RESUMEN
INTRODUCTION: Patients affected by metastatic germ cell tumors may occasionally experience enlargement of masses with concurrent normalization of tumor markers during or after chemotherapy. This phenomenon is described as growing teratoma syndrome (GTS). The aim of the pre sent study is to assess the prevalence of GTS in the pediatric population and its implications in terms of surgical outcome. PATIENTS AND METHODS: The clinical notes of patients diagnosed with stage III and IV malignant germ cell tumors from January 2010 until December 2020 at our Institution were retrospectively reviewed. The prevalence of GTS, treatment strategies, survival, and outcome were analyzed. RESULTS: Thirty-three patients with high-stage malignant germ cell tumors were diagnosed in our institution in the analyzed period. Nine patients (28%) had radiologic evidence of enlargement of persistent masses with normal markers after chemotherapy; these patients were classified as GTS patients. All nine patients underwent resection of metastatic lymph nodes, and six had surgery on visceral metastases. In six patients, radical excision of all metastatic sites was achieved; five patients are alive and in complete remission, while one died because of peri-operative complications. Out of the three patients who could not achieve radical excision of the metastases, two died of progressive disease, and one is alive with progressive disease. CONCLUSIONS: Patients affected by GTS have a risk of progression of chemotherapy-resistant disease and death. Radical surgical excision is essential to achieve disease control and long-term survival.
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Teratoma , Humanos , Teratoma/cirugía , Teratoma/patología , Teratoma/epidemiología , Teratoma/mortalidad , Teratoma/tratamiento farmacológico , Masculino , Adolescente , Niño , Estudios Retrospectivos , Prevalencia , Femenino , Pronóstico , Tasa de Supervivencia , Preescolar , Estudios de Seguimiento , Síndrome , Neoplasias Testiculares/cirugía , Neoplasias Testiculares/patología , Neoplasias Testiculares/epidemiología , Neoplasias Testiculares/mortalidadRESUMEN
INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.
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Enfermedades Pulmonares , Anomalías del Sistema Respiratorio , Humanos , Niño , Enfermedades Pulmonares/congénito , Anomalías del Sistema Respiratorio/cirugía , Neumonectomía/métodos , Pulmón/diagnóstico por imagen , Pulmón/cirugía , Pulmón/anomalías , Italia , Estudios RetrospectivosRESUMEN
BACKGROUND: Thoracic mesenchymal hamartomas are rare benign lesions. Rarely symptomatic, they may compress pulmonary parenchyma, leading to respiratory distress. Although spontaneous regression has been documented, the more common outcome is progressive growth. The treatment of choice is en bloc excision of the involved portion of the chest wall, frequently leading to significant deformity. OBJECTIVE: The aim of our study was to describe percutaneous techniques to treat these lesions. MATERIALS AND METHODS: We collected data of children with thoracic mesenchymal hamartomas who were treated at our institution from 2005 to 2020 using various percutaneous techniques. Techniques included radiofrequency thermoablation, microwave thermoablation (microwave thermoablation) and cryoablation. RESULTS: Five children were treated for chest wall hamartomas; one child showed bilateral localization of the mass. Two children underwent microwave thermoablation, one radiofrequency thermoablation and two cryoablation; one child treated with cryoablation also had radiofrequency thermoablation because mass volume increased after the cryoablation procedure. The median reduction of tumor volume was 69.6% (24.0-96.5%). One child treated with microwave thermoablation showed volumetric increase of the mass and underwent surgical removal of the tumor. No major complication was reported. CONCLUSION: Percutaneous ablation is technically feasible for expert radiologists and might represent a valid and less invasive treatment for chest wall chondroid hamartoma, avoiding skeletal deformities.
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Hamartoma , Pared Torácica , Niño , Humanos , Pared Torácica/diagnóstico por imagen , Pared Torácica/cirugía , Pared Torácica/patología , Tomografía Computarizada por Rayos X , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Microondas , Ondas de Radio , Resultado del TratamientoRESUMEN
OBJECTIVE: To create the first structured surgical report form for NBL with international consensus, to permit standardized documentation of all NBL-related surgical procedures and their outcomes. SUMMARY OF BACKGROUND DATA: NBL, the most common extracranial solid malignant tumor in children, covers a wide spectrum of tumors with significant differences in anatomical localization, organ or vessel involvement, and tumor biology. Complete surgical resection of the primary tumor is an important part of NBL treatment, but maybe hazardous, prone to complications and its role in high-risk disease remains debated. Various surgical guidelines exist within the protocols of the different cooperative groups, although there is no standardized operative report form to document the surgical treatment of NBL. METHODS: After analyzing the treatment protocols of the SIOP Europe International Neuroblastoma Study Group, Children's Oncology Group, and Gesellschaft fuer Paediatrische Onkologie und Haematologie - German Association of Pediatric Oncology and Haematology pediatric cooperative groups, important variables were defined to completely describe surgical biopsy and resection of NBL and their outcomes. All variables were discussed within the Surgical Committees of SIOP Europe International Neuroblastoma Study Group, Children's Oncology Group, and Gesellschaft fuer Paediatrische Onkologie und Haematologie - German Association of Pediatric Oncology and Haematology. Thereafter, joint meetings were organized to obtain intercontinental consensus. RESULTS: The "International Neuroblastoma Surgical Report Form" provides a structured reporting tool for all NBL surgery, in every anatomical region, documenting all Image Defined Risk Factors and structures involved, with obligatory reporting of intraoperative and 30 day-postoperative complications. CONCLUSION: The International Neuroblastoma Surgical Report Form is the first universal form for the structured and uniform reporting of NBL-related surgical procedures and their outcomes, aiming to facilitate the postoperative communication, treatment planning and analysis of surgical treatment of NBL.
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Formularios como Asunto , Neuroblastoma/cirugía , Proyectos de Investigación/normas , Oncología Quirúrgica/normas , Niño , Humanos , Cooperación InternacionalRESUMEN
BACKGROUND: Postoperative hypocalcemia is a frequent complication after thyroidectomy. Hypoparathyroidism may develop as transient (TtHP), with normalization within six months from surgery, or permanent (PtHP) if the patient requires replacement therapy. We analyzed factors associated with the development of postoperative hypoparathyroidism and in detail PtHP following thyroid surgery in a pediatric population. PROCEDURE: A retrospective multicenter study analyzing 326 patients was carried out. We recorded gender, age, tumor size, thyroiditis, extrathyroidal extension, lymph node dissection (central/lateral compartment, unilateral/bilateral), parathyroid autotransplantation, and histology. Additionally, calcium levels were acquired postoperatively. RESULTS: We analyzed pediatric patients ≤18 years who underwent thyroidectomy clustered into age groups (≤15 or > 15). Patients' mean follow-up was 5.8 years (1-11 years). Postoperative hypoparathyroidism occurred in 36 (11.0%): 20 cases (6.13%) developed PtHP. Postoperative hypoparathyroidism was more frequent in younger patients (P = 0.014), in larger tumors (P < 0.001), in case of extrathyroidal extension (P = 0.037), and in central compartment (P = 0.020) and bilateral lymph node dissection (P = 0.030). PtHP was more frequent in older patients (P = 0.014), in case of thyroiditis (P < 0.001), and extrathyroidal extension (P < 0.001). Concerning the first postoperative calcium level measurement, in the postoperative hypoparathyroidism group, we registered a 8.17 mg/dL value with 14% pre/postoperative decrease (ΔCa ), whereas in PtHP patient group calcium level was 7.91 mg/dL with 16.7% ΔCa . CONCLUSIONS: The risk of postoperative hypoparathyroidism is related to younger age, tumor size, central compartment and bilateral lymph node dissection, extrathyroidal extension, and decrease in postoperative calcium levels. The risk of PtHP is related to older age, thyroiditis, extrathyroidal extension, and decrease in postoperative calcium levels.
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Hipocalcemia , Hipoparatiroidismo , Neoplasias de la Tiroides , Anciano , Calcio , Niño , Humanos , Hipocalcemia/epidemiología , Hipocalcemia/etiología , Hipoparatiroidismo/epidemiología , Hipoparatiroidismo/etiología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Factores de Riesgo , Neoplasias de la Tiroides/patología , Tiroidectomía/efectos adversosRESUMEN
Conjoined twins are rare and pose a challenge to radiologists and surgeons. Craniopagus twins, where conjunction involves the cranium, are especially rare. Even in large pediatric centers, radiologists are unlikely to encounter more than one such event in their medical careers. This rarity makes it daunting to select a CT and MRI protocol for these infants. Using the experience of two tertiary pediatric hospitals with six sets of craniopagus twins, this multidisciplinary and multimodal integrated imaging approach highlights the key questions that need addressing in the decision-making process for possible surgical intervention.
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Toma de Decisiones Clínicas/métodos , Imagen por Resonancia Magnética/métodos , Cuidados Preoperatorios/métodos , Cráneo/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Gemelos Siameses/cirugía , Hospitales Pediátricos , Humanos , Cráneo/anomalías , Cráneo/cirugía , Centros de Atención TerciariaRESUMEN
BACKGROUND: Extra-appendicular neuroendocrine tumors (NETs) are very rare tumors. While diagnostic and therapeutic guidelines are well established for adults, data on children and adolescents are lacking. PATIENTS AND METHODS: Patients with a diagnosis of extra-appendicular NET registered on the Tumori Rari in Età Pediatrica - Rare Tumors in Pediatric Age (TREP) from 2000 to 2020 were analyzed. Clinical characteristics including patients' presentation, tumor features, treatment, and outcome were reviewed. RESULTS: Twenty-seven patients with extra-appendicular NET registered on TREP with a median age of 173 months. The primary site was the pancreas (12) or bronchi (10) in the majority of cases. Other primary sites included the thymus, Meckel's diverticulum, and liver. Thirteen (48%) of tumors extended beyond the organ of origin: four invaded neighboring organs and/or regional nodes and nine involved distant metastases. The 3-year event-free survival (EFS) for those with localized disease was superior to those with metastatic disease (66.6% 95% CI 5-95% vs 33% 95% CI 5-68%, respectively; P = .005). A complete resection was feasible in 17 patients. The 3-year EFS in these patients was superior to those with no or incomplete resection (R0 vs R1/R2, respectively; P = .007). Overall, 16 children had no evidence of disease at follow-up, and one is alive with disease; five died, and five were lost to follow-up. CONCLUSIONS: Data from our experience demonstrated a wide heterogeneity of presentation and outcome of these tumors. Localized disease and complete surgical resection were the main prognostic factors of good outcome. Other therapies may have a role in prolonging survival in metastatic disease.
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Neoplasias de los Bronquios/diagnóstico , Tumores Neuroendocrinos/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Adolescente , Neoplasias de los Bronquios/epidemiología , Neoplasias de los Bronquios/terapia , Niño , Manejo de la Enfermedad , Femenino , Humanos , Neoplasias Intestinales/diagnóstico , Neoplasias Intestinales/epidemiología , Neoplasias Intestinales/terapia , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/epidemiología , Neoplasias Hepáticas/terapia , Masculino , Tumores Neuroendocrinos/epidemiología , Tumores Neuroendocrinos/terapia , Neoplasias Pancreáticas/epidemiología , Neoplasias Pancreáticas/terapia , Neoplasias del Timo/diagnóstico , Neoplasias del Timo/epidemiología , Neoplasias del Timo/terapiaRESUMEN
PURPOSE: To evaluate clinical features at diagnosis, prognostic factors, and outcomes of malignant sacrococcygeal germ cell tumors (SC-GCTs) in patients enrolled in the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) TCG 2004 protocol. PATIENTS AND METHODS: A prospective analysis was conducted on all consecutive patients diagnosed with malignant SC-GCTs between January 2004 and May 2017. Patients with stage I underwent surgery and subsequent surveillance, the others received pediatric cisplatinum-etoposide-bleomycin (pPEB) regimen and eventual deferred surgery. RESULTS: Of 45 patients, 35 were females. Age at diagnosis ranged from 1 day to 3.6 years (median 1.6 years); 26 were stage IV. Of 38 patients who underwent surgery, pathology revealed yolk sac tumor (YST) in 27 and teratoma + YST/embryonal carcinoma in 11, while seven patients were diagnosed based on imaging and elevated levels of alpha-fetoprotein (AFP). Of six patients approached with surgery, only one relapsed and was rescued with first-line chemotherapy. Overall, 38 out of 45 achieved complete remission, three a partial remission, and four were resistant. Ten out of 41 patients who entered remission later relapsed and nine were rescued with a second-line treatment. We observed a global failure percentage of 31% and a 5-year overall survival (OS) and event-free survival (EFS) of 95% and 69%, respectively. CONCLUSIONS: Chemotherapyis generally effective in malignant SC-GCTs, even though almost one-third of our patients experienced events salvageable with second-line treatment. Most of the relapses occurred within 1 year from diagnosis. A close follow up with serial AFP level monitoring should be done for at least 2 years after diagnosis.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de Células Germinales y Embrionarias/tratamiento farmacológico , Región Sacrococcígea/patología , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Neoplasias de Células Germinales y Embrionarias/patología , Pronóstico , Estudios Prospectivos , Tasa de SupervivenciaRESUMEN
PURPOSE: To clarify the role of primary tumor resection in stage 4S neuroblastoma. METHODS: We investigated a cohort of 172 infants diagnosed with stage 4S neuroblastoma between 1994 and 2013. Of 160 evaluable patients, 62 underwent upfront resection of the primary tumor and 98 did not. RESULTS: Five-year progression-free and overall survival were significantly better in those who had undergone upfront surgery (83.6% vs 64.2% and 96.8% vs 85.7%, respectively). One post-operative death and four non-fatal complications occurred in the resection group. Three patients who had not undergone resection died of chemotherapy-related toxicity. Thirteen patients underwent late surgery to remove a residual tumor, without complications: all but one alive. Outcomes were better in patients diagnosed from 2000 onwards. CONCLUSION: Infants diagnosed with stage 4S neuroblastoma who underwent upfront tumor resection had a better outcome. However, this result cannot be definitely attributed to surgery, since these patients were selected on the basis of their favorable presenting features. Although the question of whether to operate or not at disease onset is still unsolved, this study confirms the importance of obtaining enough adequate tumor tissue to enable histological and biological studies to properly address treatment, to achieve the best possible outcome.
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Neuroblastoma/patología , Neuroblastoma/cirugía , Estudios de Cohortes , Progresión de la Enfermedad , Femenino , Humanos , Lactante , Italia , Masculino , Estadificación de Neoplasias , Resultado del TratamientoRESUMEN
BACKGROUND: Malignant germ cell tumors (GCTs) are a heterogeneous group of rare neoplasms in children. Optimal outcome is achieved with multimodal therapies for patients with both localized and advanced disease, especially after the introduction of platinum-based chemotherapy regimens. In this respect, data on salvage treatment for children with relapsed or platinum-refractory disease are still limited. METHODS: Retrospective analysis of data regarding patients affected by malignant GCTs with platinum-refractory or relapsed disease after first-line treatment according to AIEOP TCGM 2004 protocol was conducted. RESULTS: Twenty-one patients, 15 females and 6 males, were considered for the analysis. All 21 patients received second-line conventional chemotherapy (SLCT), two of these immediately after surgery for local relapse removal. Two patients showed a progression of disease during SLCT and died of disease shortly thereafter, whereas 19 patients were in partial remission (PR) or complete remission (CR) after SLCT. Treatment after SLCT consisted in surgery on residual tumor mass (9/19) followed by high dose of chemotherapy (HDCT) with autologous hematopoietic stem cell support (16/19). The overall survival (OS) and event-free survival of the whole populations are 71% and 66.6%, respectively. Platinum-refractory patients OS is 54.5% compared with 91.5% of the relapsed group. There were no treatment-related deaths. CONCLUSION: SLCT followed or not by HDCT is an effective salvage treatment for children with relapsed/refractory GCTs. However, the role of HDCT following SLCT needs to be further investigated, especially regarding the identification of specific patient subgroups, which can benefit from this more intensive treatment.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Resistencia a Antineoplásicos/efectos de los fármacos , Recurrencia Local de Neoplasia/tratamiento farmacológico , Neoplasias de Células Germinales y Embrionarias/tratamiento farmacológico , Terapia Recuperativa , Adolescente , Carboplatino/administración & dosificación , Niño , Preescolar , Cisplatino/administración & dosificación , Desoxicitidina/administración & dosificación , Desoxicitidina/análogos & derivados , Etopósido/administración & dosificación , Femenino , Estudios de Seguimiento , Humanos , Ifosfamida/administración & dosificación , Lactante , Masculino , Recurrencia Local de Neoplasia/patología , Neoplasias de Células Germinales y Embrionarias/patología , Oxaliplatino/administración & dosificación , Paclitaxel/administración & dosificación , Pronóstico , Inducción de Remisión , Estudios Retrospectivos , Tasa de Supervivencia , GemcitabinaRESUMEN
BACKGROUND: Pheochromocytomas (PCs) are neuroendocrine tumors arising from the chromaffin cells of the adrenal gland, and paragangliomas (PGLs) are their extra-adrenal counterparts arising from ganglia along the sympathetic/parasympathetic chain. Surgery is the cornerstone of treatment. A sporatic or inherited germline mutation is commonly associated. MATERIALS AND METHODS: Among over 1000 patients registered into the Tumori Rari in Età Pediatrica-rare tumors in pediatric age project-from 2000 to 2019, 50 were affected by PC/PGL. All clinical and therapeutic data were evaluated. RESULTS: Twenty-eight patients had PC and 22 had PGL. Age at diagnosis ranged between 5 and 17 years. Thirty-five patients had symptoms related to catecholamine hypersecretion; in 7 of 50 patients, diagnosis was incidental or done during assessment of a familial syndrome. In all cases, conventional imaging was effective to assess the presence of a tumor. In addition, 18 of 38 functional imaging studies were positive (61%). Forty-eight patients were eligible for surgery: a complete resection was more frequently achieved in PC than in PGL (26/28 vs 11/22). All relapses were treated with surgery alone, surgery plus medical treatment, or chemotherapy alone; one PC with metastasis at diagnosis received radiotherapy only. Forty-four patients were in the first, second, or third complete remission (10/50 recurred; 8/10 carried a germline mutation). Five of 50 patients were alive with disease. One patient died of disease. CONCLUSIONS: Surgery can be curative in most tumors but it may not be always effective in removing PGLs. Severe postsurgical sequelae may affect these patients. Genetic tests should always be considered in individuals affected, and genetic counseling should be offered to their families.
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Neoplasias de las Glándulas Suprarrenales , Recurrencia Local de Neoplasia , Paraganglioma , Feocromocitoma , Adolescente , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/terapia , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Italia , Masculino , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/terapia , Paraganglioma/diagnóstico , Paraganglioma/terapia , Feocromocitoma/diagnóstico , Feocromocitoma/terapia , Estudios ProspectivosRESUMEN
BACKGROUND: Solid pseudopapillary pancreatic tumors (SPPT) are an extremely rare entity in pediatric patients. Even if the role of radical surgical resection as primary treatment is well established, data about follow-up after pancreatic resection in children are scant. METHODS: A retrospective review of data from the Italian Pediatric Rare Tumor Registry (TREP) was performed. Short-term (<30 days) and long-term complications of different surgical resections, as well as long-term follow-up were evaluated. RESULTS: From January 2000 to present, 43 patients (male:female = 8:35) were enrolled. The median age at diagnosis was 13.2 years (range, 7-18). Nine children had an incidental diagnosis, whereas 26 complained of abdominal pain and 4 of palpable mass. Tumors arose either from the head of pancreas (n = 14) or from body/tail (n = 29): only one patient presented with metastatic disease. Resection was complete in all patients (cephalic duodenopancreatectomy vs distal resection). At follow-up (median, 8.4 years; range, 0-17 years), one recurrence occurred in a patient with intraoperative rupture. All patients are alive. Three pancreatic fistulas occurred in the body/tail group, whereas four complications occurred in the head group (one ileal ischemia, two stenosis of the pancreatic duct, and one chylous fistula). CONCLUSION: Surgery is the best therapeutic option for these tumors; hence, complete resection is mandatory. Extensive resections, including cephalic duodenopancreatectomy, are safe when performed in specialized centers. Long-term follow-up should be aimed to detect tumor recurrence and to evaluate residual pancreatic function.
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Carcinoma Papilar/cirugía , Recurrencia Local de Neoplasia/cirugía , Pancreatectomía/métodos , Neoplasias Pancreáticas/cirugía , Complicaciones Posoperatorias , Adolescente , Carcinoma Papilar/patología , Niño , Femenino , Estudios de Seguimiento , Humanos , Italia , Masculino , Recurrencia Local de Neoplasia/patología , Neoplasias Pancreáticas/patología , Sistema de Registros , Estudios Retrospectivos , Resultado del TratamientoAsunto(s)
Ataxia Telangiectasia , Infecciones por Virus de Epstein-Barr , Herpesvirus Humano 4 , Tumor de Músculo Liso , Humanos , Femenino , Ataxia Telangiectasia/complicaciones , Ataxia Telangiectasia/patología , Tumor de Músculo Liso/patología , Tumor de Músculo Liso/virología , Infecciones por Virus de Epstein-Barr/complicaciones , Infecciones por Virus de Epstein-Barr/patología , Herpesvirus Humano 4/aislamiento & purificaciónRESUMEN
Switched and IgM memory B cells execute different and noninterchangeable functions. We studied memory B cells in children of different ages, in peripheral blood and spleen and compared them with those of children born asplenic or unable to build germinal centers. We show that, whereas switched memory B cells are mostly generated in the germinal centers at all ages, IgM memory B cells can be distinct in three types with different developmental history. Innate IgM memory B cells, the largest pool in infants, are generated in the spleen by a germinal center-independent mechanism. With age, if the spleen is present and germinal centers are functional, innate IgM memory B cells are remodelled and accumulate somatic mutations. The third type of IgM memory B cell is a by-product of the germinal center reaction. Our data suggest that the B-cell memory developmental program is implemented during the first 5-6 years of life.
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Envejecimiento/inmunología , Linfocitos B/inmunología , Centro Germinal/inmunología , Memoria Inmunológica , Bazo/inmunología , Adolescente , Células Cultivadas , Niño , Preescolar , Femenino , Humanos , Inmunidad Innata , Cambio de Clase de Inmunoglobulina , Inmunoglobulina M/metabolismo , Lactante , Masculino , Especificidad de Órganos , Linfocitos T/inmunologíaRESUMEN
BACKGROUND: Diagnosis of adrenocortical neoplasms (ACN), in pediatric age, is based on Wieneke criteria. The p57, a cyclin-dependent kinase inhibitor, acts to negatively regulate cell proliferation and is frequently found dysregulated in cancer. The identification of loss of heterozygosity (LOH) of 11p15, containing the p57 gene, could be a tool for differential diagnosis of benign and malignant ACN. METHODS: Immunohistochemistry with anti-p57 and microsatellite markers analysis of 11p15 region to value LOH were made in both ACN and surrounded normal adrenal cortex. RESULTS: Nine ACN, two clinically benign, two uncertain, and five malignant, were diagnosed. Positive p57 cells were evident in normal adrenal cortex and in one histologically benign ACN. A low/absent expression of p57 was documented in eight ACN independently from the classification on the basis of pathological and clinical criteria. Microsatellite marker analysis confirmed the LOH of 11p15 region in the same ACN. CONCLUSION: LOH of 11p15 has a high prognostic value suggesting the p57 gene is important in ACN pathogenesis. Immunohistochemistry for p57 is a simple and cheap tool that can be used to quickly identify LOH of 11p15 in ACN.
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Neoplasias de la Corteza Suprarrenal/diagnóstico , Neoplasias de la Corteza Suprarrenal/genética , Impresión Genómica , Neoplasias Renales/diagnóstico , Neoplasias Renales/genética , Pérdida de Heterocigocidad , Proliferación Celular , Preescolar , Cromosomas Humanos Par 11 , Diagnóstico Diferencial , Femenino , Regulación de la Expresión Génica , Humanos , Inmunohistoquímica , Lactante , Recién Nacido , Masculino , Repeticiones de MicrosatéliteRESUMEN
BACKGROUND: Peripheral neuroblastic tumors are the most common extracranial solid neoplasms in children. Early and adequate tissue sampling may speed up the diagnostic process and ensure a prompt start of optimal treatment whenever needed. Different biopsy techniques have been described. The purpose of this multi-center study is to evaluate the accuracy and safety of the various examined techniques and to determine whether a preferential procedure exists. METHODS: All children who underwent a biopsy, from January 2010 to December 2014, as a result of being diagnosed with a peripheral neuroblastic tumor, were retrospectively reviewed. Data collected included patients' demographics, clinical presentation, intraoperative technical details, postoperative parameters, complications, and histology reports. The Mann-Whitney U and Fisher's exact tests were used for statistical analysis. RESULTS: The cohort included 100 patients, 32 of whom underwent an incisional biopsy (performed through open or minimally invasive access) (Group A), and the remaining 68 underwent multiple needle-core biopsies (either imaging-guided or laparoscopy/thoracoscopy-assisted) (Group B). Comparing the two groups revealed that Group A patients had a higher rate of complications, a greater need for postoperative analgesia, and required red blood cell transfusion more often. Overall adequacy rate was 94%, without significant differences between the two groups (100% vs. 91.2% for Group A and Group B, respectively, P = 0.0933). CONCLUSIONS: Both incision and needle-core biopsying methods provided sub-optimal to optimal sampling adequacy rates in children affected by peripheral neuroblastic tumors. However, the former method was associated with a higher risk of both intraoperative and postoperative complications compared with the latter.
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Biopsia con Aguja/métodos , Biopsia Guiada por Imagen/métodos , Laparoscopía/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Tumores Neuroectodérmicos Periféricos Primitivos/diagnóstico , Toracoscopía/métodos , Adolescente , Biopsia con Aguja/efectos adversos , Niño , Preescolar , Femenino , Humanos , Biopsia Guiada por Imagen/efectos adversos , Lactante , Recién Nacido , Complicaciones Intraoperatorias/epidemiología , Italia/epidemiología , Masculino , Procedimientos Quirúrgicos Mínimamente Invasivos/efectos adversos , Complicaciones Posoperatorias/epidemiología , Estudios RetrospectivosRESUMEN
BACKGROUND: Gastrointestinal (GI) carcinomas are very rare in the pediatric and adolescent age range. We report the clinical features, treatment, and outcome of a series of children and adolescents with GI carcinoma prospectively registered in the Italian Tumori Rari in Età Pediatrica (TREP) project. METHODS: The TREP project developed diagnostic and therapeutic guidelines based on recommendations currently in use for adults. Clinical data were centrally registered and reviewed. RESULTS: Fifteen patients were registered over the years 2000-2016. Most of the tumors were colorectal carcinomas (12 cases). All but one patient had advanced-stage disease (American Joint Committee on Cancer stages III-IV), and the majority of patients had aggressive histological subtypes, i.e. poorly differentiated (G3) (five patients), mucinous (four patients), and signet ring (two patients) adenocarcinomas. Surgery was performed in 13 of 15 patients, and was radical in nine of 13 patients. Only one patient received postoperative radiotherapy. All patients received chemotherapy, with the addition of bevacizumab in two cases. Nine patients were still alive at the time of the present report, but two of them had only just completed their treatment program and one patient is still on treatment. Six patients died due to disease progression. CONCLUSIONS: This prospective report on pediatric GI tract carcinomas confirms the rarity and biological aggressiveness of these diseases in pediatric and adolescent age. Further prospective studies are needed to explore the distinct biology of tumor in this age group in order to find new therapeutic targeted agents.
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Neoplasias Gastrointestinales/diagnóstico , Neoplasias Gastrointestinales/terapia , Adolescente , Niño , Femenino , Neoplasias Gastrointestinales/mortalidad , Neoplasias Gastrointestinales/patología , Humanos , Masculino , Estudios ProspectivosRESUMEN
BACKGROUND: Primary mediastinal germ cell tumors (GCTs) are rare in children and still represent a challenge for both adult and pediatric oncologists because of their worse outcome compared to their gonadal counterpart. PROCEDURE: Prospectively collected data concerning patients enrolled in the Italian Association of Pediatric Haematology and Oncology study on malignant GCTs (AIEOP TCGM 2004) protocol for the treatment of GCTs were analyzed. Patients with malignant mediastinal primary GCTs were included in this study. Data regarding patients with newly diagnosed mediastinal teratoma were also collected. RESULTS: From 2005 to 2013, 20 children diagnosed with mediastinal GCTs were registered in AIEOP TCGM 2004 protocol. With a median follow-up of 89 months (range 35-123), the overall survival (OS) and event free survival (EFS) rates were 100% for teratoma and 90% for malignant GCTs. CONCLUSIONS: We confirm the favorable outcome of children affected by mediastinal teratoma and malignant GCTs. For malignant tumors, further studies on the clinical characteristics and genetic signatures on tumor samples might be necessary to better understand differences observed in high-risk patients and to assist the development of more effective treatment for this subgroup.
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Neoplasias del Mediastino , Teratoma , Adolescente , Preescolar , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Italia/epidemiología , Masculino , Neoplasias del Mediastino/mortalidad , Neoplasias del Mediastino/terapia , Estudios Prospectivos , Tasa de Supervivencia , Teratoma/mortalidad , Teratoma/terapiaRESUMEN
BACKGROUND: The use of central venous catheter (CVC) is essential in the management of chronically ill children. Thrombocytopenia is a common hematological finding in these patients, with an increased risk of bleeding during the insertion of CVC. No clear guidelines are reported regarding the CVC positioning in patients with disorders of hemostasis, and prophylactic platelet (PLT) transfusions are still controversial. Aim of this study was to report the bleeding risk in pediatric patients with thrombocytopenia who underwent positioning of CVC. METHODS: A retrospective single-center study of all CVCs surgically inserted over a 2-year period (April 2011 - April 2013) at our institution was performed. Age, gender, diagnosis, type of CVC, hematological values (hemoglobin and PLT count, prothrombin international normalized ratio, active partial thromboplastin time) and post-operative bleeding complications were compared between patients with PLT count below (group A) and above 50×109/L (group B). RESULTS: Seventy-two CVC procedures were performed in 67 patients, with a median age of 45 months. Of these, 25 (35%) catheters were positioned in 25 patients included in group A and the remaining 47 (65%) in 42 patients in group B. All twenty-five cases in group A received a prophylactic PLT transfusion prior to the procedure. Bleeding complications were reported in only two cases in group A (8%). CONCLUSIONS: CVC placement in pediatric patients with thrombocytopenia can be safely performed. We believe a randomized multicenter study could be necessary to determine the benefit of PLT transfusions in children with a PLT count below the recommended level of 50×109/L.
Asunto(s)
Cateterismo Venoso Central/métodos , Catéteres Venosos Centrales , Hemorragia/epidemiología , Trombocitopenia/fisiopatología , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Transfusión de Plaquetas , Estudios Retrospectivos , Trombocitopenia/complicacionesRESUMEN
BACKGROUND: Local control is always considered in metastatic neuroblastoma (NBL). The aim of this study is to evaluate the impact of radical surgery on survival in children over 1 year of age. METHODS: Fifty-eight patients older than 1 year of age with metastatic NBL were treated with conventional plus high-dose chemotherapy with or without addition of local radiotherapy (RT, 21Gy). Surgery was classified as radical surgery (complete resection and gross total resection) or non-radical surgery. The Kaplan-Meier method and the Cox proportional hazard model were used to calculate the probability of progression free and overall survival (PFS and OS) and for multivariate analysis. RESULTS: The 5-year PFS and OS for patients with radical surgery were 26% (95% CI 14-40%) and 38% (95% CI 23-53%) respectively, while the PFS and OS for patients without radical surgery were 33% (95% CI 10-59%) and 31% (95% CI 10-55%) (respectively, P 0.85 and P 0.42). The 5-year PFS and OS for patients who received RT were 36% (95% CI 19-53%) and 46% (95% CI 26-64%) respectively, while the 5-year PFS and OS for patients who did not receive RT were 22% (95% CI 9-38%) and 27% (95% CI 13-42%) respectively (P 0.02 for PFS). Multivariate analysis confirmed the role of well-known prognostic factors, such as the presence of MYCN amplification, age and response before high-dose chemotherapy. CONCLUSIONS: Our data suggest that the degree of resection does not influence survival in metastatic NBL patients treated with high-dose chemotherapy; local RT contributes to local disease control.