classical variants are the most common subtypes of tumors, with a mixed variant occurring infrequently. We describe two cases of mixed variant CMN, which presented within days of each other differing in their clinical behavior. The first case followed a typical course, previously described in the literature, while the other deviated significantly. Traditionally, CMN presents as large abdominal mass in the neonatal period associated with a paraneoplastic syndrome, which can result in hypertension or hypercalcemia. Surgical resection is curative in most cases and long-term prognosis is excellent. Hypertension rarely persists after removal of the tumor, but remained in one of our two patients.


Assuntos
Neoplasias Renais/diagnóstico por imagem , Nefroma Mesoblástico/diagnóstico por imagem , Adulto , Feminino , Humanos , Hipertensão/etiologia , Recém-Nascido , Recém-Nascido Prematuro , Neoplasias Renais/complicações , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Excisão de Linfonodo , Imagem por Ressonância Magnética , Masculino , Nefrectomia , Nefroma Mesoblástico/complicações , Nefroma Mesoblástico/patologia , Nefroma Mesoblástico/cirurgia , Síndromes Paraneoplásicas/etiologia , Gravidez , Radiografia
20.
BMC Cancer ; 17(1): 146, 2017 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-28222777

RESUMO

BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples. RESULTS: A nonsense germ-line mutation in DICER1 causing a truncated protein at the IIIb domain level was identified segregating within a family including two affected relatives who developed in one case cystic nephroma and pleuropulmonary blastoma, and rhabdomyosarcoma and multinodular goiter in the other. Additional in trans DICER1 missense somatic mutations in the IIIb DICER1 domain were found both in the cystic nephroma and in the rhabdomyosarcoma, suggesting that neoplasms in this family might arise from the unusual two-hit mechanism for DICER-derived tumorigenesis in which after the presence of a truncated constitutive protein, a neomorphic DICER1 activity is somatically adquired. Additional genetic alterations, such as TP53 mutations, were identified in the rhabdomyosarcoma. CONCLUSIONS: Besides DICER1 loss of standard activity, oncogenic cooperation of other genes, as mutated TP53, may involve developing higher grade tumors within this syndrome. Given the broad clinical spectrum that may arise, genetic counseling and close surveillance must be offered to all family members at risk of DICER1 syndrome.


Assuntos
RNA Helicases DEAD-box/genética , Mutação em Linhagem Germinativa , Nefroma Mesoblástico/genética , Blastoma Pulmonar/genética , Rabdomiossarcoma/genética , Ribonuclease III/genética , Pré-Escolar , Códon sem Sentido , RNA Helicases DEAD-box/química , RNA Helicases DEAD-box/metabolismo , Feminino , Humanos , Masculino , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Nefroma Mesoblástico/patologia , Linhagem , Domínios Proteicos , Blastoma Pulmonar/patologia , Rabdomiossarcoma/patologia , Ribonuclease III/química , Ribonuclease III/metabolismo , Proteína Supressora de Tumor p53/genética , Adulto Jovem
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