Journal of Pediatric Hematology/Oncology最新文献

{"title":"Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler.","authors":"Jesse White, Kerri Becktell, Amanda Hopp, Nicole Liberio, Yajuan J Liu, Jennifer Hadjiev","doi":"10.1097/MPH.0000000000002955","DOIUrl":"10.1097/MPH.0000000000002955","url":null,"abstract":"<p><p>Spindle cell tumors in the pediatric population are uncommonly reported. This case discusses an 18-month-old who presented initially with unilateral ptosis and was found to have an orbital spindle cell tumor. Pathology evaluation of the tissue was extensive with nonspecific morphologic and immunohistochemical features. Molecular testing demonstrated an MN1::TAF3 fusion on RNA sequencing, which has not been previously described in the literature in association with spindle cell neoplasms. This case highlights the challenging nature of classifying and treating a tumor with a novel fusion.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"442-445"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391331","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":"Sclerosing Epithelioid Fibrosarcoma Harboring the EWSR1 - CREB3L1 Gene Fusion: The Importance of Molecular Classification in Pediatric Sarcomas.","authors":"Rachel Offenbacher, Sara Kaswan, Lara Fabish, Carly Barron, Jana Fox, Steven Chin, Matija Snuderl, Alice Lee, David M Loeb, Alissa Baker","doi":"10.1097/MPH.0000000000002952","DOIUrl":"10.1097/MPH.0000000000002952","url":null,"abstract":"<p><strong>Background: </strong>Sclerosing epithelioid fibrosarcoma (SEF) is a very rare soft tissue sarcoma that most commonly presents in middle-aged and elderly adults but has been rarely seen in children. SEF is a very aggressive tumor with over 50% of patients experiencing local recurrence and 40% to 80% of patients experiencing distant metastatic spread. This disease has been shown to be resistant to chemotherapy and is classically treated with surgical excision.</p><p><strong>Case: </strong>We describe the case of a 10-year-old girl with Graves' disease who presented with protruding eyes (to a greater extent on the left side) and was found to have a large mass in her left inferior rectus muscle that was diagnosed as SEF. After treatment with incomplete resection, due to the benign-appearing nature of the tumor on imaging, and proton radiation therapy, she remains disease-free at 18 months post-therapy.</p><p><strong>Discussion: </strong>SEF is typically identified via genetic testing and recognition of the EWSR1 - CREB3L1 gene fusion as well as MUC4 expression via immunohistochemistry. DNA methylation profiling, which has traditionally been used in brain tumors, can also efficiently identify this tumor, and we recommend expanding the use of this technology for difficult to classify pediatric sarcomas.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"433-437"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289674","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":"Hiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor.","authors":"Laura M Molina, Akhila Rao, Julia Meade, Judy H Squires, Svetlana A Yatsenko, Claudia M Salgado, Miguel Reyes-Múgica","doi":"10.1097/MPH.0000000000002951","DOIUrl":"10.1097/MPH.0000000000002951","url":null,"abstract":"<p><p>Most pediatric specialists, including hematologists/oncologists, surgeons, radiologists, and pathologists, are familiar with the diagnosis and management of Wilms tumor (WT). However, it may be challenging to identify the underlying conditions causing cancer predisposition, which can change the management for the patient and potentially their entire family. In this paper, we present 3 cases of clinically suspected WT associated with Beckwith-Wiedemann syndrome (BWS). We review the radiologic and histologic findings to diagnose BWS. We also discuss the implications of a BWS diagnosis on the clinical management of WT and follow-up guidelines for BWS patients.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"424-428"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142468242","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":"Emerging CART Therapies for Pediatric Acute Myeloid Leukemia.","authors":"Valeria Ceolin, Manuela Spadea, Vincenzo Apolito, Francesco Saglio, Franca Fagioli","doi":"10.1097/MPH.0000000000002956","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002956","url":null,"abstract":"<p><p>The prognosis of children with acute myeloid leukemia (AML) has improved incrementally over the last decades. However, at relapse, overall survival (OS) ∼40% to 50% and is even lower for patients with chemorefractory disease. Effective and less-toxic therapies are urgently needed for these children. In the last years, immune-directed therapies such as chimeric antigen receptor (CAR)-T cells were introduced, which showed outstanding clinical activity against B-cell malignancies. CART therapies are being developed for AML on the basis of the results obtained for other hematologic malignancies. The biggest challenge of CART therapy for AML is to identify a specific target antigen, since antigens expressed in AML cells are usually shared with healthy hematopoietic stem cells. An overview of prospects of CART in pediatric AML, focused on the common antigens targeted by CART in AML that have been tested or are currently under investigation, is provided in this manuscript.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"46 8","pages":"393-403"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522196","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":"Cancer Predisposition Syndromes in Children: Who, How, and When Should Genetic Studies Be Considered?","authors":"Mónica Camacho-Arias, Marta Villa, Sara Álvarez de Andres, Bárbara Rivera, Paula Vázquez, Patricia Letón, Laura Martín-López, Marta Pilar Osuna-Marco, Blanca López-Ibor","doi":"10.1097/MPH.0000000000002932","DOIUrl":"10.1097/MPH.0000000000002932","url":null,"abstract":"<p><p>Early detection of cancer predisposition syndromes (CPS) is crucial to determine optimal treatments and follow-up, and to provide appropriate genetic counseling. This study outlines an approach in a pediatric oncology unit, where 50 randomly selected patients underwent clinical assessment, leading to 44 eligible for genetic testing. We identified 2 pathogenic or likely pathogenic variants in genes associated with CPS and 6 variants of uncertain significance (VUS) potentially associated with cancer development. We emphasize the importance of a thorough and accurate collection of family history and physical examination data and the full coordination between pediatric oncologists and geneticists.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"409-414"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289670","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 Rectal Mass.","authors":"Sam Lyvannak, Bun Sereyleak, Mariko Kakazu, Hor Bisiphan, Jason Jarzembowski, Bruce Camitta","doi":"10.1097/MPH.0000000000002900","DOIUrl":"10.1097/MPH.0000000000002900","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"446-447"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723755","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":"Eosinophilia in a Neonate With Trisomy 21, Transient Abnormal Myelopoiesis, and Neurofibromatosis Type 1.","authors":"Kayla M Schmittau, Brian M Walker, Nupur Mittal, Lisa Giordano","doi":"10.1097/MPH.0000000000002950","DOIUrl":"10.1097/MPH.0000000000002950","url":null,"abstract":"<p><p>Transient abnormal myelopoiesis is a syndrome that causes excess proliferation of immature myeloid cells and occurs in 10% to 15% of neonates with trisomy 21. Transient abnormal myelopoiesis usually resolves spontaneously but occasionally requires treatment with chemotherapy. The disorder is not typically associated with eosinophilia. We report on a neonate with trisomy 21 and transient abnormal myelopoiesis characterized by leukocytosis with marked eosinophilia. The patient required 2 cycles of cytarabine for adequate myeloproliferative control. Furthermore, this patient was subsequently also diagnosed with neurofibromatosis type 1, which has no known association with trisomy 21 or transient abnormal myelopoiesis.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"419-423"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289671","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":"Allogeneic Hematopoietic Cell Transplantation With Reduced Toxicity Conditioning for Pediatric B Lymphoid Malignancy.","authors":"Yuki Naito, Shinya Osone, Kohei Mitsuno, Takuyo Kanayama, Azusa Mayumi, Toshihiko Imamura, Tomoko Iehara","doi":"10.1097/MPH.0000000000002936","DOIUrl":"10.1097/MPH.0000000000002936","url":null,"abstract":"<p><strong>Background: </strong>Conventional conditioning regimens for children with lymphoid malignancy undergoing allogeneic hematopoietic cell transplantation (HCT) are myeloablative and involve high-dose total body irradiation (TBI). Such regimens are associated with significant late complications.</p><p><strong>Observations: </strong>Here, we used a reduced-toxicity conditioning regimen comprising fludarabine, cytarabine, melphalan, and low-dose TBI (FLAMEL) to treat 5 patients with lymphoid malignancy before HCT. Four patients maintained complete remission (range, 18 to 63 mo), whereas the remaining patient who had positive minimal residual disease (MRD) before HCT relapsed.</p><p><strong>Conclusions: </strong>FLAMEL might be a suitable conditioning regimen for children with lymphoid malignancy if pre-HCT MRD is negative.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e537-e540"},"PeriodicalIF":0.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982541","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":"Understanding Diagnosis Delay in Children With Cancer: Evidence From a Single Institution in Jordan.","authors":"Anwar Al-Nassan, Tariq Almanaseer, Saja Malkawi, Farah Al-Bitar, Dayana Jibrin, Omaima El-Qurnah, Shaima Bataineh, Maen Kamal, Salsabeel Sweidan, Mayada Abu-Shanab, Iyad Sultan","doi":"10.1097/MPH.0000000000002926","DOIUrl":"10.1097/MPH.0000000000002926","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to evaluate the factors associated with diagnosis delay in children with cancer who are treated at a single institution, which caters to most children with cancer in Jordan.</p><p><strong>Methods: </strong>This was a cross-sectional study with a retrospective chart review of selected patients who were diagnosed from August 2018 to December 2021. Data on patient and household characteristics, medical history, and diagnostic delay were collected through structured interviews. Univariable and multivariable linear and logistic regression models were used to identify predictors of delay.</p><p><strong>Results: </strong>The study included a cohort of 202 patient-caregiver pairs, with a median total delay from symptom onset to treatment initiation of 47 days (interquartile range [IQR], 21 to 114 d). Notably, 86% of families pursued medical consultation within a month of recognizing symptoms. A regression model revealed CNS tumors as a significant independent predictor of increased total delay ( P =0.002), with affected patients experiencing a median delay markedly longer than those with other cancer types. In addition, older patient age predicted longer total delay ( P =0.025). Symptomatology played a pivotal role in the timeliness of the diagnosis; specifically, visible symptoms such as pallor, bruises, and jaundice were associated with more expedient medical attention, with significantly shorter delays ( P values: 0.011, <0.001, and 0.045, respectively). Furthermore, our investigation disclosed a notable variance in symptom prevalence across different cancer categories, elucidating the complex relationship between clinical presentation and diagnostic timelines.</p><p><strong>Conclusions: </strong>This study highlights the importance of the diagnosis of CNS tumors, patient age, and symptoms in predicting diagnosis delay in pediatric oncology patients. These findings can inform interventions to reduce delays in diagnosis and improve outcomes for these patients. These insights are crucial for developing targeted educational programs aimed at healthcare professionals and families to accelerate the recognition and referral of pediatric cancer cases.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e508-e514"},"PeriodicalIF":0.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982545","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":"Omalizumab for Treatment of Anti-GD2 Antibody-related Urticaria.","authors":"Rachel Glincher, Angela Lentini-Rivera, Latisha Andre Jones, Linda D'Andrea, Christina Durney, Christine Kasper, Yichih Lin, Leslie Shrager, Alina Markova, Mario Lacouture, Shakeel Modak","doi":"10.1097/MPH.0000000000002939","DOIUrl":"10.1097/MPH.0000000000002939","url":null,"abstract":"<p><p>Outcomes for high-risk neuroblastoma have improved with the addition of antidisialoganglioside (GD2) antibody-mediated immunotherapy to multimodality therapy. Urticaria is an expected side effect of anti-GD2 immunotherapy. Rarely, despite maximal use of antihistamines and H2 receptor antagonists, refractory urticaria can result in impaired quality of life, and delays or discontinuation of immunotherapy. The anti-IgE monoclonal antibody, omalizumab, is approved for the treatment of asthma and chronic spontaneous urticaria. We successfully managed grade 3, naxitamab-related urticaria refractory to standard management in 2 patients using omalizumab, allowing for continued anti-GD2 immunotherapy. Omalizumab did not impact antitumor activity or immunogenicity of naxitamab.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e531-e533"},"PeriodicalIF":0.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036108","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}