Journal of Pediatric Hematology/Oncology最新文献

Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy. This case report suggests that children with BRAFN486_T491delinsK mutation might differ from adult counterparts in terms of clinical behavior, and conventional chemotherapy might still be an effective therapy.

Borderline ovarian tumors (BOTs) are rare in pediatric populations and typically follow an indolent clinical course with few reported recurrences. Consequently, guidelines for pediatric BOT management are minimal. We retrospectively examined the management of 15 adolescent patients who underwent BOT resection at our institution over 14 years, with a specific focus on recurrence. Data collected include age, symptoms, tumor characteristics, laboratory markers, surgical management, staging, and follow-up. Fifteen patients with BOTs (median age: 16 y) presented with abdominal pain (67%), or distention (33%). Cancer antigen-125 marker was elevated in 10/13 patients. There were 11 (73%) tumors with serous and 4 (23%) with mucinous histology. Most received fertility-preserving surgery (93%) and disease stage was 1A in 7 (47%), 1B/1C in 5 (33%), and stage 2B or higher in 3 (20%) patients. Additional staging procedures, including peritoneal washings (73%), omentectomy (53%), and peritoneal biopsy (47%), varied in use. Four (27%) patients recurred, with 1 case of benign tumor, 1 BOT, and 2 serous carcinomas. Median patient follow-up was 45 months. BOTs can be successfully treated with fertility-preserving surgery but demonstrate a non-negligible rate of recurrence. We recommend surgical staging and posttreatment surveillance for all patients with BOT.

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.

Background and objective: Sickle cell disease (SCD) is a genetically inherited disorder that is associated with morbidity and mortality.

Methods: This cross-sectional study was conducted on patients diagnosed with SCD to evaluate the knowledge, attitude, and practice of patients/guardians using a pretested questionnaire.

Results and discussion: Of the 111 participants, 56 (50.4%) were male. Forty-five participants reported SCD as a hereditary disease, and only 31 (37%) subjects reported that SCD could be prevented. Fourteen (70%) married patients reported that their children had been screened. Ninety-three (84%) children reported fatigue in the past 1 year. Seventy-four of them reported no absence from work/school in the past 1 year. Fifty-seven participants (52%) experienced 1 to 4 episodes of pain in the past 1 year, 62 and the majority (55.86%) of them visited a nearby doctor for the pain episode. Ninety-four participants were taking regular hydroxyurea as medication, and 72% had not missed any dose in the past 1 month, while 14.4% missed 1 to 2 doses in the past 1 month. Only 19 participants (17%) were aware that transplantation was a curative option. The majority (78%) reported undergoing blood and other investigations irregularly in the preceding year.

Conclusions: The knowledge and attitude of patients/guardians regarding the nature of the disease, preventive measures, curative options for transplantation, and screening of family members are low. At the same time, most people are educated. In contrast to the world data, adherence to hydroxyurea is extremely good. Patient and family education and counseling are the needs of the hour.

Purpose: Lumbar puncture is a frequently performed procedure for patients undergoing treatment for acute lymphoblastic leukemia. This brief procedure is frequently performed with sedation in young patients but with only local anesthesia in adults. Adolescent and young adult patients may be cared for by physicians with different training backgrounds and sedation preferences, making the utilization of sedation for lumbar punctures variable among providers. The benefits of sedation for young adults with leukemia undergoing lumbar puncture (analgesia, anxiolysis, safety) must be weighed against the obligate fasting interval, hospital cost, and resource allocation that is required.

Methods: We conducted a survey of pediatric and medical oncologists who care for patients with acute lymphoblastic leukemia to assess their use of sedation for adolescents and young adults undergoing lumbar punctures as part of their cancer therapy. (see Supplemental Digital Content 1, http://links.lww.com/JPHO/A723).

Results: Twenty-six percent of pediatric oncologists and 28% of medical oncologists completed the survey. Pediatric oncologists were more likely to perform lumbar punctures under sedation as compared with medical oncologists. This pattern remained consistent across all patient age ranges surveyed, despite no significant difference in the expected cumulative number of lumbar punctures that a patient was to undergo. Medical oncologists reported topicalization with local anesthetics before lumbar puncture more often than pediatric oncologists.

Conclusion: Sedation practices for lumbar puncture during acute lymphoblastic leukemia treatment varies by specialty of treating oncologist.

Leukemia symptoms occurring in the first 4 weeks of infancy are known as congenital leukemia. We present a case of congenital leukemia in a full-term neonate manifesting at birth with a grossly distended abdomen due to a large abdominal mass. Ultrasonography of the abdomen showed a large abdominal mass originating from the liver. Congenital leukemia was suspected based on the very high total leukocyte counts and the presence of blast cells in the peripheral blood smear, which was confirmed by bone marrow aspiration. The bone marrow aspirate smear showed 42% blast cells. Due to overwhelming sepsis, the baby died at the neonatal intensive care unit on day 4 after birth. This report highlights the atypical presentations of congenital leukemia in the neonatal period.

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.

Childhood cancers, with leukemia at the forefront, comprise 97% acute leukemia and 3% chronic leukemia, with 75% of acute leukemias being of lymphoblastic origin. Over the past 50 years, survival rates have witnessed a remarkable increase, progressing from around 10% to achieving cure rates exceeding 90% in certain childhood ALL subgroups with the advent of combined therapies. Between 1999 and 2018, a total of 123 patients diagnosed with B-ALL were initially identified, but after applying exclusion criteria, 105 patients were included in the evaluation, who were treated with COG protocols at our center. The mean follow-up duration for patients was determined to be a median of 74 months (min to max: 2 to 228 months). When the cases were evaluated at the end of the study, 59 of 59 individuals in the standard risk group (100%), 21 of 26 individuals in the high-risk group (80.7%), and 14 of 20 individuals in the very high group (70%) were alive. Patients were categorized into 4 groups based on the methotrexate (MTX) doses they received during Phase 3 and Phase 5 of treatment. Event-free survival and overall survival were evaluated among these groups. It was observed that patients in the standard-risk group had significantly higher event-free and overall survival rates. However, no significant difference was found in survival rates when evaluated based on the treatment groups each risk group received by the patients.

Kaposiform lymphangiomatosis (KLA) is a rare and aggressive subtype of complex lymphatic anomalies (CLA), characterized by abnormal lymphatic proliferation leading to distinct clinical manifestations. Despite the complexity of this condition, there is no established standard therapy, and treatment options such as sclerotherapy, laser therapy, and surgery remain variably effective and are limited to symptom management rather than curative. Sirolimus, an mTOR pathway inhibitor, has shown promise as a primary therapy, particularly in patients without a driver mutation. However, in some instances, the genetic landscape of KLA has revealed somatic mutations in the RAS-MAPK pathway, most notably the NRAS variant (c.182A>G, p.Q61R), representing a potential therapeutic target. We present a case of a 4-year-old male who presented with pericardial and pleural effusions without notable coagulopathy found to harbor an NRAS p.Gln61Arg gene mutation, diagnosed through next-generation sequencing (NGS) analysis. Initial therapy with sirolimus failed to provide optimal benefit with persistent pleural effusion. Subsequent treatment with the MEK inhibitor trametinib led to significant clinical improvement, evidenced by the resolution of effusions and removal of the chest tube. In the short term, no significant adverse effect was reported. Our findings underscore the value of genomic profiling in guiding personalized treatment strategies for rare and complex diseases presenting like KLA. This case highlights the potential of targeted therapies, such as trametinib, in improving clinical outcomes for patients with disease with activating NRAS variants, emphasizing the importance of ongoing research to validate and expand these therapeutic approaches in the management of vascular anomalies.