Rachel Offenbacher, Sara Kaswan, Lara Fabish, Carly Barron, Jana Fox, Steven Chin, Matija Snuderl, Alice Lee, David M Loeb, Alissa Baker
{"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}
Laura M Molina, Akhila Rao, Julia Meade, Judy H Squires, Svetlana A Yatsenko, Claudia M Salgado, Miguel Reyes-Múgica
{"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}
Valeria Ceolin, Manuela Spadea, Vincenzo Apolito, Francesco Saglio, Franca Fagioli
{"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}
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
{"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}
Sam Lyvannak, Bun Sereyleak, Mariko Kakazu, Hor Bisiphan, Jason Jarzembowski, Bruce Camitta
{"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}
Kayla M Schmittau, Brian M Walker, Nupur Mittal, Lisa Giordano
{"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":"Effect of Donor/Recipient ABO Mismatch on Outcome of Allogenic Hematopoietic Stem Cell Transplantation in Children: Single-Center Study.","authors":"Asmaa Abdel-Raof El-Kaffas, Amany Mahmoud El-Barky, Eslam Elsayed Elhawary","doi":"10.1097/MPH.0000000000002958","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002958","url":null,"abstract":"<p><p>ABO blood group mismatch between donor and recipient is thought to be associated with several immunopharmacological complications but is not considered a major contraindication to allogeneic hematopoietic stem cell transplantation (HSCT). However, the impact of such a mismatch on overall survival, transplant-related mortality, graft-versus-host disease, and time to neutrophil and platelet engraftment seems to be conflicting. This retrospective cohort was carried out on children and adolescents who underwent allogenic HSCT between January 2016 and January 2023. ABO compatibility state was assessed and grouped into compatible, minor, major, and bidirectional incompatible groups. The effect of ABO compatibility on various transplantation outcomes was assessed. Forty-three children (25 males and 18 females) with different diagnoses were included. More than half of the patients had no ABO mismatch. Major ABO mismatch was found to be associated with a higher incidence of acute graft-versus-host-disease (aGVHD), whereas near significantly higher mortality was observed in the minor mismatch group. Otherwise, no association was found between ABO mismatch and platelet or neutrophil engraftment. ABO mismatch does not affect the overall survival or the posttransplant engraftment of patients undergoing allogeneic HSCT. aGVHD was observed to be the only factor affected by ABO compatibility.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622674","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}
Taylor L Chappell, Ellen G Pflaster, Resty Namata, Jometa Bell, Lane H Miller, William F Pomputius, Justin J Boutilier, Yoav H Messinger
{"title":"Bloodstream Infections in Childhood Acute Myeloid Leukemia and Machine Learning Models: A Single-Institutional Analysis.","authors":"Taylor L Chappell, Ellen G Pflaster, Resty Namata, Jometa Bell, Lane H Miller, William F Pomputius, Justin J Boutilier, Yoav H Messinger","doi":"10.1097/MPH.0000000000002957","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002957","url":null,"abstract":"<p><p>Childhood acute myeloid leukemia (AML) requires intensive chemotherapy, which may result in life-threatening bloodstream infections (BSIs). This study evaluated whether machine learning (ML) could predict BSI using electronic medical records. All children treated for AML at Children's Minnesota between 2005 and 2019 were included. Patients with Down syndrome AML or acute promyelocytic leukemia were excluded. Standard statistics analyzed predictors of BSI, and ML models were trained to predict BSI. Of 95 AML patients, 54.7% had BSI. Of 480 admissions, 19% included BSI. No deaths were related to BSI, and survival of non-Whites was significantly inferior to White patients. Logistic regression revealed that higher cytarabine doses increased the risk of BSI, with an odds ratio (OR) of 1.110 (P < 0.05). Prophylactic levofloxacin-vancomycin reduced the risk of BSI, with OR of 0.495 (P < 0.05). The best-performing ML model was regularized logistic regression with an area under the curve (AUC) of 0.748, improved specificity by 37.5% compared with neutropenia, and 2.6% compared with fever. In conclusion, BSI risk was increased by cytarabine and reduced by levofloxacin-vancomycin prophylaxis. ML predicted BSI with improvement over fever or neutropenia. In clinical practice, ML may offer flexibility by controlling sensitivity and specificity by adjusting BSI diagnosis thresholds.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622664","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":"Successful Development and Implementation of Communication Skills Simulation Training Within Pediatric Hematology-oncology Fellowship Education.","authors":"Kerri Becktell, Sarah Rumler, Richard L Tower","doi":"10.1097/MPH.0000000000002959","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002959","url":null,"abstract":"<p><p>Difficult discussions with patients and families are a primary component of pediatric oncology care. We report our experience in the development and implementation of a longitudinal simulation-based Communication Skills Curriculum within a pediatric hematology-oncology fellowship training program. A 6-session simulation curriculum was created for fellows to practice difficult oncology related discussions with a standardized patient (SP). This program was implemented in 2017 and continues presently. Throughout fellowship training the scenarios progress in content and scope. Each simulation was observed and recorded, and written and verbal feedback was provided. The Gap-Kalamazoo Communication Skills Assessment Form was used to assess communication skills in each session. A total of 15 fellows (100% of possible participants) have participated in this curriculum to date. Across all domains of communication skills assessed, the ratings given by the physician evaluators and self-evaluations improved over the course of the scenarios completed throughout fellowship training. This type of simulation-based communication skills curriculum within a pediatric hematology-oncology fellowship training program is feasible to implement. This training is useful to fellows beyond training in improving communication skills, which has the potential to directly benefit the future patients they care for.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622713","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}