Journal of Pediatric Hematology/Oncology最新文献

{"title":"Safety and Tolerability of Interval Compressed Chemotherapy Schedule in Children Receiving Treatment for Ewing Sarcoma: A Real-world Experience From India.","authors":"Somdipa Pal, Yamini Krishnan, Krishnan V Parameswaran, Gazel Sainulabdin","doi":"10.1097/MPH.0000000000002994","DOIUrl":"10.1097/MPH.0000000000002994","url":null,"abstract":"<p><strong>Background and aims: </strong>Chemotherapy with alternating cycles of vincristine-doxorubicin-cyclophosphamide and ifosfamide-etoposide, along with primary tumor treatment with surgery or radiotherapy or both, constitute the usual treatment of Ewing sarcoma. The AEWS0031 study demonstrated survival benefits after interval-compressed chemotherapy without significant toxicity. The aim of this study was to assess the tolerability of dose-intensified chemotherapy in developing countries like India.</p><p><strong>Methods: </strong>This was a retrospective analysis of children younger than 18 years of age with newly diagnosed Ewing sarcoma who came for treatment from December 2017 to December 2022. Children received vincristine (2 mg/m 2 ), doxorubicin (75 mg/m 2 ), and cyclophosphamide (1.2 g/m 2 ) alternating with ifosfamide (9 g/m 2 ), etoposide (500 mg/m 2 ) for 17 cycles, with filgrastim (5 µg/kg; maximum 300 µg) between cycles. Primary tumor treatment was provided with surgery or radiotherapy or both. Local treatment was given between weeks 12 to 16. Toxicity was assessed using the Common Terminology Criteria for Adverse Events (CTCAE) Version 3.0. Radiologic response assessment was carried out with restaging CT or MRI scans after 6 to 8 cycles of chemotherapy in nonmetastatic and metastatic settings, respectively.</p><p><strong>Results: </strong>Thirty-one children were enrolled. Twenty-three children received all 17 cycles of chemotherapy. The median cycle interval was 18 days and 41% of children received chemotherapy at the 2-week interval. Grade 4 febrile neutropenia was observed in 32% of cycles but no treatment-related mortality was reported. Anemia and thrombocytopenia requiring transfusion support were recorded in 28 (5.6%) and 69 cycles (13.9%) of chemotherapy, respectively. There were 2 events of grade 4 cardiac toxicities in the form of cardiomyopathy and arrhythmia requiring intensive care management. After surgery, good necrosis was achieved in 61% of cases. Three children had a relapse with an event-free survival (EFS) of 87%.</p><p><strong>Conclusion: </strong>Intensified chemotherapy administered every 2 weeks intervals in Ewing sarcoma, is tolerable with adequate supportive care in resource-constrained settings.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e107-e110"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Etiology of Isolated Macrocytosis: Adenosine Kinase Deficiency With a Novel Mutation.","authors":"Ayşe Öz, Ayşe Mavi Özdemir, Serdar Ceylaner, Sultan Aydin","doi":"10.1097/MPH.0000000000002993","DOIUrl":"10.1097/MPH.0000000000002993","url":null,"abstract":"<p><p>Adenosine kinase (ADK) deficiency is an autosomal recessive disorder characterized by psychomotor developmental delay, epilepsy, dysmorphic features, and liver disease. It is a rare inborn error of methionine and adenosine metabolism. The diagnosis is based on clinical findings, laboratory findings, and molecular analysis of the ADK gene. A novel homozygous mutation NM_006721.4 c.515A>C (p.Asn172Thr) in the ADK gene associated with hypermethioninemia due to ADK deficiency was detected by whole-exome sequencing in a 7-year-old girl who had reticulocytosis, hyperbilirubinemia, elevated mean corpuscular volume, and without mental-motor developmental delay. ADK deficiency as a metabolic disease should be considered in the differential diagnosis of patients with isolated macrocytosis, even without neurologic delay.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e96-e98"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.","authors":"Zhi Wan, Xue Tang, Ju Gao","doi":"10.1097/MPH.0000000000002996","DOIUrl":"10.1097/MPH.0000000000002996","url":null,"abstract":"<p><p>Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy. This case report suggests that children with BRAFN486_T491delinsK mutation might differ from adult counterparts in terms of clinical behavior, and conventional chemotherapy might still be an effective therapy.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e111-e113"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Neonate Presenting With Large Abdominal Mass: A Rare Case of Congenital Leukemia.","authors":"Bablu K Gaur, Chirag Varshney, Rupa R Singh, Prashansa Soneja","doi":"10.1097/MPH.0000000000002991","DOIUrl":"10.1097/MPH.0000000000002991","url":null,"abstract":"<p><p>Leukemia symptoms occurring in the first 4 weeks of infancy are known as congenital leukemia. We present a case of congenital leukemia in a full-term neonate manifesting at birth with a grossly distended abdomen due to a large abdominal mass. Ultrasonography of the abdomen showed a large abdominal mass originating from the liver. Congenital leukemia was suspected based on the very high total leukocyte counts and the presence of blast cells in the peripheral blood smear, which was confirmed by bone marrow aspiration. The bone marrow aspirate smear showed 42% blast cells. Due to overwhelming sepsis, the baby died at the neonatal intensive care unit on day 4 after birth. This report highlights the atypical presentations of congenital leukemia in the neonatal period.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e114-e117"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Second Primary Neoplasms in Pediatric Cancer Survivors With Single Institution Experience From Turkey.","authors":"Hamiyet Hekimci Özdemir, Sena TürkYilmaz, Eda Ataseven, Gülcihan Özek, Serap Aksoylar, Serra Arun Kamer, Mehmet Kantar","doi":"10.1097/MPH.0000000000003001","DOIUrl":"10.1097/MPH.0000000000003001","url":null,"abstract":"<p><strong>Background: </strong>This study aims to establish the characteristics of second primary neoplasms (SPNs) and the long-term follow-up status of a tertiary pediatric oncology center.</p><p><strong>Methods: </strong>Records of 1799 patients followed up in the pediatric oncology division between January 1981 and December 2022 were evaluated retrospectively.</p><p><strong>Results: </strong>Thirty-four (1.9%) cases of secondary neoplasms were identified throughout 42 years. The 5-year and 10-year cumulative incidence was 1% and 4%, respectively. The 3 most common SPNs were thyroid carcinomas (TC), central nervous system (CNS) tumors, and leukemias. The shortest median latent period of SPN detection was 15.5 (2 to 35) months in secondary leukemias, whereas 8 (0 to 17) years in all SPNs. Secondary solid tumors that occurred within the radiation field were TC and meningiomas with a 5.5 (3 to 12) and 16 (6 to 22) years latency period, respectively. Ten patients died; the median death time from the diagnosis of SPN was 10 months in all secondary leukemias and 3.5 months in CNS tumors. The 5-year overall survival was 91%, with a median follow-up time of 13.1 years in all patients with SPN.</p><p><strong>Conclusions: </strong>Considering the SPN-inducing effects of radiotherapy and chemotherapy, patient-protective improvements in treatment protocols are required. Multidisciplinary and long-term follow-up is essential even in adulthood because of the long latency period of some SPN occurring in pediatric cancer survivors.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"99-107"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Life-threatening Lymphatic Malformation With Somatic Activating NRAS Mutation Successfully Treated With Trametinib: A Case Study.","authors":"Lindsay Zumwalt, Haley Schluterman, Anish Ray, Kenneth Heym","doi":"10.1097/MPH.0000000000002990","DOIUrl":"10.1097/MPH.0000000000002990","url":null,"abstract":"<p><p>Kaposiform lymphangiomatosis (KLA) is a rare and aggressive subtype of complex lymphatic anomalies (CLA), characterized by abnormal lymphatic proliferation leading to distinct clinical manifestations. Despite the complexity of this condition, there is no established standard therapy, and treatment options such as sclerotherapy, laser therapy, and surgery remain variably effective and are limited to symptom management rather than curative. Sirolimus, an mTOR pathway inhibitor, has shown promise as a primary therapy, particularly in patients without a driver mutation. However, in some instances, the genetic landscape of KLA has revealed somatic mutations in the RAS-MAPK pathway, most notably the NRAS variant (c.182A>G, p.Q61R), representing a potential therapeutic target. We present a case of a 4-year-old male who presented with pericardial and pleural effusion s without notable coagulopathy found to harbor an NRAS p.Gln61Arg gene mutation, diagnosed through next-generation sequencing (NGS) analysis. Initial therapy with sirolimus failed to provide optimal benefit with persistent pleural effusion. Subsequent treatment with the MEK inhibitor trametinib led to significant clinical improvement, evidenced by the resolution of effusions and removal of the chest tube. In the short term, no significant adverse effect was reported. Our findings underscore the value of genomic profiling in guiding personalized treatment strategies for rare and complex diseases presenting like KLA. This case highlights the potential of targeted therapies, such as trametinib, in improving clinical outcomes for patients with disease with activating NRAS variants, emphasizing the importance of ongoing research to validate and expand these therapeutic approaches in the management of vascular anomalies.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e104-e106"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Borderline Ovarian Tumors: A Retrospective Study of 15 Cases at a Single Institution.","authors":"Bretton Laboret, Marinda G Scrushy, Samir Pandya, Joseph T Murphy","doi":"10.1097/MPH.0000000000002998","DOIUrl":"10.1097/MPH.0000000000002998","url":null,"abstract":"<p><p>Borderline ovarian tumors (BOTs) are rare in pediatric populations and typically follow an indolent clinical course with few reported recurrences. Consequently, guidelines for pediatric BOT management are minimal. We retrospectively examined the management of 15 adolescent patients who underwent BOT resection at our institution over 14 years, with a specific focus on recurrence. Data collected include age, symptoms, tumor characteristics, laboratory markers, surgical management, staging, and follow-up. Fifteen patients with BOTs (median age: 16 y) presented with abdominal pain (67%), or distention (33%). Cancer antigen-125 marker was elevated in 10/13 patients. There were 11 (73%) tumors with serous and 4 (23%) with mucinous histology. Most received fertility-preserving surgery (93%) and disease stage was 1A in 7 (47%), 1B/1C in 5 (33%), and stage 2B or higher in 3 (20%) patients. Additional staging procedures, including peritoneal washings (73%), omentectomy (53%), and peritoneal biopsy (47%), varied in use. Four (27%) patients recurred, with 1 case of benign tumor, 1 BOT, and 2 serous carcinomas. Median patient follow-up was 45 months. BOTs can be successfully treated with fertility-preserving surgery but demonstrate a non-negligible rate of recurrence. We recommend surgical staging and posttreatment surveillance for all patients with BOT.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e77-e82"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Presentation of a Pediatric Burkitt's Lymphoma With Infiltration of the Interatrial Septum.","authors":"Gaser Abdelmohsen, Aliaa Alamri, Ali Algiraigri, Mohamed Elnakeeb, Khadijah Maghrabi","doi":"10.1097/MPH.0000000000002984","DOIUrl":"10.1097/MPH.0000000000002984","url":null,"abstract":"<p><strong>Background: </strong>Burkitt's lymphoma (BL) is the most common subtype of non-Hodgkin lymphoma in children, typically presenting with extranodal masses in areas such as the abdomen, face, and neck. Cardiac involvement in BL is extremely rare, especially in pediatric patients, and has significant implications for diagnosis, management, and prognosis.</p><p><strong>Case presentation: </strong>A 6-year-old male patient with Burkitt's lymphoma, presenting with an uncommon infiltration of the interatrial septum, is described. The patient initially presented with a painful right facial mass, bilateral periorbital edema, and a history of fever, weight loss, and lower limb pain. Imaging revealed extensive disease, including a right masticator muscle mass, mandibular infiltration, and multiple soft tissue and skeletal lesions, along with significant thickening of the interatrial septum. A diagnosis of Stage III Burkitt's lymphoma was confirmed through biopsy and immunohistochemical analysis. The patient was treated according to the ANHL1131 protocol, including Rituximab and multi-agent chemotherapy. Remarkably, the cardiac infiltration showed substantial regression on follow-up echocardiography after chemotherapy.</p><p><strong>Conclusions: </strong>This case underscores the importance of a comprehensive cardiac evaluation in pediatric patients with Burkitt's lymphoma, particularly when presenting with atypical manifestations such as interatrial septum involvement. The findings demonstrate that systemic chemotherapy can effectively treat cardiac infiltration, even in complex cases with extensive disease. This report highlights the need for awareness of rare cardiac presentations in pediatric lymphoma and the critical role of advanced imaging modalities in diagnosis and management. Continuous monitoring and early implementation of cardioprotective strategies are essential to optimize outcomes in such cases.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e121-e124"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A 5-Year Single-center Experience on the Use of Emicizumab Prophylaxis in Children With Severe Hemophilia A With and Without Factor VIII Inhibitors.","authors":"Esraa Mohamed Ahmed Hasan, Jayashree Motwani","doi":"10.1097/MPH.0000000000002997","DOIUrl":"10.1097/MPH.0000000000002997","url":null,"abstract":"<p><strong>Objective: </strong>Emicizumab promotes efficacious hemostasis in persons with hemophilia A persons with hemophilia A with and without inhibitors. Primary analyses of real-world data and clinical trials have shown emicizumab efficacy and safety; however, long-term data are limited.</p><p><strong>Methods: </strong>This retrospective study was conducted to assess real-world long-term outcomes of pediatric patients on emicizumab in our hemophilia center between the period of February 2018 and September 2023. Relevant demographic and clinical data were gathered.</p><p><strong>Results: </strong>Seventy-eight patients were enrolled. Previously untreated patients and minimally treated patients accounted for 14.1% and 10.3% of our recruited patients, respectively. One of 5 patients with active inhibitors experienced a single recombinant activated factor VII-treated bleeding episode while on emicizumab prophylaxis. Twenty-eight (28/78) patients underwent surgical/dental procedures without bleeding complications except for 2 patients (7.1%). Thirty-three patients experienced 62 factor-treated bleeding episodes with only 11 imaging-confirmed joint/muscle bleeding episodes among 8 patients. No major safety concerns were reported in the study and emicizumab was discontinued in 5 patients (2 for antidrug antibody development, 2 for joint bleeding, and 1 for non-compliance).</p><p><strong>Conclusion: </strong>Emicizumab prophylaxis was well tolerated with no new safety concerns, and 45 patients (57.7%) of our cohort exhibited zero-treated bleeds, which was comparable to other published experiences.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e83-e89"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pyrites: A Jaw Mass.","authors":"Sam Lyvannak, Thy Bunpaov, Has Sothearak, Bun Sereyleak, Jason Jarzembowski, Bruce Camitta","doi":"10.1097/MPH.0000000000003010","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003010","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}