Nephrotic syndrome in the first year of life, characterized by renal dysfunction and proteinuria, is associated with a heterogeneous group of disorders. These disorders are often related to genetic mutations, but the syndrome can also be caused by a variety of other diseases. We report an infant with nephrotic syndrome associated with a neuroblastoma. A 6-month-old girl was admitted with a 10% weight loss over 10 days and nephrotic-range proteinuria. She was ill-looking, and her blood pressure was higher than normal for her age. Her cystatin-C glomerular filtration rate was decreased, and levels of plasma renin, aldosterone, and catecholamines were elevated. Renal ultrasonography and abdominal computed tomography showed a retroperitoneal prevertebral mass encasing both renal arteries and the left renal vein. The mass was partially resected laparoscopically, and the pathologic diagnosis was neuroblastoma. Findings on a simultaneous renal biopsy were unremarkable. The patient was treated with chemotherapy and several anti-hypertensive drugs, including an alpha blocker. Two months later, the mass had decreased in size and the proteinuria and hypertension were gradually improving. In an infant with abnormal renin-angiotensin system activation, severe hypertension, and nephrotic-range proteinuria, neuroblastoma can be considered in the differential diagnosis.
Aldosterone ; Antihypertensive Agents ; Biopsy ; Blood Pressure ; Catecholamines ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Female ; Glomerular Filtration Rate ; Humans ; Hypertension ; Infant ; Nephrotic Syndrome ; Neuroblastoma ; Plasma ; Proteinuria ; Renal Artery ; Renal Veins ; Renin ; Renin-Angiotensin System ; Ultrasonography ; Weight Loss

Spontaneous rupture with internal bleeding of solid tumors has rarely been described at the time of diagnosis or during chemotherapy. This rare event must be regarded as a life threatening condition. In these emergency situations, control of hemorrhage, which is life-saving, can be achieved by transcatheter arterial embolization (TAE) and/or surgical resection. This report describes two infants presenting with acute hemorrhagic shock due to spontaneous tumor rupture of hepatoblastoma and neuroblastoma during chemotherapy. TAE successfully arrested the tumor bleeding and a visibly reduced the tumor size in both children. Spontaneous rupture of solid tumors occur infrequently in children, but is a life threatening situation. Careful monitoring for the occurrence of this rare event especially in very young children presenting with a large tumor mass.
Child ; Diagnosis ; Drug Therapy ; Emergencies ; Hemorrhage ; Hepatoblastoma ; Humans ; Infant ; Neuroblastoma ; Rupture ; Rupture, Spontaneous ; Shock, Hemorrhagic

BACKGROUND: To evaluate the value of random urinary vanillylmandelic acid (VMA) as a surrogate marker for monitoring tumor response and predicting outcome in patients with neuroblastoma (NB). METHODS: Medical records of 91 patients newly diagnosed with NB at the Samsung Medical Center between June 2014 and August 2017 were reviewed. Clinical associations and other prognostic factors, including age at diagnosis, stage, pathologic subtype, MYCN amplification, and other cytogenetic aberrations, were analyzed. Furthermore, the significance of random urinary VMA level in predicting outcome and tumor response was also evaluated. RESULTS: The median random urinary VMA level at diagnosis was 27.9 (range: 1.7–600) mg/g creatinine. Abdominal primary site, male sex, advanced stage, less differentiated pathology (poorly differentiated, undifferentiated), 11q deletion, and high-risk tumor were associated with a higher VMA level at diagnosis. The VMA level decreased during chemotherapy (28.4%, 16.9%, and 9.6% of the VMA level at diagnosis after 3, 6, and 9 cycles of chemotherapy, respectively). A higher VMA level at diagnosis tends to be associated with a better overall survival in high-risk patients with borderline significance (58.3±18.6% vs. 76.5±13.4%, P=0.050). However, in the multivariate analysis, the VMA level was not a significant predictor of survival. A slower reduction in VMA level during chemotherapy was not associated with a worse overall survival. However, event free survival was significantly better in the rapid responder group. CONCLUSION: A higher VMA level was associated with high-risk features at diagnosis of NB. Random urinary VMA is a valuable marker for monitoring NB response during chemotherapy.
Biomarkers ; Chromosome Aberrations ; Creatinine ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Humans ; Male ; Medical Records ; Multivariate Analysis ; Neuroblastoma* ; Pathology ; Prognosis ; Vanilmandelic Acid*

Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6x6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition.
Chemotherapy, Adjuvant ; Diagnosis, Differential ; Drug Therapy ; Humans ; Hypertension ; Infant, Newborn ; Kidney ; Membranes ; Nephrectomy ; Nephroma, Mesoblastic* ; Neuroblastoma ; Polyhydramnios ; Pregnancy ; Prenatal Diagnosis* ; Rupture ; Ultrasonography ; Ultrasonography, Prenatal ; Wilms Tumor

PURPOSE: Neonatal neuroblastoma (NBL) is the most common malignant tumor in neonates, but there have been few studies about it. The purpose of this study was to investigate the clinical features of NBL and to compare prenatal and postnatal diagnosed groups. METHODS: Nineteen patients who were diagnosed with NBL prenatally or within 28 days after birth from February 1986 to February 2013 in Seoul National University Hospital were enrolled in the study. The patients were categorized according to the International Neuroblastoma Staging System (INSS) and Children's Oncology Group (COG). Retrospective medical-record reviews were performed on these patients. The operative date, complication, pathological stage, and overall survival of the prenatally diagnosed group and the postpartum diagnosed group were compared. RESULTS: Tumor was detected via prenatal ultrasonography in 8 patients (42.1%), and 11 patients (57.9%) were diagnosed within 28 days after birth. Based on INSS, the patients were divided into the stage I (n=8), stage II (n=1), stage III (n=3), stage IV (n=4), and stage IVs (n=3) groups, respectively. Based on COG, on the other hand, the patients were divided into the low-risk (n=8), intermediate-risk (n=8), and high-risk (n=3) groups. The postoperative complication rate was 29%. One patient died from complications from chemotherapy. The other 18 patients' mean follow-up period was 77.7 months. The differences between the postoperative complication rate, proportion of early-stage tumor, and overall survival of the prenatal and postnatal groups were not statistically significant (p=0.446, p=0.607, p=0.414). CONCLUSION: NBL showed favorable outcomes but relatively higher postoperative complications. There seem to be no significant statistical differences in the postoperative complications, proportion of early-stage tumor, and overall survival between the prenatally diagnosed group and the postpartum diagnosed group.
Drug Therapy ; Follow-Up Studies ; Hand ; Humans ; Infant, Newborn ; Neuroblastoma* ; Parturition ; Postoperative Complications ; Postpartum Period* ; Prenatal Diagnosis ; Retrospective Studies ; Seoul ; Ultrasonography, Prenatal

BACKGROUND: The prognostic impact of the presence of differentiating neuroblasts in bone marrow (BM) remains unclear in BM metastatic neuroblastoma (NB). We aimed to identify the prognostic impact of differentiating neuroblasts in BM at diagnosis and after chemotherapy. METHODS: A total of 51 patients diagnosed with BM metastatic NB at Asan Medical Center between January 1990 and July 2005 were enrolled. BM histology and laboratory data along with overall survival (OS) were compared with regard to the differentiation status of neuroblasts in BM at diagnosis and after chemotherapy. RESULTS: Among the 51 patients, 13 (25.5%) exhibited differentiating neuroblasts in BM at diagnosis and 17/51 (33.3%) exhibited them after chemotherapy. The only significant difference among patient groups was the improved OS in patients with differentiated neuroblasts in BM at diagnosis (P=0.021). In contrast, the differentiation status of neuroblasts in BM after chemotherapy did not affect OS (P=0.852). CONCLUSIONS: Our study is the first report describing the presence of differentiating neuroblasts in BM. The presence of differentiating neuroblasts in BM at diagnosis may be a favorable prognostic factor for patients with BM metastatic NB; however, the same phenomenon after chemotherapy is irrelevant to prognosis.
Adolescent ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bone Marrow/*pathology ; Bone Marrow Cells/*cytology ; Bone Marrow Neoplasms/*diagnosis/secondary ; Cell Differentiation ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Karyotyping ; Male ; Neoplasm Grading ; Neuroblastoma/*diagnosis/drug therapy/pathology ; Prognosis ; Survival Analysis ; Young Adult

The aim of this study was to investigate the diphtheria-tetanus-pertussis antibody titers after antineoplastic treatment and to suggest an appropriate vaccination approach for pediatric hemato-oncologic patients. A total of 146 children with either malignancy in remission after cessation of therapy or bone marrow failure were recruited. All children had received routine immunization including diphtheria-tetanus-acellular pertussis vaccination before diagnosis of cancer. The serologic immunity to diphtheria, tetanus and pertussis was classified as: completely protective, partially protective, or non-protective. Non-protective serum antibody titer for diphtheria, tetanus and pertussis was detected in 6.2%, 11.6%, and 62.3% of patients, respectively, and partial protective serum antibody titer for diphtheria, tetanus and pertussis was seen in 37%, 28.1%, and 8.9% of patients. There was no significant correlation between the severity of immune defect and age, gender or underlying disease. Revaccination after antineoplastic therapy showed significantly higher levels of antibody for each vaccine antigen. Our data indicates that a large proportion of children lacked protective serum concentrations of antibodies against diphtheria, tetanus, and pertussis. This suggests that reimmunization of these patients is necessary after completion of antineoplastic treatment. Also, prospective studies should be undertaken with the aim of devising a common strategy of revaccination.
Adolescent ; Age Factors ; Antibodies, Bacterial/blood/immunology ; Antineoplastic Agents/therapeutic use ; Child ; Child, Preschool ; Diphtheria/immunology/prevention & control ; Diphtheria-Tetanus-acellular Pertussis Vaccines/*immunology ; Female ; Hematologic Neoplasms/*diagnosis/drug therapy ; Humans ; Immunization, Secondary ; Lymphoma/diagnosis/drug therapy ; Male ; Neuroblastoma/diagnosis/drug therapy ; Sex Factors ; Tetanus/immunology/prevention & control ; Whooping Cough/immunology/prevention & control

OBJECTIVEThe aim of the paper was to improve the prognosis of neuroblastoma (NB) stage III and IV in children through the comprehensive therapy including chemotherapy, delayed tumor resection, autologous stem cell transplantation (ASCT) and inducing differentiation and to analyze the factors affecting the prognosis.

METHODSNewly diagnosed neuroblastoma patients seen from Oct.1998 to Dec.2003 were divided into high, medium and low risk groups depending on clinical stage and age. Comprehensive protocol included accurate staging, delayed and/or second tumor resection for stage III and IV patients, chemotherapy of different intensity mainly composed of cell cycle nonspecific drugs and 13-cis-retinoid for inducing cell differentiation. ASCT was given at the end of therapy for high risk group.

RESULTForty-five patients, 6 months to 11 years of age, 32 males and 13 females, were analyzed. Of them, 15 were found to have the tumor in adrenal gland, 12 had the tumor extended to the retro-peritoneal space, while in 15 cases the tumor was beside the spinal column in chest and in 3 the tumor was located in other places. Nine cases had stage I, 1 case had stage II, 8 cases had III, 26 cases had stage IV and 1 case had stage IVs of the tumor. Depending on the age and stage of the tumor, 26 cases were aligned into high risk protocol, 10 into medium risk and 9 into low risk groups. Thirty nine cases were treated as planned. Eleven of them received ASCT including 2 cases who received second ASCT. Of the thirty-nine patients, 31 achieved complete remission (CR) and 8 partial remission (PR) after surgery and/or chemotherapy. During up to 21 months median following up period (range 14 to 64 months), 24 cases (62%) kept CR (median 22 months) and 4 survived with stable disease. The survival rate (SR) was 72%. Eleven cases died of relapse and disease progression. No death occurred from treatment complication. Statistical analysis showed that the age older than 18 months, and stage III and IV of the tumor were the factors predicting poor prognosis (P = 0.04 and 0.003, respectively). Patients who had the tumor originated from the retroperitoneal space, who had incomplete tumor resection, and those who did not receive ASCT had poorer prognosis, but the differences were not significant (P = 0.092, 0.55 and 0.60, respectively).

CONCLUSIONThe comprehensive protocol seemed to be reasonable. Age older than 18 months, and stage III and IV were the factors suggesting poor prognosis. The origin of the tumor, completeness of tumor resection, and use of ASCT had no significant impact on the prognosis.

Age Factors ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Chemotherapy, Adjuvant ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Hematopoietic Stem Cell Transplantation ; methods ; Humans ; Infant ; Male ; Neoplasm Recurrence, Local ; prevention & control ; surgery ; therapy ; Neoplasm Staging ; Neuroblastoma ; diagnosis ; drug therapy ; mortality ; pathology ; surgery ; therapy ; Prognosis ; Remission Induction ; methods ; Retrospective Studies ; Severity of Illness Index ; Survival Rate ; Time Factors ; Transplantation, Autologous ; methods ; Treatment Outcome

OBJECTIVE: Neuroblastoma is a very common pediatric malignant tumor and sometimes involves the spinal cord to result in neurological deficits. The authors perform a retrospective analysis of the 12 cases of pediatric neuroblastoma with spinal involvement to assess the characteristics and surgical outcome. METHODS: We retrospectively reviewed the 12 cases of pediatric neuroblastoma with spinal involvement which underwent surgery from 1988 to 2002 in our hospital. All the cases were confirmed by pathologic diagnosis and reviewed about initial presentation, the location of tumor, treatment, outcome and complication. RESULTS: The ratio of male to female was 1: 2 and mean age was 3.5 years(0.3-13.6). The chief complaint was motor weakness in 7 cases, mass in 2, urinary incontinence in one and 2 cases were asymptomatic. The tumor involved thoracic level in 5 cases, thoracolumbar level in 3, cervicothoracic level in 2, cervical and lumbar levels in one case each. All the cases underwent surgery, four had chemotherapy and four had both chemotherapy and radiotherapy. After 33.9 months of mean follow up, in all of the 4 cases whose intraspinal tumor was gross-totally resected, neurological status improved. Of the 4 cases with subtotal resection, all except one showed progression or no neurologic improvement. Postoperative spinal deformity has developed in 5 cases. Three cases expired because of chemotherapy complication and tumor progression. CONCLUSION: Active surgery about the spinal involvement of pediatric neuroblastoma shows neurological improvement regardless of the survival. It seems to be helpful to the quality of life in pediatric patients.
Congenital Abnormalities ; Diagnosis ; Drug Therapy ; Female ; Follow-Up Studies ; Humans ; Male ; Neuroblastoma* ; Quality of Life ; Radiotherapy ; Retrospective Studies ; Spinal Cord ; Urinary Incontinence

PURPOSE: A case of proptosis due to orbital metastasis of neuroblstoma and review of the current literature on neuroblastoma METHODS: A 8-month-old female presented with proptosis due to neuroblastoma involving skull and bone marrow. RESULTS: Proptosis was improved following chemotherapy. CONCLUSIONS: In case of infant who has a proptosis and periorbital ecchymosis without a primary lesion or a specific history, neuroblastoma may be considered as a differential diagnosis.
Bone Marrow ; Diagnosis, Differential ; Drug Therapy* ; Ecchymosis ; Exophthalmos* ; Female ; Humans ; Infant ; Neoplasm Metastasis ; Neuroblastoma* ; Orbit ; Skull