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":"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":"Rare Inherited Coagulation Deficiencies: A Single-center Study.","authors":"Özlem Terzi, Sadik Sami Hatipoğlu","doi":"10.1097/MPH.0000000000002985","DOIUrl":"10.1097/MPH.0000000000002985","url":null,"abstract":"<p><strong>Background: </strong>Rare factor deficiency (RFD) is characterized by a deficiency of factor (F)I, FII, FV, FVII, FX, FXI, FXII, FXIII, or a combined deficiency of FV+FVIII or vitamin K-dependent factors. The prevalence of RFD ranges from 1/1,000,000 to 3,000,000. Combined deficiencies of vitamin K-related factors have been described in 30 families worldwide, and these patients can present with a wide range of clinical symptoms, from mucocutaneous bleeding to life-threatening symptoms such as central nervous system and gastrointestinal bleeding.</p><p><strong>Objective: </strong>This study aimed to contribute to the literature on RFD.</p><p><strong>Material and methods: </strong>This retrospective study analyzed data from 43 children with RFD.</p><p><strong>Results: </strong>The most common factor deficiencies were FVII (n=13); whereas the other deficiencies were FI (n=1), FV (n=2), FV+FVIII (n=2), FX (n=6), FXI (n=5), FXII (n=9), FXIII (n=3), and vitamin K-dependent combined factor deficiency (n=2). Acute and severe bleeding was controlled by treatment in 6 patients, and 12 patients with recurrent bleeding symptoms received prophylaxis. RFDs were more common in regions with high rates of consanguineous marriage, and in our study, 16 (16/43) of the cases were found to have consanguineous marriages between parents.</p><p><strong>Conclusions: </strong>It is important to improve genetic counseling and access to testing for family members with RFD due to autosomal recessive inheritance. Delays in diagnosis and treatment and lack of adequate prevention are important risk factors for life-threatening bleeding.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e90-e95"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882411","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":"Clonorchiasis, Marked Eosinophilia, and the Lack of Blasts in the Circulation Delaying the Diagnosis of Pediatric B-Lymphocytic Leukemia.","authors":"Ke Cao, Xiaojuan Luo, Defa Li, Xueyan Chen","doi":"10.1097/MPH.0000000000002989","DOIUrl":"10.1097/MPH.0000000000002989","url":null,"abstract":"<p><p>Eosinophilia is rare in pediatric acute lymphoblastic leukemia. In this report, we present a case of acute lymphoblastic leukemia with marked eosinophilia, whose diagnosis was delayed because of clonorchiasis.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e118-e120"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962295","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":"An Atypical Case of Neonatal Alloimmune Thrombocytopenia.","authors":"Gülsen Mutluoglu, Barbara De Muynck, Marie-Paule Emonds, Tom Van Maerken","doi":"10.1097/MPH.0000000000002988","DOIUrl":"10.1097/MPH.0000000000002988","url":null,"abstract":"<p><p>Fetal and neonatal alloimmune thrombocytopenia (FNAIT) results from maternal antibodies targeting fetal platelets during pregnancy, often causing hemorrhagic manifestations detectable antenatally or shortly after birth. We report an atypical form of FNAIT with delayed onset in a healthy, breastfed male infant who developed diffuse petechiae 2 weeks after birth due to severe thrombocytopenia. The mother was shown to be negative for the human platelet antigen-1a (HPA-1a) allele but had anti-HPA-1a IgG antibodies, while the father and newborn were HPA-1a positive, confirming the diagnosis. Despite intravenous immunoglobulins and platelet transfusions, the recovery was slow. Analysis of breast milk demonstrated the presence of anti-HPA-1a IgG antibodies. The unusual clinical presentation 2 weeks after birth and the slow platelet recovery under appropriate treatment suggest postnatal transfer of maternal anti-HPA-1a antibodies or B lymphocytes producing these antibodies to the newborn, which may possibly have occurred through breastfeeding. Further research is needed to validate these findings and understand the role of breast milk in provoking the disease. Early detection and management remain essential to prevent serious complications associated with FNAIT.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e125-e127"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962294","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":"Contributions of Pediatric Hematology/Oncology to the Diagnosis, Treatment, and Cure of Acute Lymphoblastic Leukemia-Part 2b (Numbers 16 to 20).","authors":"Denis R Miller","doi":"10.1097/MPH.0000000000002981","DOIUrl":"10.1097/MPH.0000000000002981","url":null,"abstract":"<p><p>This offering represents part 2b of a second set of 5 additional contributions of pediatric hematology/oncology to the diagnosis, treatment, and potential cure of precursor B-cell acute lymphoblastic leukemia. It contains numbers 16 to 20 and includes (16) allogeneic hematopoietic stem cell transplantation, newer immunotherapies including (17) blinatumomab, and (18) inotuzumab ozogamicin, (19) ploidy, and (20) creation of the \"day hospital\" to administer outpatient care to children with acute lymphoblastic leukemia and other cancers. These and the other reviewed contributions have had a significant role in improving the quality and duration of the lives of children, most of whom faced tragic and painful death back in the 1950s and 1960s. Most of our early optimistic goals were achieved and have benefitted substantially our patients, providing those of us who participated in many of these key clinical trials, a profound sense of accomplishment.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"53-58"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801186","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":"Severe Unexplained Iron Deficiency Anemia in Children: High Yield of Upper Gastrointestinal Endoscopy Regardless of Gastrointestinal Symptoms: Erratum.","authors":"","doi":"10.1097/MPH.0000000000003007","DOIUrl":"10.1097/MPH.0000000000003007","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"47 2","pages":"85"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492459","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":"Implementation of a Low-risk Algorithm for Outpatient Management of Febrile Pediatric Patients With Sickle Cell Disease.","authors":"Jason Erno, Laurence Noisette, Shayla Bergmann, Charyse Diaz, Brittany Depriest, Paul J Nietert, Michelle Hudspeth","doi":"10.1097/MPH.0000000000002992","DOIUrl":"10.1097/MPH.0000000000002992","url":null,"abstract":"<p><strong>Background: </strong>Splenic dysfunction in children with sickle cell disease (SCD) increases the risk of serious bacterial infections; therefore, families are instructed to seek medical care in the presence of fever. Recurrent hospital admissions of patients with SCD cause financial and resource burdens on caregivers and the health care system, contributing to a lower quality of life in this patient population. Recent studies have documented a reduction of the incidence of bacterial infections among these patients managed on an outpatient basis with no association of increased morbidity and mortality. We decided to establish a partnership between our pediatric hematology/oncology division and pediatric emergency medicine division to initiate an algorithm to identify low-risk patients eligible for outpatient management.</p><p><strong>Procedure: </strong>We conducted a retrospective review of patients with SCD younger than 18 years of age, followed at the Comprehensive Care Sickle Cell Center at the Medical University of South Carolina (MUSC), who presented to our Pediatric Emergency Department (ED) with a temperature ≥101°F from July 1, 2018 to June 30, 2020.</p><p><strong>Results: </strong>The mean length of stay and age at admission were nearly equal between pre-implementation and post-implementation of the algorithm. The admission rates from the study for were 55.2% and 43.6% pre-implementation and post-implementation, respectively. Patients revisited the ED within 72 hours in 6.7% of patients in pre-implementation and 5.9% of patients in post-implementation. There were no patient deaths.</p><p><strong>Conclusions: </strong>Our pathway helps standardize the treatment of febrile pediatric patients with SCD. Although the decrease in admissions did not reach statistical significance, the > 10% decrease in admissions was likely meaningful to reduce health care burdens for patients and families.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"47 2","pages":"80-85"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11864588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492456","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":"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":"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. 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":"74-79"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","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}