Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads.

Hematological involvement (HI) is one of the life-threatening risk organs (ROs) in Langerhans cell histiocytosis (LCH). Lahey criteria have defined HI since 1975 as hemoglobin <10 g/dL and/or platelets <100 G/L and/or leukopenia (white blood cell count <4 G/L) and/or neutrophils <1.5 G/. Among the 2313 patients <18 years old enrolled in the French National Histiocytosis Registry (1983-2023), 331 developed HI (median age at diagnosis: 1 year); median follow-up lasted 8.1 years. Bone-marrow aspirate smears and biopsies may show reactive histiocytes, hemophagocytosis or myelofibrosis but never confirm the diagnosis. Fifty-eight (17%) patients developed macrophage-activation syndrome, sometimes related to acute Epstein-Barr virus or cytomegalovirus infection, sometimes months before typical LCH manifestations appeared. Hemoglobin and platelet thresholds for initiating transfusion(s) appear to accurately distinguish 2 groups: mild HI (MHI; >7 g/dL and >20 G/L, respectively) and severe HI (SHI; ≤7 g/dL and ≤20 G/L). Each entity has different organ involvements, laboratory parameters, mutational status, blood BRAFV600E loads, drug sensitivities and outcomes (respective MHI and SHI 10-year survival rates: 98% and 73%). Since 1998, mortality first declined with combination Cladribine-cytarabine therapy, and then with mitogen-activated protein-kinase inhibitors since 2014. Forty-one (12%) patients developed neurodegenerative complications that have emerged as a risk for long-term survivors. These results suggest limiting the HI-RO definition to SHI, as it encompasses almost all medical complications of LCH. Future clinical trials might demonstrate that targeted-therapy approaches would be better adapted for these patients, while MHI can be managed with classic therapies.

Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis.

BACKGROUND: The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease. OBJECTIVE: To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington disease patients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy. MATERIALS AND METHODS: We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Automatic segmentation of MRI images of the cerebrum and cerebellum was performed and volumes of cerebral substructures and cerebellar lobules of juvenile Huntington disease patients were compared to those of 30 normal gender- and age-matched controls. Juvenile Huntington disease segmented volumes were compared to those of age-matched controls by using a z-score. RESULTS: Three cerebral substructures (caudate nucleus, putamen and globus pallidus) demonstrated a reduction in size of more than three standard deviations from the normal mean although it was not salient in one of them at clinical reading and was not diagnosed. The size of cerebellum lobules, cerebellum grey matter and cerebellum cortex was reduced by more than two standard deviations in the three patients. The cerebellar atrophy was predominant in the posterior lobe. CONCLUSION: Our study sheds light on atrophic cerebral and cerebellar structures in juvenile Huntington disease. Automatic segmentations of the cerebellum provide patterns that may be of diagnostic interest in this disease.

[Chemotherapy-induced nausea and vomiting in pediatric oncology patients: 2023 recommendations from the Supportive Care Committee of the French Society of Cancer in Children and Adolescents]. / Nausées et vomissements chimio-induits en oncohématologie pédiatrique : actualisation 2023 des recommandations du comité soins de support de la SFCE.

Chemotherapy-induced nausea and vomiting (CINV) are frequent and dreaded side effects in cancer treatments. CINV has a major impact on patient's condition and quality of life. Prophylaxis is tailored to patient's profile and the emetogenic level of their chemotherapy. The aim of this study is to update the recommendations for CINV prevention and management in pediatric onco-hematology for use in France, by adapting the guidelines of the Pediatric Oncology Group of Ontario (POGO). Clinical practice guideline adaptation is a recognized method for tailoring existing clinical practice guidelines to local context. A multidisciplinary French-speaking panel was formed to discuss about POGO guideline recommendations for the acute and delayed phases, breakthrough, refractory and anticipatory CINV and the evidence supporting them. Panel members were asked whether they wanted to adopt, modify or reject each of the POGO guideline recommendations. Panel members translated each recommendation and adapted recommendations for an implementation in France. Their acceptance required agreement at least 80 % of panel members. Algorithms and tables were created, listing all the recommendations and providing a better overview for decision-making process adapted to the patient's profile. These recommendations should be reviewed for implementation at French institutions caring for pediatric cancer patients and once implemented, the rates of adherence to recommendations and CINV control should be reported.

Cyberlindnera jadinii (teleomorph Candida utilis) candidaemia in a patient with aplastic anaemia: a case report.

INTRODUCTION: We present what is believed to be the first report of candidaemia caused by Cyberlindnera (Pichia) jadinii (teleomorph of Candida utilis) in a patient with an aplastic anaemia. CASE PRESENTATION: The patient, a 21-year-old male, presented with hepatic cytolysis, cutaneous and pulmonary involvement, and septic shock. Cyberlindnera jadinii was identified by aerobic blood culture and MS. The patient initially received multiple and combined antifungal therapy, but continued to have persistent skin lesions and fever. He was successfully treated by emergency haploidentical haematopoietic stem cell transplantation, combined with triple antifungal therapy and supportive care. CONCLUSION: Cyberlindnera jadinii, teleomorph of Candida utilis, which is not usually invasive, can lead to an opportunistic invasive infection in unhealthy adult patients. For treatment of the invasive candida infection, it is necessary to combine antifungal therapy and supportive care.