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PURPOSE OF REVIEW: Pediatric low-grade gliomas (pLGGs) often result in significant long-term morbidities despite high overall survival rates. This review aims to consolidate the current understanding of pLGG biology and molecular features and provide an overview of current and emerging treatment strategies. RECENT FINDINGS: Surgical resection remains a primary treatment modality, supplemented by chemotherapy and radiotherapy in specific cases. However, recent advances have elucidated the molecular underpinnings of pLGGs, revealing key genetic abnormalities such as BRAF fusions and mutations and the involvement of the RAS/MAPK and mTOR pathways. Novel targeted therapies, including MEK, BRAF and pan-RAF inhibitors, have shown promise in clinical trials, demonstrating significant efficacy and manageable toxicity. Understanding of pLGGs has significantly improved, leading to more personalized treatment approaches. Targeted therapies have emerged as effective alternatives, potentially reducing long-term toxicities. Future research should focus on optimizing therapy sequences, understanding long-term impacts, and ensuring global accessibility to advanced treatments.
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BACKGROUND: Pulmonary Langerhans cell histiocytosis (pLCH) is a rare disease, mostly a component of multisystemic LCH. We aimed to investigate the clinical features and treatment results in children with pLCH. METHODS: We retrospectively reviewed the clinical, radiological, and treatment data of 37 patients with pLCH, diagnosed from 1974 to 2022. RESULTS: 10% (n=37) of 367 patients with LCH had lung involvement. The median age was 1.8 years (range: 0.4 & 17.7) with a male-to-female ratio of 2.3. At admission 29.7% (n=11) presented with respiratory symptoms. Imaging showed a spectrum from nodular opacities to multiple cysts. All but one patient had multisystem disease. Twenty-nine received vinblastine-containing therapy. Ten-year event-free (EFS) and overall survival (OS) rates were 47.8% and 63.3%, respectively. In children younger and older than two years of age, the 10-year EFS was 53.3% vs. 40.2% and the 10-year OS was 58.7% vs. 68.8%, respectively. In children with and without risk organ involvement, 10-year EFS was 51.9% vs. 46.3% and 10-year OS was 51.9% vs. 73.7%. CONCLUSIONS: Lung and multisystem involvement are significant concerns in LCH, highlighting the need for careful management to reduce morbidity and mortality.
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Histiocitosis de Células de Langerhans , Enfermedades Pulmonares , Humanos , Histiocitosis de Células de Langerhans/complicaciones , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Histiocitosis de Células de Langerhans/diagnóstico , Masculino , Femenino , Estudios Retrospectivos , Preescolar , Lactante , Niño , Adolescente , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/tratamiento farmacológico , Enfermedades Pulmonares/diagnóstico , Tasa de Supervivencia/tendenciasRESUMEN
INTODUCTION: Diffuse leptomeningeal glioneuronal tumors (DLGNTs) pose a rare and challenging entity within pediatric central nervous system neoplasms. Despite their rarity, DLGNTs exhibit complex clinical presentations and unique molecular characteristics, necessitating a deeper understanding of their diagnostic and therapeutic nuances. METHODS: This review synthesizes contemporary literature on DLGNT, encompassing epidemiology, clinical manifestations, pathological features, treatment strategies, prognostic markers, and future research directions. To compile the existing body of knowledge on DLGNT, a comprehensive search of relevant databases was conducted. RESULTS: DLGNT primarily affects pediatric populations but can manifest across all age groups. Its diagnosis is confounded by nonspecific clinical presentations and overlapping radiological features with other CNS neoplasms. Magnetic resonance imaging (MRI) serves as a cornerstone for DLGNT diagnosis, revealing characteristic leptomeningeal enhancement and intraparenchymal involvement. Histologically, DLGNT presents with low to moderate cellularity and exhibits molecular alterations in the MAPK/ERK signalling pathway. Optimal management of DLGNT necessitates a multidisciplinary approach encompassing surgical resection, chemotherapy, radiotherapy, and emerging targeted therapies directed against specific genetic alterations. Prognostication remains challenging, with factors such as age at diagnosis, histological subtypes, and genetic alterations influencing disease progression and treatment response. Long-term survival data are limited, underscoring the need for collaborative research efforts. CONCLUSION: Advancements in molecular profiling, targeted therapies, and international collaborations hold promise for improving DLGNT outcomes. Harnessing the collective expertise of clinicians, researchers, and patient advocates, can advance the field of DLGNT research and optimize patient care paradigms.
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Neoplasias Meníngeas , Humanos , Neoplasias Meníngeas/terapia , Neoplasias Meníngeas/patología , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/genética , NiñoRESUMEN
PURPOSE: To determine long-term outcomes of a cohort of children with germinoma treated with chemotherapy and radiation therapy without primary tumor boost even in the absence of complete response to chemotherapy METHODS: This retrospective study analyzed the outcome of patients with germinoma consecutively diagnosed and treated at a tertiary care center from January 2000 to December 2021. MRIs were reviewed by two radiologists, blinded to patient data. Tumor location at diagnosis, tumor response to chemotherapy and at completion of radiation therapy and site of relapse were assessed. Tumor response was assessed radiologically by determining the tumor size and response on diffusion-weighted imaging, in addition to biochemical, cytological parameters and neurological status. RESULTS: Of 46 pediatric germinoma patients, 29 children (14 male; median age 12.8 years) received no primary tumor boost. Median follow-up was 63 months (range 9-187 months). Twenty-five children had localized disease and tumor location was suprasellar (n = 11), pineal (n = 10), bifocal (n = 3) and basal ganglia (n = 1) while 4 children had metastatic disease at presentation. All patients completed multi-agent chemotherapy followed by either ventricular irradiation (VI) (23.4 Gy) (n = 23), whole brain (WBI) (23.4 Gy) (n = 5) or craniospinal radiation (CSI) (23.4 Gy) (n = 1). Two children, who had localized disease at presentation and received VI after chemotherapy, relapsed 9 months and 32 months after completion of treatment respectively. No patient had a local relapse. Location of relapse was distant, outside (n = 1) and out- and inside (n = 1) the irradiation field. Five-year progression free survival (PFS) was 91% and overall survival (OS) was 100%. CONCLUSIONS: In this case series, excellent 5-year PFS and OS rates were achieved with chemotherapy followed by radiation therapy of 23.4 Gy delivered without primary tumor boost. No local relapse was observed despite omitting primary tumor boost in patients with localized and metastatic germinoma.
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Neoplasias Encefálicas , Germinoma , Niño , Humanos , Masculino , Estudios Retrospectivos , Neoplasias Encefálicas/terapia , Neoplasias Encefálicas/tratamiento farmacológico , Recurrencia Local de Neoplasia/patología , Germinoma/terapia , Germinoma/tratamiento farmacológico , Encéfalo/patología , Dosificación Radioterapéutica , Estudios de SeguimientoRESUMEN
Ifosfamide is an important chemotherapeutic agent used in the therapeutic protocols of many malignant tumors. Central nervous system toxicity of ifosfamide manifests with encephalopathy in 10% to 30% of patients treated with ifosfamide. Thiamine and methylene blue have been reported beneficial in the treatment and prevention of ifosfamide-induced encephalopathy (IIE). We describe an episode of encephalopathy developed at the third cycle of ifosfamide treatment in a child with Ewing sarcoma. With the administration of thiamin, the encephalopathy resolved and no episode was noted during subsequent courses of ifosfamide. Previous use of cisplatin, concomitant use of opioids, low levels of serum albumin and hemoglobin, and elevated levels of serum creatinine are potential risk factors for IIE. The current case illustrates the possibility of IIE even in the absence of such additional risk factors, treated successfully with thiamin and draws attention to the need for close neurological monitorization of patients treated with ifosfamide.
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Encefalopatías , Ifosfamida , Antineoplásicos Alquilantes/efectos adversos , Encefalopatías/inducido químicamente , Encefalopatías/tratamiento farmacológico , Niño , Cisplatino/efectos adversos , Creatinina , Humanos , Ifosfamida/efectos adversos , Azul de Metileno/uso terapéutico , Albúmina Sérica , Tiamina/uso terapéuticoAsunto(s)
Enfermedad de Castleman , Ectima Contagioso , Factores de Intercambio de Guanina Nucleótido , Virus del Orf , Enfermedad de Castleman/complicaciones , Enfermedad de Castleman/diagnóstico , Factores de Intercambio de Guanina Nucleótido/deficiencia , Factores de Intercambio de Guanina Nucleótido/genética , HumanosRESUMEN
Relapsed or refractory central nervous system (CNS) tumors still have poor prognosis, and, therefore, new treatment options are required. We retrospectively researched treatment results of patients with CNS tumors treated with nimotuzumab from 2010 to 2015. The study included nine patients with the diffuse intrinsic pontine glioma; eight with medulloblastoma; three each with anaplastic ependymoma, glioblastoma multiforme, and central nervous system primitive neuroectodermal tumor (CNS PNET); two patients with gliomatosis cerebri; and one patient each with other tumor types, including atypical teratoid rhabdoid tumor, thalamic astrocytoma, low-grade glial tumor, high-grade glial tumor, and cribriform neuroepithelial tumor. An objective response was observed in 10 of 33 patients with four patients showing a complete response, three a partial response, and three patients had stable disease. The 2-year overall survival (OS) and progression-free survival (PFS) rates were 35 ±9% and 19 ±8%, respectively. Due to the objective response in medulloblastoma, CNS PNET, and anaplastic ependymoma (MED group), survival rates of this group were analyzed. The 2-year OS and PFS for the MED group were 71 ±12% and 30 ±13%, respectively. The treatment was well tolerated. The treatment responses for medulloblastoma, CNS PNET, and anaplastic ependymoma have been promising. Likewise, some patients with relapsed or progressive CNS tumors may benefit through nimotuzumab-containing regimen.
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Anticuerpos Monoclonales Humanizados/administración & dosificación , Antineoplásicos Inmunológicos/administración & dosificación , Neoplasias del Sistema Nervioso Central/tratamiento farmacológico , Adolescente , Anticuerpos Monoclonales Humanizados/efectos adversos , Anticuerpos Monoclonales Humanizados/farmacología , Antineoplásicos Inmunológicos/farmacología , Neoplasias del Sistema Nervioso Central/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Supervivencia sin Progresión , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del TratamientoRESUMEN
The COVID-19 pandemic has disrupted cancer care. An audit at a major Paediatric Oncology Department in Turkey was performed to determine its impact on paediatric cancer care. A comparison was made among the number of daily paediatric cancer patients, diagnostic and treatment procedures. The data for the 'COVID-19 period' (10 March to 31 October 2020) were compared with the corresponding 'prior year control period' (10 March to 31 October 2019). Moreover, presentation delay (duration between first symptoms to healthcare visit) was calculated for new cases. The findings indicate that the mean 34.7 outpatients per day during 'COVID-19 period' was significantly lower than the 'prior year control period' (52.2). There were 17.7 inpatients per day during the 'COVID-19 period' which was significantly lower than 23.8 inpatients per day during the 'prior year control period'. Significant reduction in the daily mean number of patients undergoing chemotherapy, radiotherapy, surgery and imaging studies during the 'COVID-19 period' was also evident. A negative trend in the diagnosis of new paediatric cancers was evident with 128 new cancer cases during the 'COVID-19 period', whereas the corresponding number was 212 for the 'prior year control period'. The presentation delay (median 31 days) remain unchanged during the 'COVID-19 period'. The findings suggest significant damage to paediatric cancer care during the COVID-19 pandemic. Appropriate obligatory actions by oncology societies and policymakers can minimise longer term negative impacts.
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Gastrointestinal tract is the most common extranodal site for childhood non-Hodgkin lymphomas (NHLs). However, primary gastric lymphoma (PGL) is very rare. We report our experience with PGL. Between 1972 and 2019, patients with PGL among 1696 NHL cases were evaluated retrospectively. Patient characteristics, treatments, and survival rates were recorded. We also reviewed the cases reported in literature. There were 16 PGL (11 males, five females) cases with a median age of 10 years. Most frequent complaints, similarly to the literature, were pain and vomiting. Hematemesis/melena and anemia were present in 20% of patients. Most common tumor location was antrum. Histopathological subtypes were Burkitt and non-Burkitt B-cell lymphoma in 43.75% and marginal zone lymphoma (MZL) in 6.25% of cases while mucosa-associated lymphoid tissue (MALT) and low-grade lymphomas constitute 15.3% of cases reported in the literature. In our series, Helicobacter pylori (H. pylori) was analyzed in only the case with MZL and found to be positive. However, H. pylori positivity was reported in 75% of the cases in the literature. H. pylori eradication, chemotherapy, and radiotherapy were applied in one, 14, and five patients. Subtotal gastrectomy with gastroduodenostomy/jejunostomy was performed in three patients. Gastrojejunostomy was done without tumor resection in two patients. Nine patients lived without disease for a median of 59 (12-252) months. Five-year EFS and OS were 69.6% and 64.3%, respectively. PGL constitutes 0.94% of our NHL cases. Interestingly, most of the cases in the literature were from Turkey. While adult PGL is mostly MALT lymphoma, most pediatric cases had high-grade histopathology. Although surgery and radiotherapy were applied earlier, chemotherapy alone is sufficient.
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Infecciones por Helicobacter/complicaciones , Linfoma no Hodgkin/tratamiento farmacológico , Neoplasias Gástricas/tratamiento farmacológico , Adolescente , Niño , Preescolar , Femenino , Gastrectomía , Derivación Gástrica , Infecciones por Helicobacter/patología , Helicobacter pylori/aislamiento & purificación , Humanos , Linfoma de Células B de la Zona Marginal/tratamiento farmacológico , Linfoma de Células B de la Zona Marginal/microbiología , Linfoma de Células B de la Zona Marginal/patología , Linfoma no Hodgkin/mortalidad , Linfoma no Hodgkin/patología , Linfoma no Hodgkin/cirugía , Masculino , Estudios Retrospectivos , Neoplasias Gástricas/congénito , Neoplasias Gástricas/mortalidad , Neoplasias Gástricas/patología , Neoplasias Gástricas/cirugía , Tasa de Supervivencia , TurquíaRESUMEN
Burkitt lymphoma manifesting as an intracardiac mass is a rare entity. This report describes the case of a 10-year-old boy who presented with an intracardiac mass and tumor thrombosis in the anterior mediastinum that proved to be Burkitt lymphoma. The LMB-96 chemotherapy protocol was given and at the end of the treatment there was still residual mass. A biopsy was performed and the pathology revealed thymus tissue. The patient has been in complete remission for 3 months. Burkitt lymphoma has a short doubling time and an intracardiac lesion can become life threatening. Early recognition and prompt treatment are crucial in achieving optimal outcomes.
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Linfoma de Burkitt/diagnóstico , Neoplasias Cardíacas/patología , Mediastino/patología , Trombosis/etiología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biopsia , Niño , Neoplasias Cardíacas/diagnóstico , Humanos , Masculino , Neoplasias/complicaciones , Inducción de Remisión , Timo/patologíaRESUMEN
Yaman-Bajin I, Aytaç S, Kuskonmaz B, Uçkan-Çetinkaya D, Ünal S, Gümrük F, Çetin M. Infant lymphoblastic leukemia: a single centers 10 year experience. Turk J Pediatr 2019; 61: 325-329. Infant acute lymphoblastic leukemia (ALL) is a rare disease and consists of 4-5% of all childhood ALL. Despite improved survival rates in childhood ALL, infants with ALL have a worse prognosis. We aimed to evaluate the clinical features and treatment outcomes of our patients diagnosed with infant ALL at Hacettepe University, Pediatric Hematology Department between 1 January 2008 and 1 January 2018 retrospectively. There were 13 patients with a median age of 7 months. Three of the patients were triplets born from a spontaneous monozygotic triplet pregnancy. Relapse were observed in 4 patients. Hematopoietic stem cell transplantation (HSCT) was performed for five patients. Relapse after HSCT was observed in 3 patients. After a median follow-up period of 18 months, 6 patients (45%) (3 after HSCT and 3 who only received chemotherapy) were alive and in remission. Prognosis of infant ALL is poor in that only half of the patients survive. Our results suggest that bone marrow transplantation seems to be a good and efficient choice of treatment for selected patients. However, there is still a big issue to decide which patient should undergo transplantation and more studies are needed to reevaluate the eligibility criteria for HSCT in this group of patients.
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Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Femenino , Trasplante de Células Madre Hematopoyéticas/estadística & datos numéricos , Hospitales Universitarios , Humanos , Lactante , Recién Nacido , Masculino , Recurrencia , Inducción de Remisión , Estudios Retrospectivos , Trillizos , Turquía/epidemiologíaRESUMEN
Özyörük D, Kocayozgat A, Yaman-Bajin I, Çetindag F, Oguz- Erdogan AS, Günes A. A synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome. Turk J Pediatr 2019; 61: 456-459. Klinefelter syndrome (KS) is characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. It is associated with an increased risk of certain malignancies, including leukemia, breast cancer and extragonadal germ cell tumor such as mediastinal germ cell tumors and rarely intracranial germ cell tumors. It is possible that the increased risk of developing certain cancers can be attributed to a direct effect of the chromosomal abnormality or the combined action of the abnormal chromosomes and hormonal imbalances. Here we describe a synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome. The synchronous occurrence of the dual tumors in this patient with Klinefelter`s syndrome might be resulted from the migration defect during embriyogenesis due to underlying genetic disease or it is a coincidental condition, yet there has been no case reported in the literature, so far.
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Neoplasias Encefálicas/complicaciones , Quiste Epidérmico/complicaciones , Germinoma/complicaciones , Síndrome de Klinefelter/complicaciones , Enfermedades Testiculares/complicaciones , Adolescente , Biopsia , Encéfalo/diagnóstico por imagen , Neoplasias Encefálicas/diagnóstico , Diagnóstico Diferencial , Quiste Epidérmico/diagnóstico , Germinoma/diagnóstico , Humanos , Síndrome de Klinefelter/diagnóstico , Imagen por Resonancia Magnética , Masculino , Enfermedades Testiculares/diagnósticoRESUMEN
Yaman Bajin I, Demir H, Saltik Temizel IN, Özen H, Yüce A. Long term follow-up of children with chronic hepatitis B: a single center experience. Turk J Pediatr 2019; 61: 846-851. Chronic Hepatitis B infection is an important clinical issue because of the associated risk of developing cirrhosis and hepatocellular carcinoma. Especially in children, there is no consensus about the optimal treatment. Clinical features and long-term outcomes of 165 children diagnosed with chronic hepatitis B at our institution between January 1993 and June 2012 were analysed retrospectively. Patients were divided into four groups according to their treatment protocols. The first group received Interferon (IFN) only, the second group started lamivudine (LMV) first then IFN+LMV combined and then continued with LMV only, the third group started with IFN+LMV combined then continued with LMV only and the fourth group received LMV only. After a median follow-up period of 7 years (1-19 years) the highest e-seroconversion (the loss of HBeAg followed by gain of anti- HBe antibody) rate, biochemical and virological response was observed with combined (IFN+LMV) treatment regimens. Patients with higher ALT levels were better treatment responders (p: 0.003). Identification of the patients who need to be treated in order to determine the most effective therapy with optimal treatment duration is important to reduce the risk of developing future complications like cirrhosis and hepatocellular carcinoma.
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Antivirales/uso terapéutico , Hepatitis B Crónica/tratamiento farmacológico , Interferones/uso terapéutico , Lamivudine/uso terapéutico , Adolescente , Alanina Transaminasa/sangre , Niño , Preescolar , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Anticuerpos contra la Hepatitis B/sangre , Antígenos e de la Hepatitis B/sangre , Hepatitis B Crónica/inmunología , Humanos , Lactante , Masculino , Estudios Retrospectivos , SeroconversiónRESUMEN
Osteosarcoma is the most common primary malignant tumor of the bone. The most common sites of osteosarcoma in children are the metaphysis of long bones, especially the distal femur, proximal tibia, and proximal humerus. It occurs very rarely in flat bones. Here we report a 14-year-old adolescent boy with primary osteosarcoma of the fifth rib and a review of literature.
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Neoplasias Óseas/diagnóstico , Osteosarcoma/diagnóstico , Costillas/patología , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Óseas/tratamiento farmacológico , Resultado Fatal , Humanos , Masculino , Osteosarcoma/tratamiento farmacológico , Insuficiencia del TratamientoRESUMEN
With improvements in molecular diagnostic methods, report of Human bocavirus (HBoV) as an etiologic agent in many studies on viral respiratory and gastrointestinal infections has been increasing. Two pediatric patients who presented with secondary hemophagocytic lymphohistiocytosis were examined for etiologic causes, including viruses. Whole bacterial and fungal cultures and viral serological studies were negative. Viral polymerase chain reaction of nasopharyngeal secretions showed HBoV. One was successfully treated with intravenous immunoglobulins, whereas the other died with multiorgan failure. Here we report 2 pediatric patients with secondary hemophagocytic lymphohistiocytosis and detection of HBoV as the sole agent, predicting an association.
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Bocavirus Humano , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/etiología , Infecciones por Parvoviridae/complicaciones , Biomarcadores , Médula Ósea/patología , Preescolar , Exantema/patología , Resultado Fatal , Femenino , Bocavirus Humano/genética , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Lactante , Linfohistiocitosis Hemofagocítica/tratamiento farmacológico , Masculino , Infecciones por Parvoviridae/diagnóstico , Infecciones por Parvoviridae/virología , Reacción en Cadena de la Polimerasa , Resultado del TratamientoRESUMEN
Secretory breast carcinoma (SBC) is a rare type of breast neoplasia that was originally described in children. SBC is an indolent breast tumor with good clinical outcome and rare systemic involvement. Since, majority of studies concerning pediatric SBC have been case reports, it has been difficult to clearly elucidate the characteristics and optimal treatment strategies for SBC in children. Although treatment recommendations vary, surgical excision is the primary mode of treatment. Also, necessity of axillary and/or sentinel lymph node dissection is another matter of discussion in children. We report a 6-year-old girl who was diagnosed as SBC was reported to discuss the use of mastectomy with sentinel lymph node dissection in the treatment of this rare tumor in children.