Juvenile myelomonocytic leukemia (JMML) occurs with an incidence of 1.2 per million children a year, and represents 18% to 30% of all myelodysplastic (MDS) and myeloproliferative (MPS) disorders in the age group below 15, being by far the most common MDS/MPS in children younger than 4 years. The only therapeutic approach which results in a definitive cure of patients with JMML is myeloablative chemo-therapy/radio-therapy, followed by allogeneic hematopoietic cell transplantation. Few cases of transformation of JMML in acute lymphoblastic leukemia have been reported. We describe a child with JMML diagnosed at the age of 4 months in whom complete remission was achieved with 13-cis retinoic acid and cytosine-arabinoside and was sustained for 7 years with no maintenance therapy. Ninety-eight months after the diagnosis of JMML was established, overt T-cell leukemia developed. Treatment with acute lymphoblastic leukemia (ALL)-directed chemotherapy induced complete restoration of normal hemopoiesis, but testicular involvement persisted. The patient died after transplantation with unrelated cord blood. This case suggests that JMML is a true stem cell disorder and that stem cell transplantation should be considered, even in patients with a very favorable clinical course.
Immune thrombocytopenia (ITP) is a disease with a heterogeneous clinical manifestation. In the majority of children newly diagnosed ITP is a self-limited benign disorder, while chronic ITP develops rarely. The clinical onset of ITP can occur in very different ways: from nearly invisible skin hemorrhage to severe life-threatening bleeding. Conventional treatments promote a response in most patients, but in a small number of children thrombocytopenia is unresponsive. In this article, we describe our experience of the clinical use of romiplostim in children with severe unresponsive newly diagnosed ITP. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. The severity of bleeding decreased significantly after the start of romiplostim therapy in all cases. Durable complete (platelets > 100 × 109 /l) response was achieved in five out of six patients 4 to 8 weeks after starting therapy. Three children have remained in lasting remission for 1 to 3 years after the discontinuation of romiplostim. There were no adverse events associated with romiplostim.
Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by mucocutaneous angiomatose multiple cutaneous venous malformations. Pathogenesis of the BRBNS is caused by the somatic mutations in angiopoietin receptor gene TEK. These mutations cause ligand-independent activation of the tyrosine kinase receptor and the PI3K / AKT pathway and involve the mTOR in the pathological process in a specific way. There are no universally effective methods for treating systemic forms of vascular malformations currently. However, recent numerous reports have shown the advantages of rapamycin, an mTOR inhibitor, as a well-tolerated and effective therapy in patients with vascular abnormalities, in particular with diffuse angiomatose. This article presents a clinical case of a 5-years old patient with a diagnosis of iron deficiency anemia, who has been treated for a long time and received iron supplements therapy without achieving any effect. The diagnosis of Bean's syndrome was established after 5 years from the first clinical manifestation and based on clinical, laboratory and instrumental methods. The cause of iron deficiency anemia was established. It was repeated chronic bleedings from multiple sites of the gastrointestinal mucosa vessels. Prescribed rapamycin therapy allowed to contain gastrointestinal bleeding, to reduce the size of vascular lesions and to prevent the formation of new ones. Parents gave their consent to use information about the child in the article.
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