Journal of Pediatric Hematology/Oncology最新文献

{"title":"Hemolytic Anemia With Acanthocytes During Alectinib Treatment of Anaplastic T-Cell Lymphoma: A Case Report and Literature Review.","authors":"Kevin Boumeghar, Nimrod Buchbinder, Capucine Metot, Elsa Bera, Véronique Picard, Thomas Modot, Florian Gallais, Sylvie Daliphard, Victor Bobée","doi":"10.1097/MPH.0000000000003003","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003003","url":null,"abstract":"<p><p>Alectinib, an ALK inhibitor used for ALK+ non-small cell lung cancer and other malignancies, has been associated with anemia and RBC abnormalities, including acanthocytosis. We report the first case of alectinib-induced acanthocytosis and hemolysis causing anemia during treatment for anaplastic large cell lymphoma in an 11-year-old boy. Extensive testing, including next-generation sequencing, and a specific indirect antiglobulin test conducted with alectinib, was performed to document this hemolytic anemia. Dose reduction improved hemoglobin levels, allowing completion of the 2-year treatment, suggesting a dose-dependent mechanism. Blood counts and morphology normalized after discontinuation of alectinib. A comprehensive literature review and discussion of the underlying mechanisms are also provided.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441324","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":"PHOX2B-associated Congenital Central Hypoventilation Syndrome Revealed Upon Treatment With Dinutuximab-beta.","authors":"Alix Chupin, Benjamin Dudoignon, Nathalie Couque, Plamen Bokov, Sophie Mayer, Fatoumata Simaga, Marion Gauthier-Villars, Caroline Masserot, Sakina Benkaddouss, Pascale Philippe-Chomette, Emmanuel Jouglar, Julien Masliah-Planchon, Isabelle Aerts, Dominique Valteau-Couanet, Franck Bourdeaut, Gudrun Schleiermacher, Yassine Bouchoucha","doi":"10.1097/MPH.0000000000003005","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003005","url":null,"abstract":"<p><p>Alterations of PHOX2B function is associated with a wide range of diseases, including congenital central hypoventilation syndrome (CCHS) and neural crest-derived tumors, from low-grade (ganglioneuromas) to malignant forms (neuroblastomas). We report a case bearing a novel nonpolyalanine repeat PHOX2B pathogenic variant presenting both as high-risk neuroblastoma and late-onset CCHS. CCHS was revealed upon severe respiratory decompensation while the patient was administered the anti-GD2 antibody dinutuximab-beta, as part of neuroblastoma treatment. From this experience, we make propositions for the management of patients with high-risk neuroblastoma and a constitutional pathogenic variant of PHOX2B.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441328","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":"Unique Presentation of Autoinflammatory Disease-like Symptoms and Development of Leukemic Cell Lysis Pneumopathy in Childhood KMT2A::LASP1-positive Acute Monocytic Leukemia.","authors":"Hyunho Kim, Koshi Akahane, Minori Tamai, Shin Kasai, Anna Kobayashi, Miwa Goto, Kumiko Goi, Takeshi Inukai","doi":"10.1097/MPH.0000000000003006","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003006","url":null,"abstract":"<p><p>In the literature, long-term autoinflammatory disease (AID)-like symptoms are extremely rare in childhood acute leukemia cases. Here, we report a 14-month-old girl with KMT2A::LASP1-positive acute monocytic leukemia diagnosed after a 7-month course of AID-like symptoms. KMT2A::LASP1 fusion was retrospectively detected in her bone marrow at the initial presentation of AID-like symptoms, suggesting the involvement of leukemia cells in her AID-like symptoms. Immediately after starting chemotherapy, the patient sequentially developed leukemic cell lysis pneumopathy (LCLP), which was successfully overcome by the continuation of chemotherapy under intensive respiratory support, thus suggesting a possible association of her AID-like symptoms with the development of LCLP.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441345","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":"Cell-in-cell Phenomenon in Pure Erythroid Leukemia.","authors":"Natalia Rotari, Ayami Yoshimi","doi":"10.1097/MPH.0000000000003002","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003002","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441308","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":"The Diagnostic Yield of Panel Versus Exome Sequencing to Identify Hereditary Cancer Disorders in Pediatric Cancer.","authors":"Shannon M Lozinsky, Carina A Iezzi, Dorota Gruber, Kenan Onel, Carolyn Fein Levy","doi":"10.1097/MPH.0000000000003000","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003000","url":null,"abstract":"<p><p>This study aimed to assess whether targeted exome sequencing (TES) outperforms next- generation sequencing (NGS) panels in detecting clinically actionable cancer predisposition syndromes (CPS) in pediatric cancer patients. Patients with cancer underwent genetic counseling and NGS panel testing (27 or 64 genes). Simultaneously, a 616-gene targeted exome, including the NGS panel genes and 552 additional potential cancer-related genes, was conducted on the patients and their parents. Out of 42 patients undergoing both tests, NGS panels identified an APC risk allele (RA) in a patient with ganglioglioma and a pathogenic RB1 variant in a patient with retinoblastoma. In addition to the variants found by NGS panels, TES detected a pathogenic MUTYH variant in a patient with acute lymphoblastic leukemia (ALL) and a likely pathogenic (LP) BLM variant in another patient with ALL. TES also revealed a variant in candidate CPS genes, MC1R (RA) and EXT2 (LP), in a patient with embryonal rhabdomyosarcoma and Ewing sarcoma, respectively. Despite identifying variants in candidate CPS genes (MC1R, EXT2) not included on common NGS panels and known CPS genes (MUTYH, BLM) absent from this study's panels, the diagnostic yield of clinically actionable CPS variants did not substantially increase with TES compared with standard NGS panels in pediatric cancer patients. In conclusion, for most cases, panel testing remains appropriate for CPS diagnosis in pediatric cancer within typical clinical settings.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123004","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":"https://doi.org/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 neurological delay.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","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":"Treatment of T-cell Leukemia/Lymphoma in Children and Young Adults With the Memorial Sloan Kettering Cancer Center New York IIB Protocol.","authors":"Peter G Steinherz, Audrey Mauguen, Stephanie Suser, Kavitha Ramaswamy, Rachel Kobos, Christopher J Forlenza, Neerav Shukla, Tanya Trippett, Suzanne Wolden, Laurel Steinherz","doi":"10.1097/MPH.0000000000002999","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002999","url":null,"abstract":"<p><p>We described the Memorial Sloan Kettering Cancer Center New York IIB (MSK-NYII) protocol pilot in 1993, for the treatment of acute lymphoblastic leukemia (ALL) in children at high risk of early relapse. We now report MSK-NYII for the treatment of T-ALL/T-lymphoma over a 15-year period. A review of all patient charts identified 63 treated from 1/1/2000-12/31/2015, with a median follow-up of 9.9 years. Further follow-ups were confounded by the COVID pandemic. Remissions (CR) were defined as <5% marrow blast count on Day 28 and resolution of extramedullary disease. Forty-four had T-ALL, and 19 had stage III/IV lymphoblastic lymphoma (T-LL). Median age at diagnosis was 13.6 years (range 0.4 to 23.7). At diagnosis central nervous system (CNS) leukemia was present in 7/63 patients (11%), cranial nerve palsy in 3 (5%), CNS2 [<5cells/µL cerebrospinal fluid with blasts seen on cytospin] in 11 (17%), testicular enlargement in 3 (5%), and mediastinal mass in 45 (71%). On Day 8, 37 T-ALL (86%) were rapid early responders with <25% marrow blasts. 54 patients had an examination, cerebrospinal fluid, and marrow evaluation on day 28. Remission was demonstrated in 53 (98%) after prior marrow and CNS disease. The 19 T-lymphoma patients had no evidence of disease on day 28. Four relapses in marrow were recorded during therapy. Second remissions were able to be achieved. One patient died without having relapsed and is counted as an event in the event-free survival (EFS) analysis. Four patients, including 3 after the second CR transplant, died during follow-up. One unusual case of T-ALL recurred as T-LL of the colon 5.5 years after diagnosis, 3.5 years after therapy discontinuation. Fifteen years after diagnosis 88% (95% CI=78%-98%) survived event-free, and 91% (95% CI=82%-100%) survived. Twenty-five patients received irradiation. Three had RT to the testes, 3 had cranial RT for cranial nerve palsies, and 19 had cranial radiation for either CNS leukemia, CNS2, or for initial white blood cell >100,000/ µL. The MSK-NYIIB protocol, with a 94% 5-year and 88% 15-year EFS, is an effective therapy for the treatment of T-ALL/lymphoma, with similar toxicity to other high-risk regimens.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123008","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":"https://doi.org/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":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-20","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":"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":"https://doi.org/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/m2), doxorubicin (75 mg/m2), and cyclophosphamide (1.2 g/m2) alternating with ifosfamide (9 g/m2), etoposide (500 mg/m2) 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":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-14","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":"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":"https://doi.org/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 out 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":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-14","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}