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  • 1.
    Pramanik-Jonsson, Lotta
    et al.
    Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet; Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital.
    Borssen, Magnus
    Umeå University, Faculty of Medicine, Department of Medical Biosciences. Section of Pediatric Hematology and Oncology, Child and Adolescent Medical Center, University Hospital of Umeå, Umeå, Sweden.
    Vonlanthen, Sofie
    Department of Clinical Immunology and Transfusion Medicine, Medical Diagnostics Center, Karolinska University Hospital, Stockholm, Sweden.
    Nilsson, Frans
    Umeå University, Faculty of Medicine, Department of Medical Biosciences. Section of Pediatric Hematology and Oncology, Child and Adolescent Medical Center, University Hospital of Umeå, Umeå, Sweden.
    Sundin, Mikael
    Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet; Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital.
    Severe thrombocytopenia due to bone marrow failure in children with dyskeratosis congenita does not respond to eltrombopag treatment: case series2024In: Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, E-ISSN 1536-3678, Vol. 46, no 1, p. 57-62Article in journal (Refereed)
    Abstract [en]

    Dyskeratosis congenita is a rare inherited disease with classic cutaneous symptoms, sometimes accompanied with more severe extracutaneous manifestations such as bone marrow failure, which can be lethal. Eltrombopag is an orally available thrombopoietin receptor agonist in clinical use for increasing platelet levels in patients with immune thrombocytopenia and aplastic anemia. Here, 3 pediatric patients with dyskeratosis congenita are presented with varying disease severity, in which off-label eltrombopag treatment had no clinical effect on bone marrow failure. This, in addition to the negative results in a previous case report, supports the preclusion of eltrombopag use in dyskeratosis congenita.

  • 2. Ranta, Susanna
    et al.
    Nilsson, Frans
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
    Harila-Saari, Arja
    Saft, Leonie
    Tani, Edneia
    Söderhall, Stefan
    Porwit, Anna
    Hultdin, Magnus
    Umeå University, Faculty of Medicine, Department of Medical Biosciences, Pathology.
    Noren-Nyström, Ulrika
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
    Heyman, Mats
    Detection of Central Nervous System Involvement in Childhood Acute Lymphoblastic Leukemia by Cytomorphology and Flow Cytometry of the Cerebrospinal Fluid2015In: Pediatric Blood & Cancer, ISSN 1545-5009, E-ISSN 1545-5017, Vol. 62, no 6, p. 951-956Article in journal (Refereed)
    Abstract [en]

    Background: Therapy directed at the central nervous system (CNS) is an essential part of the treatment for childhood acute lymphoblastic leukemia (ALL). The current evaluation of CNS involvement based on cytomorphological examination of the cerebrospinal fluid (CSF) alone is not as sensitive with low cell counts as flow cytometric immunophenotyping (FCI) of the CSF. However, the importance of low CSF blasts counts at diagnosis is uncertain. We sought to determine the significance of FCI in relation to conventional morphological examination.

    Procedure: We retrospectively compared FCI of the CSF with cytomorphology at diagnosis or relapse of childhood ALL. All patients were diagnosed 2000–2012 in Stockholm or Umeå, Sweden. Clinical data were collected from medical records and the Nordic leukemia registry. Treatment assignment was based on morphological examination only.

    Results: The cohort was comprised of 214 patients with ALL. CSF involvement was detected by both methods in 20 patients, in 17 by FCI alone, and in one patient by cytomorphology alone. The relapse rate was higher for patients with negative cytology but positive FCI compared to those without CNS involvement using both methods. The difference was especially marked in the current protocol. However, none of the patients with negative CSF cytology but positive FCI had a CNS relapse.

    Conclusions: FCI of the CSF increased the detection rate of CNS involvement of ALL approximately two times compared to cytomorphology. Patients with low-level CNS involvement may benefit from additional intensified systemic or CNS-directed therapy, but larger studies are needed. 

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