Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, generally associated with high cure rates, though relapse remains a leading cause of mortality. TP53, located on chromosome 17p13, is a key tumor suppressor regulating cell cycle, apoptosis, and genomic stability. While TP53 mutations are rare at diagnosis, they are enriched in low-hypodiploid and relapsed ALL, conferring high-risk features and poor prognosis. We report two pediatric cases of TP53-mutated ALL with distinct clinical courses. The first case, a 10-year-old girl, presented with fever, gum bleeding, and cervical lymphadenopathy; bone marrow evaluation revealed precursor B-cell ALL with low-hypodiploid and a TP53 exon 7 missense mutation (c.743G＞A; p.Arg248Gln). She received BFM 2022 induction therapy, achieving morphological remission but remaining MRD-positive (1.5%), and attained MRD negativity (MRD＜0.01%) following high-risk consolidation, with haploidentical HSCT planned. The second case, a 12-year-old boy with late B-ALL relapse four years after initial remission, exhibited low-hypodiploid and a TP53 exon 4 missense mutation (c.370T＞G; p.Cys124Gly). Treatment with inotuzumab ozogamicin plus mini-HyperCVAD induced complete morphological and molecular remission (MRD＜0.01%), and he remains in sustained remission while awaiting haploidentical HSCT. TP53-mutated ALL represents a rare and aggressive subtype associated with high relapse rates and chemoresistance. Early molecular detection, incorporation of targeted immunotherapies, and timely allogeneic transplantation are essential strategies for improving outcomes in this high-risk group.

Background: Pediatric hospice and palliative care (PHPC) in South Korea remains in its early stages, influenced by cultural taboos surrounding death and its frequent association with geriatric care. While focusing on South Korean parents, this study also provides insights into cultural barriers common among Asian families with collectivist values. This qualitative study explored parental perceptions and cultural barriers to address the current evidence gap and to inform the development of culturally sensitive PHPC models in South Korea. Methods: Semi-structured interviews were conducted with 13 participants (12 parents and one patient) recruited from a tertiary hospital in South Korea. Participants were caregivers of children with serious chronic complex illnesses, including both malignant and non-malignant serious chronic or potentially life-limiting conditions. Data collection continued until pragmatic thematic saturation was achieved, and transcripts were analyzed using Krippendorff’s content analysis with an inductive coding approach. Results: Four overarching themes emerged: (1) cognitive and emotional barriers related to stigma and misconceptions; (2) perceived multidimensional benefits beyond clinical care; (3) family-centered support needs; and (4) strategies to optimize PHPC delivery. Many parents described experiences consistent with transgenerational guilt, reflecting feelings of guilt about passing an illness or vulnerability to their child, which emerged as a potential psychological barrier to PHPC engagement. Conclusion A substantial gap exists between recognition of PHPC and parental willingness to utilize services. Reframing PHPC as an early, concurrent support system led by healthcare professionals and supported by culturally sensitive communication may reduce parental guilt and improve access to family-centered palliative care services.

Autoimmune hemolytic anemia (AIHA) is a rare immune-mediated disorder in children that can present as primary or secondary to other diseases. Here, we report an unusual case of steroid-refractory warm AIHA in an 11-year-old girl whose condition was ultimately cured after removal of a benign ovarian tumor. Despite receiving multiple lines of therapy—including corticosteroids, rituximab, cyclosporine, sirolimus, and mycophenolate mofetil—the patient experienced recurrent hemolysis and steroid dependence for nearly four years. Abdominopelvic imaging performed to evaluate fever revealed bilateral ovarian cystic lesions, including a left-sided dermoid cyst. Surgical resection of the tumor led to complete and sustained hematologic remission, with normalization of hemoglobin, bilirubin, and reticulocyte counts, allowing discontinuation of all immunosuppressive agents. No recurrence of hemolysis was observed during 18 months of follow-up. This case highlights the potential for benign ovarian tumors to act as a rare secondary cause of AIHA through paraneoplastic or immune cross-reactive mechanisms. Awareness of such associations is crucial when evaluating pediatric patients with refractory or relapsing AIHA, as identification and removal of an occult tumor may achieve definitive resolution of hemolysis and avoid long-term immunosuppression.

Background: Polycythemia (PC), defined as packed cell volume (PCV) ≥65% is seen in many admitted neonates. Apart from PCV, other red blood cell (RBC) indices may also be affected in these neonates with PC. These RBC indices can have clinical implications and may determine whether the baby becomes symptomatic or not and also play a role in deciding the severity of symptoms. The indices may affect the outcomes of these babies. Therefore, we aimed to determine the impact of PC on other RBC parameters in neonates and analyse whether they differ from babies without PC. Methods: We studied 73 neonates admitted to the neonatal intensive care unit with PC for the RBC indices. These indices of infants with PC were compared with controls (1:1) who were admitted infants with matched characteristics and no PC. Results: 73.9% of the total study subjects with PC had hypoxic ischemic encephalopathy (HIE) and/or were small for gestational age. The red cell distribution width (RDW) and RBC count in polycythemic neonates were significantly higher than in neonates without PC. A significant positive linear correlation was found between PCV at admission and mean corpuscular hemoglobin concentration and RBC count. The mean corpuscular volume (MCV) significantly increased with the severity of PC. Conclusion Our study highlights that PC is associated with changes in other RBC parameters as well. The RBC count and RDW in neonates with PC were significantly different from controls and the MCV varied with the severity of PC. The RBC parameters in polycythemic neonates can be studied further for clinical implications in these neonates.

Background: Autosomal dominant giant platelet syndrome (GPS) is characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies in leukocytes.Previous studies suggest relatively preserved platelet structure and function, implicating impaired megakaryocyte fragmentation. This study aimed to identify myosin heavy chain 9 (MYH9) mutations in Korean patients with GPS and to define the associated clinical, molecular and functional characteristics. Methods: After detailed personal and family history taking, peripheral blood smears were reviewed for platelet size, count, and leukocyte inclusions. MYH9 mutations were analyzed in peripheral blood mononuclear cells by direct sequencing of selected exons or complementary DNA (cDNA). Computer-assisted structural modeling was performed to evaluate the functional consequences of identified mutations. Results: Twenty-two affected individuals from six unrelated families were diagnosed with hereditary macrothrombocytopenia consistent with GPS. The median platelet count was 59,000/L, and the mean platelet volume was markedly increased (17.8 fL). Platelets ranged from approximately half to 1.5 times the size of red blood cells.Döhle-like inclusions were observed in 25-33% of leukocytes in four families. Extrahematologic manifestations included hearing impairment (family with Ile1816Val) and renal involvement, ranging from mild proteinuria to chronic renal failure requiring renal transplantation (family with Lys373Asn). Five families harbored MYH9 mutations—Arg1933Ter, Trp33Cys (novel), Lys373Asn, Ile1816Val, and Arg1165Cys—located in exons 40, 1, 10, 37, and 26, respectively; mutations segregated with affected status.Biochemical analysis revealed decreased MYH9 in soluble fractions with increased insoluble pellets; Trp33Cys and Lys373Asn produced aberrant approximately 140 kDa bands in addition to the normal 224 kDa band. Modeling localized Trp33Cys to the proximal myosin head region implicated in actin interaction. Conclusion Five GPS-associated MYH9 mutations were identified, including a novel Trp33Cys variant. Altered MYH9 solubility and disturbed protein–protein interactions may contribute to disease pathogenesis.

Refractory iron deficiency anemia (IDA) in children should be investigated beyond dietary deficiency, particularly when accompanied by growth faltering or hypoalbuminemia. PTEN hamartoma tumor syndrome, which includes the Bannayan–Riley– Ruvalcaba syndrome (BRRS) spectrum, may cause diffuse gastrointestinal polyposis, resulting in chronic occult blood and protein loss. We report the case of a girl born in 2015 who presented at the age of two years with severe IDA (hemoglobin 5.0 g/dL, mean corpuscular volume 53.6 fL). Oral iron therapy was initiated, followed by intermittent intravenous iron infusions at progressively shorter intervals; however, the anemia recurred. Stool occult blood and fecal calprotectin test results were consistently negative during this period. Endoscopy and capsule endoscopy revealed diffuse gastrointestinal polyposis, including numerous small bowel polyps with ulcerative features. Genetic analysis revealed a heterozygous pathogenic variant in PTEN, NM_000314.8:c.389G＞A (p.Arg130Gln). Despite endoscopic polypectomy and oral nutritional supplementation, IDA, hypoalbuminemia (albumin, 2.5-3.2 g/dL), and growth faltering persisted. Extraintestinal findings included macrocephaly, lipomatous masses, a subcutaneous hamartoma, and brain magnetic resonance imaging findings consistent with BRRS. Sirolimus therapy was initiated in September 2025, targeting a trough level of 6-10 ng/mL. By 6 months, hemoglobin stabilized at 12.9 g/dL, albumin normalized to 4.4 g/dL, weight increased by 5.1 kg, body mass index improved from below the 3rd percentile to the 10th percentile, and intravenous iron was no longer required. This case suggests that sirolimus may be beneficial in the treatment of diffuse PTEN-related gastrointestinal polyposis when endoscopic management is insufficient.

An 8-year-old girl with chronic immune thrombocytopenic purpura treated with eltrombopag presented with lactic acidosis and severe hyperammonemic encephalopathy necessitating hemofiltration. Genetic metabolic disorders associated with hyperammonemia were excluded. Despite standard dosing, supratherapeutic plasma levels of eltrombopag were found, suggesting an adverse drug effect due to drug accumulation. Awareness of hyperammonemia as adverse reaction to eltrombopag is warranted. Close monitoring of transaminases is required in children and therapeutic drug monitoring could aid in tailoring effective treatment doses for children to mitigate risk in populations that are more susceptible to complications.

Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.

Background: Delivering a poor prognosis to patients and their families is critically challenging in pediatric populations. The application of palliative care (PC) provides a bridge between accepting the occurrence of mortality and offering lifelong support.However, little is known about the specifics of PC. This study aims to explore the unmet need for PC in pediatric populations. Methods: We retrospectively reviewed the medical records of mortality cases in the Department of Pediatric Hematology and Oncology at Chang Gung Memorial Hospital. Statistical tests, including Chi-square and Student’s t-tests, were applied to determine the differences between early and late intervention groups in terms of the timing of PC introduction. Results: During the study period, 41 patients were included. Their median age was 11.8 years (IQR, 7.6-15.9). The majority of the disease statuses were refractory or relapsing (R/R). The incidence of memento application was significantly higher in the early intervention group (47.6% vs. 10%, P=0.0081). Vital signs variations tended to be end-of-life (EoL) indicators in this study. Conclusion The early introduction of PC encourages families to accompany their beloved child. EoL signs in the pediatric population include vital sign variations. With the presence of relevant EoL signs, clinical physicians can apply PC earlier to meet the needs.