Journal of Pediatric Hematology/Oncology最新文献

{"title":"Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening.","authors":"Kökcü Karadag Sefika Ilknur, Karadağ Alpaslan Medine, Karadağ Hüseyin, Uğurtay Eda Turgut, Can Cansu, Yildiran Alisan","doi":"10.1097/MPH.0000000000003008","DOIUrl":"10.1097/MPH.0000000000003008","url":null,"abstract":"<p><strong>Background: </strong>Congenital CD59 deficiency is a rare genetic disorder marked by chronic hemolysis, recurrent cerebrovascular events, and chronic inflammatory demyelinating polyneuropathy (CIDP). In a specific clinic, 3 siblings from a consanguineously married family were diagnosed with this condition, suggesting a genetic predisposition in their village where endogamous marriages are common.</p><p><strong>Materials and methods: </strong>Genetic screening was conducted on 71 individuals from the village, including relatives of the diagnosed siblings, to investigate the prevalence and genetic transmission of the disorder.</p><p><strong>Results: </strong>The screening identified 18 carriers of the genetic mutation and revealed 2 additional siblings of the index patient with the disease. A past case of a cousin with a similar clinical history was also uncovered.</p><p><strong>Conclusion: </strong>The findings highlight the increased risk of genetic disorders like CD59 deficiency in populations with frequent consanguineous marriages. The study underscores the importance of genetic counseling and preventive measures in such communities to mitigate the risk of congenital disorders.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"47 3","pages":"109-114"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692359","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 Unique Case of Gross Hematuria in a Patient With Ewing Sarcoma.","authors":"Matthew T McEvoy, Stephanie Gruner, Rossana Malatesta Muncher, Amanda Brown, John Hicks, Nino Rainusso","doi":"10.1097/MPH.0000000000003009","DOIUrl":"10.1097/MPH.0000000000003009","url":null,"abstract":"<p><p>The standard therapy for Ewing sarcoma, the second most common bone tumor in children, includes alkylating agents such as ifosfamide and cyclophosphamide. One common adverse side effect of such agents is hemorrhagic cystitis, which typically presents with hematuria. We present the case of a patient with Ewing sarcoma who developed persistent gross hematuria followed by severe acute kidney injury while receiving chemotherapy. After interdisciplinary evaluation, including renal biopsy and assessment for lupus nephritis, a unique underlying diagnosis of immune-complex glomerulonephritis was determined. Herein, we discuss this novel case, including stepwise diagnostic evaluation, multimodal therapy, chemotherapy adjustments, and long-term disease monitoring.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"140-143"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516069","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":"Ethosuximide-associated Aplastic Anemia Likely Due to Drug-induced Lupus Erythematosus: A Case Report With Immunologic Insights.","authors":"Nicholas J Dcunha, Olivia A Kwan, Sonali Sen, Gloria E Diaz-Medina, M Tarek Elghetany, Alison A Bertuch, Choladda V Curry","doi":"10.1097/MPH.0000000000003011","DOIUrl":"10.1097/MPH.0000000000003011","url":null,"abstract":"<p><p>Ethosuximide-associated aplastic anemia (AA) is a rare idiosyncratic disorder with unclear etiology. We report a 17-year-old female with absence seizures on ethosuximide, who was incidentally found to have pancytopenia and a markedly hypocellular marrow (<5% cellularity) with lupus erythematosus (LE) cells. The presence of antinuclear and anti-histone antibodies supported a diagnosis of AA secondary to drug-induced lupus erythematosus. Ethosuximide was discontinued, and prednisone started with marked blood count recovery. Our case is the first to elucidate the particular lupus erythematosus association, as evidenced by the combination of immunologic serology, marrow aplasia, and the presence of marrow LE cells.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"131-134"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515479","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":"Hereditary Pyropoikilocytosis as a Modifier of Sickle Cell Disease Severity.","authors":"Megan Lantz, Lily Dolatshahi","doi":"10.1097/MPH.0000000000003012","DOIUrl":"10.1097/MPH.0000000000003012","url":null,"abstract":"<p><p>Mutations that alter the structure of red blood cells, including the mutations that cause sickle cell disease (SCD), are common globally because they protect against malaria. Patients with SCD rarely develop severe anemia that requires blood transfusions before 6 months of age. We present the case of a patient with SCD who developed severe anemia requiring a blood transfusion at 6 weeks old and subsequent transfusions throughout her first two and a half years of life. Next-generation sequencing genetic testing revealed that the patient also had hereditary pyropoikilocytosis (HPP), a severe form of hereditary elliptocytosis (HE), and was heterozygous for glucose-6-phosphate dehydrogenase (G6PD) deficiency. Following splenectomy, the frequency of her transfusions slightly decreased. This case demonstrates that HPP modifies the severity of SCD and highlights the importance of considering additional hematologic conditions and obtaining genetic testing in patients with SCD and early-onset anemia.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"128-130"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557208","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":"Haploidentical Stem Cell Transplantation With TCR-αβ+/CD19+ Depletion in High-risk Pediatric Leukemias: Experience From a Referral Center in Peru.","authors":"Jackeline C Rodriguez-Torres, Alejandra Pando-Caciano, Benigno Future, Marco E Guerrero, Tatiana Saldarriaga, María A Pereda, Sergio A Murillo-Vizcarra","doi":"10.1097/MPH.0000000000003021","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003021","url":null,"abstract":"<p><p>Haploidentical hematopoietic stem cell transplantation (haplo-HSCT) using TCR αβ+/CD19+ depletion provides an alternative treatment for patients with high-risk (HR) leukemias without a matched donor, especially in developing nations with limited donor registries. We present the outcomes of 36 patients <16 years with HR leukemia who underwent haplo-HSCT with TCR αβ+/CD19+ depletion between 2018 and 2022 at a referral center in Peru. Survival probabilities and cumulative incidence functions were calculated using the Kaplan-Meier method. Patients were followed for a median of 17.38 months (range: 2.34 to 60.36 mo). The 5-year overall survival (OS), 5-year event-free survival (EFS), and non-relapse mortality rates were 72.1%, 72.2%, and 16.7%, respectively. The incidence of relapse for the entire group was 11.1%. Acute graft versus host disease (GvHD) was observed in 36.1% of the patients, with only 2.8% experiencing grade III-IV acute GvHD. No patients developed chronic GvHD. Among all patients, CMV reactivations were observed in 27.78%, HHV-6 reactivations in 33.33%, and ADV or BK virus reactivations in 16.67%. Our study suggests that haplo-HSCT with TCR αβ+/CD19+ depletion is a safe and effective treatment for HR pediatric leukemias. Adopting this approach in major transplant centers throughout the country could improve outcomes for this group of patients.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753171","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":"Parameningeal Rhabdomyosarcoma-Clinical Profile, Outcomes, and Prognostic Factors in Children Treated at a Single Center Over a Decade.","authors":"Badira Cheriyalinkal Parambil, Venkata R M Gollamudi, Maya Prasad, Vasundhara Patil, Siddhartha Laskar, Nehal Khanna, Jifmi J Manjali, Sajid Qureshi, Mukta Ramadwar, Poonam Panjwani, Sneha Shah, Akshay Baheti, Akash Pawar, Komal Adhav, Girish Chinnaswamy","doi":"10.1097/MPH.0000000000003024","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003024","url":null,"abstract":"<p><strong>Background: </strong>Parameningeal rhabdomyosarcomas (PM-RMS) in children is challenging to treat. While a 10-year event-free survival (EFS) of 62% has been reported from high-middle income countries (HMICs) for localized disease, data is limited from low-middle income countries (LMICs). We studied the clinical profile, outcomes, and prognostic factors in PM-RMS.</p><p><strong>Materials and methods: </strong>Children aged 15 years or younger with PM-RMS treated on a uniform chemotherapy protocol from January 2013 to December 2021 were retrospectively analyzed. Local therapy at 10 to 12 weeks of induction was radiotherapy (RT)+/-surgery, where possible, with early RT for intracranial extension (ICE).</p><p><strong>Results: </strong>Seventy-six patients with a median age of 6.7 years (range: 3.2 to 15 y), male to female ratio of 1.8:1 formed the study cohort. Eleven patients (14.5%) had metastasis (lungs: 8, bone: 2, and bone marrow: 1) and ICE was seen in 46.1% (n=35). Twenty-five patients (49.0%) had alveolar histology with PAX3/7 positive in 17/59 (28.8%). The median tumor size (tsize) at baseline was 5.2 cm (range: 1.2 to 12.8 cm). Seventy-one patients received RT and 5 also underwent surgery. At a median follow-up of 65 months (range: 53 to 76 mo) 4 year EFS, OS of the whole cohort were 47.3% (95% CI: 34.8%-58.8%), 51.7% (95% CI: 38.0%-64.0%), respectively. Four-year EFS, OS of the localized and metastatic cohort were 54.7% (95% CI: 41.3%-68.1%), 56.0% (95% CI: 42.0%-70.0%), and 9.1% (95% CI: 0%-26.5%), 18.2% (95% CI: 0%-47.8%), respectively. Metastases (HR: 3.38, 95% CI: 1.57-7.26, and P=0.002), tsize (HR: 1.17, 95% CI: 1.02-1.34, and P=0.026) were prognostic for survival on multivariate analysis.</p><p><strong>Conclusions: </strong>Survival of children with localized PM-RMS in our study is relatively fair compared with the reported literature probably due to the application of RT in all despite higher proportion of larger tumors, unfavorable sites of primary, and intracranial extension. Identification of high-risk subsets and optimizing current treatment strategies, both systemic and local therapy may partly improve outcomes.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753176","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":"Maternal Early-onset Preeclampsia Places Preterm Infants at Risk of Thrombocytopenia Requiring Platelet Transfusions.","authors":"Joana Pereira, David Rabiço-Costa, Mariana Marques, Rita Moita, Cristina Ferreras, Filipa Flôr-de-Lima, Inês Azevedo, Gustavo Rocha","doi":"10.1097/MPH.0000000000003022","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003022","url":null,"abstract":"<p><strong>Objectives: </strong>Evaluate the hematological parameters and indices in the blood count collected on the first day of life (D1) in very premature infants born to mothers with early-onset preeclampsia (PE) and their correlation with increased neonatal morbimortality.</p><p><strong>Background: </strong>Changes in hematologic parameters in the blood counts collected after birth associated with PE have been demonstrated by recent studies, although inconsistently.</p><p><strong>Materials and methods: </strong>Retrospective study between 2008 and 2023, at a level III neonatal intensive care unit, including preterm infants with a gestational age below 30 weeks. A blood count was collected on D1 and a comparison of hematological parameters and indices was made between infants exposed or not to PE.</p><p><strong>Results: </strong>We included 206 newborns (PE = 39; no PE = 167). The multivariate analyses showed no significant hematological changes. PE-exposed infants required significantly more platelet transfusions (PE: n = 20 [51.8%]; no PE: n = 34 [20.36%]; P < 0.0001).</p><p><strong>Conclusion: </strong>PE-exposed preterms required more platelet transfusions, which increases the risk of associated complications.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709991","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":"Neuropsychologic Resource Utilization in Solid Tumor Survivors at a Single Institution: A Retrospective Chart Review.","authors":"Kaitlyn Brown, Laura K Sedig, Kaitlin Oswald-McCloskey, Yujie Wang, Elizabeth Stuchell, Rama Jasty-Rao","doi":"10.1097/MPH.0000000000003020","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003020","url":null,"abstract":"<p><p>Survivors of childhood cancers are known to be at risk for neuropsychologic deficits. The underlying cause of these difficulties is multifactorial and neuropsychologic testing (NPT) can identify these deficits. This retrospective review describes NPT referral rates and neuropsychologic outcomes (ie, cognitive deficits and neurodevelopmental diagnoses) for survivors of solid tumors at a single institution, along with the role of having consultation with an academic liaison. In all, 176 charts were reviewed, of which 64 were referred for NPT and 42 completed NPT. Of the survivors who underwent NPT, 18 met criteria for a neurodevelopmental disorder (eg, ADHD) and 16 demonstrated a cognitive deficit or emotional concern. Consultation with an academic liaison was associated with higher rates of referral for NPT. Solid tumor survivors may be at risk of neuropsychologic deficits and should be referred for NPT as a standard of care.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710005","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":"Palliative and End-of-Life Disparities for Pediatric Hispanic, Spanish-Preferring Patients With Cancer.","authors":"Batool El-Atoum, Katie Gradick, Kellee Parker, Dominic Moore, Mark Fluchel, Ana C Sanchez-Birkhead","doi":"10.1097/MPH.0000000000003026","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003026","url":null,"abstract":"<p><p>The influence of ethnicity and language preference on palliative and end-of-life (EOL) experiences in children with cancer is poorly understood. Existing data relies on adult studies and suggests that patients from underserved populations often receive inferior palliative and EOL care, characterized by medically intense care at EOL. This qualitative study explores the EOL experiences of English and Spanish-preferring families of children with poor-prognosis cancers, with the hypothesis that language-based disparities exist. English and Spanish-preferring parents of children with poor-prognosis cancers, and bereaved parents whose children died of cancer within the last 5 years were eligible. Language preference and ethnicity data were obtained from the patient chart and confirmed by self-report during interviews. We conducted 11 interviews with 15 caregivers: 6 in Spanish and 5 in English. Interviews were recorded, transcribed, and analyzed using Braun and Clarke inductive coding approach. Our analysis revealed that many Hispanic, particularly Spanish-preferring families, reported disparities compared with nonHispanic families, including inconsistent interpreter use, confusion about prognosis and treatment, perceived discrimination, inadequate EOL anticipatory guidance, and dissatisfaction with hospice. The study identifies perceived gaps in our current practices that negatively impact pediatric Hispanic, Spanish-preferring patients and their families. Larger scale studies are needed to further explore the influence of language preference on EOL experiences. There is a critical need to better assess the effective delivery of pediatric palliative care among Spanish-preferring families, and interventions to reduce disparities in EOL/palliative care should be founded on the expressed needs of families who prefer to communicate in languages other than English.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709933","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":"Acute Myeloblastic Leukemia in a Child With Duchenne Muscular Dystrophy: A Novel Case and Brief Review of the Literature.","authors":"Daniel S Cirotski, Lindsey Sawyer, Wilson File, Linda Pegram","doi":"10.1097/MPH.0000000000003019","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003019","url":null,"abstract":"<p><p>We present the first documented case of acute myeloid leukemia in a patient with Duchenne muscular dystrophy (DMD). The patient also had a second degree relative that was an obligate carrier of DMD, who died of acute myeloid leukemia as an infant, meeting the criteria of hereditary hematologic malignancy syndrome. We discuss the challenges of managing cancer in the setting of DMD. We briefly review the literature investigating the possible role of dystrophin in carcinogenesis. Lastly, we discuss the possible etiologies of this patient's malignancy being from carcinogenic properties of dystrophin, a cancer-predisposing germline mutation within the family lineage, or genetically unrelated events. This adds to the list of reports of various malignancies in patients with DMD.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657560","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}