Journal of Pediatric Hematology/Oncology最新文献

{"title":"Immunotherapy in Pediatric Constitutional Mismatch Repair Deficiency (CMMRD)-Associated Colorectal Cancer: Report of a Rare Variant and Recommendations for Screening.","authors":"Leigh Selesner, Cortnie R Vaughn, Saad Jazrawi, Edward Fenlon, Kelsie Storm, Kathryn Moyer, Ariel Porto, Mubeen Jafri, Maria Tecos","doi":"10.1097/MPH.0000000000003228","DOIUrl":"10.1097/MPH.0000000000003228","url":null,"abstract":"<p><strong>Background: </strong>Constitutional mismatch repair deficiency is a rare pediatric cancer predisposition syndrome caused by mutations in mismatch repair genes.</p><p><strong>Observations: </strong>We present the case of a 10-year-old with family history of Lynch syndrome, diagnosed with hepatic flexure adenocarcinoma and duodenal adenoma. Germline testing revealed a novel pair of biallelic PMS2 mutations. She received neoadjuvant ipilimumab and nivolumab, followed by total abdominal colectomy and adjuvant CAPEOX (capecitabine, oxaliplatin). Pathology revealed stage IIIB adenocarcinoma with partial response to immunotherapy.</p><p><strong>Conclusions: </strong>This case highlights the use of immunotherapy and screening for pediatric CMMRD-associated colorectal adenocarcinoma in the setting of a novel PMS2 variant.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e273-e276"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148302199","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":"Diagnostic Pitfalls in Pediatric Acute Promyelocytic Leukemia: All-trans Retinoic Acid-Associated Hypercalcemia Mimicking Fungal Meningitis and the Risks of Azole Coadministration.","authors":"Chengying Yuan, Zhi Wan, Ju Gao, Jingjing Sun","doi":"10.1097/MPH.0000000000003243","DOIUrl":"10.1097/MPH.0000000000003243","url":null,"abstract":"<p><strong>Objective: </strong>To alert clinicians to the risk of severe hypercalcemia arising from the ATRA-azole interaction and to highlight a rare diagnostic pitfall involving a false-positive cerebrospinal fluid (CSF) (1,3)-β-D-glucan (BDG) result.</p><p><strong>Background: </strong>Concurrent use of all-trans retinoic acid (ATRA) and azole antifungals poses a risk of severe hypercalcemia in pediatric acute promyelocytic leukemia (APL).</p><p><strong>Methods: </strong>We performed a retrospective clinical and laboratory review of two 10-year-old patients with APL who developed drug-induced toxicity during induction therapy.</p><p><strong>Results: </strong>Both patients developed severe hypercalcemia induced by ATRA combined with fluconazole or voriconazole, presenting with intractable vomiting and headache. Notably, one case was confounded by an elevated CSF (1,3)-β-D-glucan level (a false-positive laboratory artifact), which mimicked fungal meningitis and delayed the correct diagnosis.</p><p><strong>Conclusions: </strong>Clinicians must remain vigilant for ATRA-associated hypercalcemia during azole co-administration. Recognizing diagnostic mimics and implementing routine calcium monitoring are crucial to prevent misdiagnosis and severe toxicity.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e255-e258"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317842","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":"Hepatobiliary Abnormalities in Children With Sickle Cell Anemia Attending a Tertiary Hospital in Northwestern Tanzania.","authors":"Maria M Tarimo, Emmanuela E Ambrose, Tulla Masoza, Delfina R Msanga, Benson Kidenya, Luke R Smart, Patrick S Ngoya","doi":"10.1097/MPH.0000000000003250","DOIUrl":"10.1097/MPH.0000000000003250","url":null,"abstract":"<p><p>Hepatobiliary complications are common in children with sickle cell anemia (SCA) due to chronic hemolysis and vaso-occlusion, but are often underdiagnosed in low-resource settings where imaging is limited. This hospital-based cross-sectional study, conducted from March to May 2023, assessed the prevalence and characteristics of hepatobiliary abnormalities using ultrasound among children younger than 18 years with SCA at a tertiary hospital in Tanzania. Demographic and clinical characteristics, laboratory findings, and abdominal ultrasonography were obtained. Logistic regression was used to identify factors associated with hepatobiliary abnormalities. A total of 194 children aged 2 to 16 years were enrolled, of whom 52% were male and 47.9% were receiving hydroxyurea. The overall prevalence of hepatobiliary abnormalities was 57.2%. The most common findings were hepatomegaly (41%), low portal vein peak systolic velocity (14%), and biliary calculi or sludge (9%). Children aged 6 to 10 years (aOR=0.1, 95% CI: 0.05-0.3; P <0.001) and 11 to 16 years (aOR=0.1, 95% CI: 0.03-0.2; P <0.001) had lower odds of abnormalities compared with those aged 2 to 5 years, while biliary calculi or sludge were more frequent in older children ( P =0.005). Hepatobiliary abnormalities are highly prevalent and often asymptomatic, highlighting the importance of early screening and routine monitoring.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471475","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":"Temporal Patterns of Clinical Events as Markers of Terminal Decline in Pediatric Oncology Patients.","authors":"Alper Uygun, Ayhan Dağdemir, İbrahim Kartal, Oğuz Salih Dinçer, Merve Ecem Öğretici Çolak, Gamzenur Yalçınkaya","doi":"10.1097/MPH.0000000000003254","DOIUrl":"10.1097/MPH.0000000000003254","url":null,"abstract":"<p><p>This retrospective observational study examined the timing and sequence of clinical events during terminal hospitalization in pediatric oncology patients with progressive, treatment-refractory disease. The study included 54 children with solid tumors who died as inpatients at a tertiary center in Turkey between 2015 and 2025. Clinical events were mapped from admission to death, including both the time from admission to event onset and the interval from event onset to death. The most common diagnoses were neuroblastoma, Ewing sarcoma, and osteosarcoma. Patients experienced a mean of 3.1 ± 1.9 clinical events during terminal hospitalization. The most frequent events were intubation (64.8%), hypotension (57.4%), sepsis (48.1%), and electrolyte imbalance (35.2%). Temporal analysis showed that sepsis and hypotension occurred relatively early, with median onset times of 15.5 and 15 days after admission, respectively, whereas acute renal failure emerged later, with a median onset of 49 days. New-onset hypotension, intubation, and acute renal failure were closely associated with imminent death, with median intervals from event onset to death of 6, 7, and 3.5 days, respectively. These findings suggest that terminal decline in pediatric oncology follows measurable temporal patterns, and objective events such as hypotension, intubation, and acute renal failure may help clinicians recognize irreversible deterioration earlier.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471532","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":"Knowledge Translation of Pharmacogenomics for Pain Management in Patients With Sickle Cell Disease-A Qualitative Study.","authors":"Audrey Rosenblatt, Vanessa Williams, Nathan Lamb, Renee Manworren","doi":"10.1097/MPH.0000000000003206","DOIUrl":"10.1097/MPH.0000000000003206","url":null,"abstract":"<p><strong>Background: </strong>Health care providers (HCPs) currently prescribe analgesics based on clinical experience, placing Black Americans with sickle cell disease (SCD) at risk for poorly controlled pain, adverse drug effects, and bias. Pharmacogenomics could guide individualized pain management, but many HCPs feel unprepared to use this information in practice.</p><p><strong>Objective: </strong>This qualitative research study explored the needs of pediatric hematology HCPs to integrate pharmacogenomics into care for SCD.</p><p><strong>Design/setting: </strong>Semistructured interviews and focus groups were conducted at a large urban quaternary-care hospital using a constructivist grounded theory approach to identify knowledge and implementation needs.</p><p><strong>Participants: </strong>Physicians and nurse practitioners in the department of hematology/oncology, and registered nurses providing inpatient care for patients with SCD in vaso-occlusive crisis were recruited for interviews.</p><p><strong>Results: </strong>Three major themes emerged from the study: (1) a perceived lack of knowledge about pharmacogenomics; (2) challenges in controlling pain; and (3) functionality of the electronic medical record (EMR).</p><p><strong>Conclusion: </strong>HCPs feel unprepared to use pharmacogenomic data to manage pain experienced by patients with SCD. Continuing education and point-of-care tools are needed to translate pharmacogenetic data into clinical practice. The EMR is essential for bridging the knowledge-to-practice gap and advancing precision pain management for people with SCD.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"224-229"},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147982193","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 Pleuropulmonary Blastoma Revealed By Massive Hemothorax: Multidisciplinary Diagnostic and Therapeutic Challenges.","authors":"Ilaria Buconi, Angelo Zarfati, Cristina Martucci, Giorgio Persano, Gian L Natali, Gaia Brunetti, Paola Francalanci, Maria D De Paquale, Annalisa Serra, Chiara Grimaldi, Alessandro Crocoli","doi":"10.1097/MPH.0000000000003204","DOIUrl":"10.1097/MPH.0000000000003204","url":null,"abstract":"<p><p>Pleuropulmonary blastoma (PPB) is a rare pediatric thoracic malignancy that typically presents with nonspecific respiratory symptoms and only exceptionally with spontaneous hemothorax. We report 3 pediatric cases in which PPB initially manifested as severe spontaneous hemothorax: a 2-year-old boy presenting in hemorrhagic shock with right-sided hemothorax (PPB type III), a 3-year-old boy with nontraumatic left hemothorax (PPB type II), and a 3-year-old girl initially suspected of having a vascular malformation who was ultimately diagnosed with PPB type II. In all cases, prompt recognition and a coordinated multidisciplinary approach involving emergency management, surgery, oncology, and intensive care enabled effective treatment. All patients completed therapy and are alive and in good clinical condition at the last follow-up. These cases highlight that, although uncommon, PPB should be included in the differential diagnosis of spontaneous hemothorax in pediatric patients.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e212-e215"},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774562","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":"Clinicohematological and Genetic Profile of Hereditary Spherocytosis in Children: An Experience From a North Indian Center.","authors":"Ankita Chakraborty, Manas Kalra, Anupam Sachdeva, Jyoti Kotwal, Sabina Langer, Amrita Saraf, Pallavi Rana, Surbhi Dahiya, Vandana Arya, Satish Aggarwal, Alpana Prasad","doi":"10.1097/MPH.0000000000003205","DOIUrl":"10.1097/MPH.0000000000003205","url":null,"abstract":"<p><strong>Background: </strong>Hereditary spherocytosis (HS) is a genetically and clinically diverse red cell membrane disorder, with limited clinical and molecular data on pediatric patients from India.</p><p><strong>Methods: </strong>This ambispective study, conducted at a North Indian tertiary center over a period of 6 years, evaluated HS patients for clinical, laboratory, genetic, and treatment outcomes.</p><p><strong>Results: </strong>Forty-seven patients (33 males, 14 females; mean age 12.1±8.7 yrs) were analyzed. Family history was contributory in 40.4%. Around 72.3% patients required at least one PRBC transfusion by the time of analysis, while 9 were transfusion dependent. Hemolytic facies and growth retardation were seen in 25.6% and 30.7%, while gallstones were found in 42.5%. MCHC was 32.2±1.92% and was not found to be a useful screening test. Incubated osmotic fragility testing (iOFT) was positive in 36 cases (sensitivity 76.6%), while eosin-5-maleimide (EMA) binding by flow cytometry was positive in 41 cases (sensitivity 87.2%), detecting all cases missed or equivocal on iOFT and demonstrating superior diagnostic yield. The remaining 6 cases were confirmed by genetic testing, which served as the definitive diagnostic modality. Among 34 patients tested genetically, mutations were found in ANK1 (n=14), SPTB (n=12), SLC4A1 (n=3), EPB42 (n=4), and SPTA1 (n=1). Beyond classic HS mutations, additional findings included PKLR mutations (n=2), hereditary elliptocytosis (n=2), dehydrated stomatocytosis (n=2), and Gilbert syndrome (n=4) with cholelithiasis. Genetic testing refined diagnoses, reclassifying one Congenital Dyserythropoietic Anemia (CDA) case as HS and 4 HS cases as alternative etiologies.</p><p><strong>Conclusion: </strong>This study underscores the clinical and genetic heterogeneity of Indian HS, demonstrating the value of combining the EMA dye test with genetic sequencing. The disease impacted facial features and growth, while splenectomy showed good outcomes in severe cases.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"217-223"},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774573","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":"COVID-19 and Influenza Vaccine Acceptance and Hesitancy Among Caregivers of Children With Cancer.","authors":"Alastair Murray, Palcah Shibale, Jennifer Wilkes, Janet A Englund, Michael A Bender, Jeffrey R Harris, Annika M Hofstetter","doi":"10.1097/MPH.0000000000003199","DOIUrl":"10.1097/MPH.0000000000003199","url":null,"abstract":"<p><strong>Introduction: </strong>Children with cancer are immunocompromised and at increased risk for severe outcomes from infections such as COVID-19 and influenza. Vaccination is recommended, but caregiver perceptions in this high-risk group are not well characterized.</p><p><strong>Methods: </strong>We conducted a cross-sectional survey of English- and Spanish-speaking caregivers of pediatric oncology patients at a large urban pediatric hospital between March and June 2022, during evolving COVID-19 vaccine authorization and recommendations for children. The survey assessed vaccine-related knowledge, attitudes, and hesitancy regarding COVID-19 and influenza. Responses were linked to the child's electronic health record. COVID-19 vaccine acceptance, defined as documented or caregiver-reported receipt, or intention to vaccinate if age-ineligible, was the primary outcome. Influenza vaccine acceptance was a secondary outcome. Associations were analyzed using multivariable logistic regression.</p><p><strong>Results: </strong>Of 442 eligible caregivers, 100 (23%) participated. COVID-19 vaccine acceptance was 71%, influenza acceptance was 82%, and 57% of caregivers were vaccine-hesitant. Vaccine hesitancy was negatively associated with COVID-19 vaccine acceptance. In contrast, perceived vaccine safety, efficacy, prior influenza vaccination, and concern about cancer during the pandemic were positively associated.</p><p><strong>Conclusion: </strong>Caregiver attitudes significantly influenced vaccine acceptance. Interventions that strengthen provider communication, address safety and efficacy concerns, and acknowledge caregiver perceptions may help reduce hesitancy in this vulnerable population.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e160-e166"},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147941817","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":"Internalizing and Externalizing Problems and Psychiatric Comorbidities in Children With Hereditary Spherocytosis.","authors":"Seda Erbaş, Mustafa Özay, Hilal Yazici Kopuz, Berhan Akdağ","doi":"10.1097/MPH.0000000000003225","DOIUrl":"10.1097/MPH.0000000000003225","url":null,"abstract":"<p><p>This study evaluated internalizing and externalizing problems, as well as psychiatric comorbidities, in children with hereditary spherocytosis (HS). The study cohort comprised children followed at the Department of Pediatric Hematology at Gaziantep City Hospital (n=27). Psychiatric diagnoses were assessed using a semi-structured interview, and parents completed the Strengths and Difficulties Questionnaire (SDQ) to evaluate internalizing and externalizing symptoms in their children. Based on the semi-structured interview, 29.6% of patients (n=8) met diagnostic criteria for attention-deficit/hyperactivity disorder (ADHD), followed by enuresis (22.2%, n=6). Compared with the control group, children with HS demonstrated higher parent-reported SDQ scores for both internalizing ( P =0.042) and externalizing problems ( P =0.017). Among the SDQ subdomains, children with HS had significantly higher hyperactivity/inattention scores than controls ( P =0.004). No significant between-group differences were identified in other domains, including emotional symptoms, conduct problems, and peer relationship problems. These findings suggest that children with HS may experience a greater burden of internalizing and externalizing difficulties than their healthy peers and may also be at increased risk of psychiatric comorbidities, particularly ADHD. Larger multicenter studies are warranted to confirm and extend these findings.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e134-e137"},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148218227","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 High-Risk Neuroblastoma Treated With Autologous Stem Cell Transplant-Experience From a Tertiary Cancer Center in India.","authors":"Helie Raval, Dale Montes, Maharshi Trivedi, Chinmay Doctor, Harsha Panchal","doi":"10.1097/MPH.0000000000003215","DOIUrl":"10.1097/MPH.0000000000003215","url":null,"abstract":"<p><p>High-risk neuroblastoma (HR-NB) remains a therapeutic challenge in low- and middle-income countries. We retrospectively analyzed the clinical characteristics, treatment response, transplant outcomes, event-free survival, and overall survival of pediatric patients with HR-NB treated with intensive multimodality therapy, including autologous stem cell transplant (ASCT) at a resource-limited tertiary cancer center between January 2013 and January 2024. Children aged 18 years or younger received rapid-COJEC induction chemotherapy, followed by surgical resection when feasible, ASCT with busulfan-melphalan conditioning, radiotherapy, and differentiation therapy with 13-cis-retinoic acid. Eighteen patients were included, with a male-to-female ratio of 2:1 and a median age of 4 years. The adrenal gland was the most common primary site in 55.55% of patients. Bone marrow and bone metastases were present in 72.2% and 44.4% of patients, respectively. Complete response after induction was achieved in 44.4% of patients. Median neutrophil engraftment occurred at 13 days. At a median follow-up of 17 months, 55.5% of patients were alive in remission. Relapse occurred in 50%, with most succumbing to the disease. There was no treatment-related mortality. Two-year event-free and overall survival were 55.3% and 65.6%, respectively. Outcomes were comparable to other resource-limited settings, and the lack of complete response after induction did not adversely affect event-free survival.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e196-e199"},"PeriodicalIF":0.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148218142","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}