Metastatic congenital neuroblastoma associated with in situ neuroblastoma: case report and review of literature

Although neonatal tumors are rare, neuroblastoma is the most common neoplasia among them. These tumors, which usually involve children in early infancy, are derived from neural crest cells of adrenal gland medulla or sympathetic ganglia. Even though congenital metastatic neuroblastoma presents a favorable prognosis, it may lead to death if not recognized and treated early on. The authors report the case of a 2-month-old child who was born from in vitro fertilization, and whose diagnosis was made after birth. The form of presentation of this case as a metastatic disease concerning this age group is noteworthy

Retinoblastoma: A Three-Year-Study at a Brazilian Medical School Hospital

OBJECTIVE: To present the characteristics and treatment outcomes of patients with retinoblastoma. METHODS: A retrospective case series was conducted to review the records of all new patients diagnosed with retinoblastoma between 2003 and 2005. Eyes with early disease, or advanced disease with potential vision were treated with chemotherapy (carboplatin and etoposide) in conjunction with early local therapy (laser or cryo). Radiotherapy was used in cases where the disease did not respond to the above protocols or in recurrent cases. Eyes in the late stage of disease with no potential vision in the initial examination or eyes and where conservative treatment had failed were enucleated. RESULTS: In total, we reviewed 28 new cases of retinoblastoma, 15 of which were unilateral and 13 of which were bilateral (46%). These data correspond to a mean of 9.3 new cases per year (0.77 case/ month). The mean age at diagnosis was 33.8 months for unilateral cases, and 19.15 months for bilateral cases (p=0.015). Leucocoria was the major presenting symptom (75%). All but one patient with unilateral disease had the affected eye enucleated due to advanced disease (mean follow-up: 39.91 months). Among the 13 bilateral cases, 13 eyes (50%) were enucleated, 11 eyes (42.4%) were saved with chemotherapy in conjunction with local therapy and 2 eyes (7.6%) were saved using external beam radiotherapy (mean follow-up: 41.91 months). In unilateral and bilateral disease, pathology data revealed choroid involvement in 50% and 30%, respectively, and optic nerve invasion in 92% and 50%, respectively. CONCLUSION: In this population, retinoblastoma was diagnosed too late and most eyes were consequently enucleated. In cases with bilateral disease, half of the eyes were preserved

New concepts and outcomes for children with hepatoblastoma based on the experience of a tertiary center over the last 21 years

OBJECTIVE: The aim of this study was to summarize the experience of a tertiary center in treating hepatoblastoma for the last 21 years. PATIENTS AND METHODS: Fifty-eight cases were included. The tumor extent and prognosis were assessed using the PRETEXT system. The following data were analyzed: age at diagnosis, comorbidities, prematurity, treatment modalities, histopathological findings, surgical details and complications, treatment outcomes, chemotherapy schedules, side effects and complications. Treatment outcomes included the occurrence of local or distant recurrence, the duration of survival and the cause of death. The investigation methods were ultrasonography, CT scan, serum alpha-fetoprotein level measurement and needle biopsy. Chemotherapy was then planned, and the resectability of the tumor was reevaluated via another CT scan. RESULTS: The mean numbers of neoadjuvant cycles and postoperative cycles of chemotherapy were 6±2 and 1.5±1.7, respectively. All children except one were submitted for surgical resection, including 50 partial liver resections and 7 liver transplantations. Statistical comparisons demonstrated that long-term survival was associated with the absence of metastasis (p=0.04) and the type of surgery (resection resulted in a better outcome than transplantation) (p=0.009). No associations were found between vascular invasion, incomplete resection, histological subtype, multicentricity and survival. The overall 5-year survival rate of the operated cases was 87.7%. CONCLUSION: In conclusion, the experience of a Brazilian tertiary center in the management of hepatoblastoma in children demonstrates that long survival is associated with the absence of metastasis and the type of surgery. A multidisciplinary treatment involving chemotherapy, surgical resection and liver transplantation (including transplantations using tissue from living donors) led to good outcomes and survival indexes

A t (9;11) translocation in childhood acute mixed leukemia

We present the case of a child with acute lymphoid leukemia (ALL) who was morphologically classified as FAB L1 (PAS and peroxidase were negative). Remission was achieved with an ALL-type protocol (GBTLI). Five months after the discontinuation of therapy, the patient presented mixed leukemia (CD10, CD19, CD13 and CD33 were positive) with t (9;11) (p21;q23) translocation. Unfortunately, as cytogenetic and immunophenotype studies were not performed at diagnosis, two possibilities could be considered for the relapse; secondary mixed leukemia with clonal chromosome changes, or mixed leukemia from the beginning.Apresentamos o caso de uma criança com leucemia aguda classificada morfologicamente como LLA (leucemia linfóide aguda) FAB L1 (PAS e peroxidase negativos) que alcançou remissão com protocolo para LLA (GBTLI). Após cinco meses fora de terapia desenvolveu uma leucemia mista (CD10, CD19, CD13 e CD33 positivos) com translocação t(9; 11)(p21;q23). Como, infelizmente, os estudos de citogenética e imunofenotipagem não foram realizados ao diagnóstico, pode-se considerar duas possibilidades para a recaída: uma leucemia mista secundária com alteração cromossômica clonal ou uma leucemia mista desde o início.Escola Paulista de Medicina Department of HematologyUniversidade de São Paulo Instituto da CriançaSt. Jude Children's Research Hospital Cytogenetic LaboratoryUNIFESP, EPM, Department of HematologySciEL

Castleman disease: an uncommon diagnosis in pediatrics

First described by Dr. Benjamin Castleman in 1956, Castleman disease is an uncommon disease of an etiology that is not yet thoroughly known. Three distinct histological subtypes have already been described: hyaline-vascular-, plasma cell-, and human herpes virus 8-associated variant, clinically distinguished in multi or unicentric types. Castleman disease is occasionally diagnosed in children, but more often in young adults, with no gender predominance. The symptoms are rather heterogeneous, varying from an asymptomatic mass in the unicentric Castleman disease type, to life-threatening systemic inflammatory state with systemic symptoms in the multicentric Castleman disease type. The authors report a case of a 15-year-old boy who sought medical attention due to a cervical tumor mass, without systemic symptoms. Pathology exam of the excised mass diagnosed a very typical example of the hyaline-vascular unicentric type of Castleman disease

An unusual abdominal wall mass in a child

Abdominal tumors are one of the most common types of pediatric cancer. Therefore, they should always be included in the differential diagnosis of abdominal masses. Here, we present the case of a child whose initial hypothesis of diagnosis contemplated this possibility. Later, it was demonstrated that the abdominal mass found was secondary to a common parasitosis. A 2-year old, moderately malnourished and pale white boy was referred with a history of a rapidly growing, well-limited, middle abdominal mass. The mass was 10 by 3 cm, hard and poorly movable, apparently involving both abdominal rectus muscles. A complete resection was performed, revealing an abdominal wall abscess, with intense eosinophilic proliferation, secondary to a local and intense reaction to innumerous Ascaris lumbricoides eggs. Extra luminal infestations with Ascaris, that usually form peritoneal granulomas have been previously described. However, neither external trauma nor fistula, that could explain the superficial presence of the eggs, was found. This description reinforces the relevance of infectious diseases within the differential diagnosis of abdominal masses, particularly in areas with high prevalence of parasitic infestations

Major discrepancy between clinical diagnosis of death and anatomopathological findings in adolescents with chronic diseases during 18-years

Objectives: To evaluate the inconsistency between clinical diagnosis of death and autopsy findings in adolescents with chronic diseases. Methods: A cross-sectional study including a sample of adolescents’ autopsies who died in a pediatric and adolescent tertiary hospital over 18 consecutive years. During this period, there were n = 2912 deaths, and n = 581/2912(20%) occurred in adolescents. Of these, n = 85/581(15%) underwent autopsies and were analyzed. Further results were divided into two groups: Goldman classes I or II (high disagreement between main clinical diagnosis of death and anatomopathological findings, n = 26) and Goldman classes III, IV or V (low or no disagreement between these two parameters, n = 59). Results: Median age at death (13.5 [10‒19] vs. 13 [10‒19] years, p = 0.495) and disease duration (22 [0‒164] vs. 20 [0‒200] months, p = 0.931), and frequencies for males (58% vs. 44%, p = 0.247) were similar between class I/II vs. class III/IV/V. The frequency of pneumonia (73% vs. 48%, p = 0.029), pulmonary abscess (12% vs. 0%, p = 0.026), as well as isolation of yeast (27% vs. 5%, p = 0.008), and virus (15% vs. 2%, p = 0.029) identified in the autopsy, were significantly higher in adolescents with Goldman class I/II compared to those with Goldman class III/IV/V. In contrast, cerebral edema was significantly lower in adolescents of the first group (4% vs. 25%, p = 0.018). Conclusion: This study showed that 30% of the adolescents with chronic diseases had major discrepancies between clinical diagnosis of death and autopsy findings. Pneumonia, pulmonary abscess, as well as isolation of yeast and virus were more frequently identified at autopsy findings in the groups with major discrepancies

Pediatric Genitourinary Oncology

Tumours of kidney, bladder, prostate, testis and adrenal represent a large part of the adult urologic practice, but are relatively infrequent in children. The natural history and management of these tumours in the pediatric age is different from that of adults. As result of the successful work of several clinical trial groups in recent decades, there has been a significant improvement in their cure rates. The aim of this article is to review their most significant clinical aspects, as well as to present an update in their management

Evaluation of Adrenal Reserve in Children with Acute Lymphocytic Leukemia Treated with Prednisone or Dexamethasone

Background/Aims: The purpose of this study was to compare adrenal gland reserve in acute lymphocytic leukemia (ALL) patients 8 weeks after treatment with either prednisone (PRED) or dexamethasone (DEX) during the induction phase of therapy. Methods: A double-blind comparative study of patients treated with PRED and DEX was performed. Sixteen patients received PRED (40 mg/m(2)/day) and 13 patients received DEX (6 mg/m(2)/day), both for 28 days. A low-dose adrenocorticotropic hormone test (1.0 mu g/m(2), IV) was performed before and weekly for 8 weeks after abrupt cessation of glucocorticoid therapy. Sixteen children without ALL were used as controls to determine the cutoff peak cortisol level (14.2 mu g/dl). Results: Both groups (PRED and DEX) displayed similar mean peak cortisol levels before treatment and during the 8 weeks of evaluation (p = 0.652). No relationship was observed between the incidence of infection/stress and peak cortisol level within each group, nor was there a difference in the frequency of infection/stress between groups (p = 0.359). Although the patients presented variations in peak cortisol during the study period, no signs or symptoms of adrenal insufficiency were observed. Conclusion: Patients who received PRED or DEX for 4 weeks showed similar adrenal reserves and infection rates for 8 weeks after abruptly stopping glucocorticoid therapy, suggesting that DEX, which is a better antileukemic drug than PRED, has similar adrenal suppression and recovery rates. Copyright (c) 2012 S. Karger AG, BaselFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP