Journal of Pediatric Hematology/Oncology最新文献

Subependymal giant cell astrocytoma (SEGA) is a slow-growing glial or glioneuronal tumor that almost exclusively occurs in patients with Tuberous Sclerosis Complex (TSC), a rare autosomal dominant condition that causes growth of benign tumors throughout the body. Herein, we present 4 cases of isolated SEGA in patients with negative germline testing for TSC alterations and present a comprehensive literature review of other cases of sporadic SEGA. This case series emphasizes the importance of considering SEGA on the differential diagnosis for periventricular tumors even in the absence of other sequelae of TSC and illustrates the importance of long-term monitoring for tuberous sclerosis-related complications.

The objective of this study is to present the characteristics of cerebral type adrenoleukodystrophy (cALD) and our hematopoietic stem cell transplantation (HSCT) experience in treating cALD. A retrospective analysis and summary of the clinical data pertaining to 10 patients after allogeneic HSCT (allo-HSCT) was conducted from June 2020 to October 2023. Six patients exhibited no neurological symptoms, and MRI of 5 cases revealed no abnormalities at the onset of the disease. The 3-year overall survival (OS) and event-free survival (EFS) rate was 90.0% (95% CI: 69.4-100.0) and 65.6% (95% CI: 35.6-98.4), respectively. Survival analysis showed unrelated donor choice was associated with a superior OS and EFS compared with related donor sources, but these differences were not statistically significant (P=0.414, 0.184). cALD patients without magnetic resonance imaging (MRI) abnormalities at the initial onset of the disease increased the OS compared with the patients with MRI abnormalities, and the OS of patients with NFS=0 was superior before HSCT to those with NFS ≥1, however, the differences were not significant. But the EFS was obviously superior to those cALD patients with abnormal MRI status (P=0.013) at the initial onset of the disease and neurological functional symptoms before HSCT (P=0.023). Early screening is necessary for children with a family history of suspected genetic diseases and atypical neurological symptoms to improve allo-HSCT outcomes.

Rhabdomyosarcoma constitutes 3% to 4% of childhood cancers, with nearly half seen in the head and neck location. We aimed to investigate the clinical features and treatment outcomes of 65 children diagnosed and treated for head and neck rhabdomyosarcoma (RMS) between 2004 and 2018. The median age was 5.8 years with a 37:28 M/F ratio. The primary location was parameningeal in 49.2%, orbital in 35.4%, and other nonparameningeal in 15.4% patients. The most common histopathologic subtype was the embryonal subtype (73.8%). The chemotherapy regimens of CDCV (cisplatin, doxorubicin, cyclophosphamide, vincristine); VAC/VAdrC (vincristine, actinomycin-D, cyclophosphamide/vincristine, doxorubicin, cyclophosphamide); PIAV (ifosfamide, cisplatin, vincristine, doxorubicin); and VDC/IE (vincristine, doxorubicin, cyclophosphamide, ifosfamide, etoposide) were used depending on the years of diagnosis. The tumor location, risk grouping, and stage were found as the significant prognostic factors. The 5-year event-free survival (EFS) rate for all patients 41.2% and the overall survival (OS) rate was 59.3%. The 5-year OS rates were 85.2% and 80% in the orbital and other nonparameningeal RMS, respectively, it was 34.2% in the parameningeal RMS patients ( P =0.01). The patients with advanced stage, parameningeal disease have poor prognosis. New treatment approaches should be investigated to improve the outcomes in these groups.

This qualitative study assessed the perceptions of caregivers of adolescents with sickle cell disease regarding fertility preservation consultation before stem cell transplant, through semistructured interviews. We interviewed 7 caregiver-adolescent dyads and 1 caregiver whose child didn't meet inclusion criteria due to age. Thematic analysis revealed 3 major inter-related themes: burden of sickle cell disease, decisional regret about reproductive choices, and hope that infertility would not impact them. Our study found that comprehension about the potential for infertility varied significantly, with a strong underlying hope that infertility will not impact them. Many of our caregivers and adolescents indicated decisional regret, suggesting they would now make a different choice about fertility preservation before transplant. Conversations and communication surrounding infertility in the setting of stem cell transplant is vital for our patients to understand the long-term impacts of curative therapy, to best ensure that their long-term quality of life goals will be met. Though the recent movement towards reduced intensity conditioning regimens in SCT may prove less gonadotoxic, fertility outcome data are not yet known. This study underscores the importance of effective communication during dedicated fertility consultations to help families make informed decisions for their children.

Three adolescent patients with B-cell acute lymphoblastic leukemia (B-ALL) presented with psychotic symptoms, mutism, movement disorders, and day-night disturbances during induction chemotherapy, which clinically resembled anti-NMDAR encephalitis. However, all patients were negative for anti-NMDAR antibodies. They also experienced chemotherapy-induced liver dysfunction, weight loss, and malnutrition, which led to biochemical changes (elevated blood ammonia, elevated blood glutamate, and copper deficiency) known to affect NMDA receptor activity. This suggests that there may be some common, undefined pathways in these 2 different pathologies. Early nutritional intervention should be considered for patients who may be at risk for this significant neurotoxicity.

Background: High-dose methotrexate (HDMTX) remains integral to acute lymphoblastic leukemia/lymphoma (ALL) treatment. However, high MTX concentrations can lead to acute kidney injury (KI) and other toxicities. We investigated whether measured GFR (mGFR) by iohexol clearance better predicts delayed MTX excretion and/or toxicity compared with standard of care using an estimated GFR (eGFR). We also examined if KI biomarkers (urine KIM-1 and clusterin, serum cystatin C, and plasma FGF23) identify KI more frequently than serum creatinine (sCr) alone.

Procedure: ALL patients receive 4 doses of HDMTX with alkalinized IV fluids, leucovorin rescue, and MTX clearance per the standard of care. We obtained mGFRs before HDMTX doses 1 and 4. eGFR was calculated using the Schwartz formula and biomarkers of KI were collected around each HDMTX dose.

Results: Overall, there were some associations between the mGFR/biomarkers with KI and other toxicities, but mGFR was not found to be a better predictor of delayed MTX clearance or toxicity than eGFR. The biomarkers did not predict KI development more frequently than sCr alone.

Conclusions: On the basis of this study, there is no evidence that the current standard of care for determining the GFR in advance of HDMTX administration, nor postadministration management, should be adjusted.

Background: Ependymomas of the posterior fossa type A (PF-A) with a combined chromosome 1q gain and 6q loss are associated with an extremely high risk of recurrence and a very poor outcome.

Observations: We report the case of a 4-year-old girl who received adjuvant oral etoposide for 1 year after conventional treatment (surgery and focal radiation). The patient remains in clinical and radiologic remission 2.5 years post-diagnosis.

Conclusions: This approach of using oral etoposide could be considered in ultra-high-risk 6q loss PF-A ependymoma to try and decrease the risk of relapse, awaiting further evaluation in a clinical trial.

Glucose-6-phosphate (G6PD) deficiency is the most prevalent enzyme deficiency and is estimated to affect 400 million people. The patients are usually asymptomatic and diagnosed following hemolytic episodes triggered by oxidative stress. Another type of hemolytic anemia known as dehydrated hereditary stomatocytosis (DHSt) is estimated to affect less than 1 per 1,000,000 people. DHSt is caused by increased cation efflux and dehydration in red blood cells, which leads to decreased flexibility making them more vulnerable to lysis. Compared with G6PD, DHSt has a mild presentation, where most patients (84%) with isolated DHSt exhibit chronic hemolysis. Both diseases, G6PD deficiency and DHSt, are inherited hemolytic anemias and to the best of our knowledge have never been reported to coexist in the same patient. Herein, we present the first case of concurrent G6PD deficiency and DHS in a 4-month-old male. We discuss the clinical presentation and hematopathology findings from this patient as well as provide a comparison literature review. We believe this presentation will add to the current body of knowledge for these conditions and help to guide future investigation and management.

Background: Hypercalcemia is an uncommon but clinically significant complication of pediatric malignancies that often presents with symptoms. However, in this case series, we report 4 children with nonspecific symptoms of hypercalcemia detected incidentally on routine biochemical evaluation at the time of leukemia diagnosis.

Case presentation: Patients, 5 to 9 years of age, had underlying malignancies, including Hodgkin lymphoma (stage IIA), pre-B-cell acute lymphoblastic leukemia, and acute promyelocytic leukemia. All the patients presented with severe hypercalcemia, necessitating prompt intervention. Treatment consisted of hyperhydration, loop diuretics, bisphosphonates, and calcitonin, along with the management of the underlying malignancy. Successful resolution of hypercalcemia was achieved in all cases, with no future recurrence.

Conclusion: This case series highlights the importance of the routine biochemical screening for newly diagnosed pediatric malignancies, particularly for nonspecific symptoms of hypercalcemia, which may otherwise go unrecognized. Although hypercalcemia in hematological malignancies is well-documented, our findings stress the silent presentation and reinforce the clinical need for early identification to avoid metabolic complications.