Journal of Pediatric Hematology/Oncology最新文献

Childhood acute lymphoblastic leukemia survivors (ALL-S) face an increased risk of abnormal glucose metabolism (AGM). This study aimed to assess glucose metabolism in 141 ALL-S. All underwent an oral glucose tolerance test (OGTT) and were classified into AGM and normal glucose tolerance (NGT) groups. Insulin sensitivity and secretion indices were calculated from plasma glucose and serum insulin derived from the OGTT. Fat mass index (FMI) was derived from body composition analysis. Sixty-seven of 141 (48%) ALL-S had AGM. AGM was demonstrated in 33 of 98 nonobese ALL-S. ALL-S with AGM had a greater waist circumference percentile and FMI SD score than those with NGT. In addition, ALL-S with AGM had lower insulin sensitivity (greater homeostasis model assessment of insulin resistance: 2.3 [1.4, 3.3] vs. 1.0 [0.5, 1.4], P <0.001 and lower whole-body insulin sensitivity index: 3.5 [2.3, 4.1] vs. 7.9 [5.3, 10.9], P <0.001) and lower insulin secretion relative to insulin sensitivity (disposition index: 5.8 [4.2, 10.2] vs. 10.0 [6.1, 14.6], P <0.001) than those with NGT. Therefore, ALL-S could develop AGM regardless of their body mass index status. AGM in ALL-S stemmed from both insulin resistance and impaired insulin secretion.

Atypical teratoid/rhabdoid tumors (AT/RT) are malignant central nervous system (CNS) tumors. Typically, AT/RT is classified as SMARCB1 (INI-1) deficient or as SMARCA4 (BRG1) deficient. In this case, we describe a unique case of AT/RT with a novel SMARCA4 missense variant identified on next-generation sequencing but retained expression of INI-1 and BRG-1 on immunohistochemistry. Diagnosis of the tumor and discovery of the novel SMARCA4 variant was only possible after comprehensive tumor molecular testing tailored for pediatric malignancies. This case highlights the importance of molecular genetic testing as part of a workup in neoplasms concerning for possible AT/RT.

Alectinib, an ALK inhibitor used for ALK+ non-small cell lung cancer and other malignancies, has been associated with anemia and RBC abnormalities, including acanthocytosis. We report the first case of alectinib-induced acanthocytosis and hemolysis causing anemia during treatment for anaplastic large cell lymphoma in an 11-year-old boy. Extensive testing, including next-generation sequencing, and a specific indirect antiglobulin test conducted with alectinib, was performed to document this hemolytic anemia. Dose reduction improved hemoglobin levels, allowing completion of the 2-year treatment, suggesting a dose-dependent mechanism. Blood counts and morphology normalized after discontinuation of alectinib. A comprehensive literature review and discussion of the underlying mechanisms are also provided.

Alterations of PHOX2B function is associated with a wide range of diseases, including congenital central hypoventilation syndrome (CCHS) and neural crest-derived tumors, from low-grade (ganglioneuromas) to malignant forms (neuroblastomas). We report a case bearing a novel nonpolyalanine repeat PHOX2B pathogenic variant presenting both as high-risk neuroblastoma and late-onset CCHS. CCHS was revealed upon severe respiratory decompensation while the patient was administered the anti-GD2 antibody dinutuximab-beta, as part of neuroblastoma treatment. From this experience, we make propositions for the management of patients with high-risk neuroblastoma and a constitutional pathogenic variant of PHOX2B .

In the literature, long-term autoinflammatory disease (AID)-like symptoms are extremely rare in childhood acute leukemia cases. Here, we report a 14-month-old girl with KMT2A::LASP1 -positive acute monocytic leukemia diagnosed after a 7-month course of AID-like symptoms. KMT2A::LASP1 fusion was retrospectively detected in her bone marrow at the initial presentation of AID-like symptoms, suggesting the involvement of leukemia cells in her AID-like symptoms. Immediately after starting chemotherapy, the patient sequentially developed leukemic cell lysis pneumopathy (LCLP), which was successfully overcome by the continuation of chemotherapy under intensive respiratory support, thus suggesting a possible association of her AID-like symptoms with the development of LCLP.

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.

Background: 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.

Materials and methods: 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.

Results: 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.

Conclusion: 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.

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.