Summary:tation in a patient with myelodysplastic transformation of FA, using modified conditioning with 'intermediate' dose BU and CY. We report an 11-year old female with myelodysplastic (refractory anemia with excess of blasts) presentation of Fanconi anemia. After failure of initial chemotherapy with low doses of 6-mercaptopurine and prednisolone Case report she underwent allogeneic bone marrow transplantation (BMT) from her HLA-matched sibling. BusulfanAn 11-year-old Caucasian girl of Ouzbeck origin was referred to our institute in November 1994 with a 9 month 8 mg/kg and cyclophosphamide 40 mg/kg were used as conditioning. The post-transplant course was uneventful history of fever and anemia requiring several red cell transfusions. She was the seventh child of eight siblings. Her with fast trilineage engraftment and mild cutaneous acute GVHD. She is alive 17 months after BMT with full parents were second cousins. Two of her older sisters died of aplastic anemia. On admission, physical examination hematological reconstitution without evidence of MDS. Keywords: bone marrow transplantation; Fanconi aneshowed several 'café-au-lait' spots and micro-ophthalmy. Her height was 136 cm (−1.5 s.d.), weight 31 kg (−1 s.d.). mia; myelodysplastic transformationComplete blood count showed Hb 62 g/l, RBC 2.2 × 10 12 /l MCV 87 fl, WBC 1.1 × 10 9 /l with 6% granulocytes, 20% monocytes, 74% lymphocytes and 18 × 10 9 /l platelets. Fanconi anemia (FA) is a rare autosomal recessive disease, Bone marrow aspiration from two sites (sternum and poscharacterized by developmental malformations, bone marterior iliac crest) revealed markedly reduced cellularity with row hypoplasia 1 and frequent development of clonal hemo-9-20% blast cells, 30% myeloid cells, 20% monocytes, poietic abnormalities -myelodysplasias and nonlympho-23% erythroid cells, and 10% lymphocytes, respectively. cytic leukemias.2,3 The treatment of choice for bone Morphologically, the blast cells appeared to be monoblasts. marrow failure in FA is allogeneic bone marrow transplanCells of the myeloid line showed unequivocal dysplastic tation from an HLA-compatible sibling. One of the most features: hypogranularity, nuclear hypersegmentation, successful conditioning regimen combines low-dose cyclocellular gigantism, cytoplasmic vacuolation. Megaphosphamide (CY) and low-dose thoracoabdominal karyocytes were present in sufficient numbers, but were irradiation (TAI) and leads to approximately 75% long-term severely dyspoietic with mononuclear and microforms. survival rate.4 However, for patients with FA, developing Dyserythropoiesis was not present. On trephine biopsy, leukemic or myelodysplastic transformation, results of bone cellularity of the bone marrow was decreased to 5-30% marrow transplantation are much less encouraging with less in different areas with predominance of lymphocytes and than half of patients surviving.5 Preparative regimens for monocytes, reduction of both myeloid and erythroid linthese conditions have included conventional dose TBI and eages, and cl...
Summary:We describe a 5-year-old girl with Ph(؉) CML who received a cord blood transplant in a second accelerated phase after a very early lymphoid blast crisis. She was induced into CR by ALL-directed chemotherapy and then maintained with IFN-␣2b together with weekly rotational chemotherapy. Nineteen months after diagnosis, her mother gave birth to an HLA-compatible sibling, whose cord blood was cryopreserved. The patient's second acceleration occurred 22 months after the CML diagnosis Allogeneic hematopoietic cell transplantation is at present the only potentially curative therapy in patients with CML. 1,2 This type of transplantation is clearly superior to conventional therapy and hence should be considered when treating any child with this disease; however, only a minority of patients have HLA-compatible related donors, and a patient belonging to an ethnic group that is not widely represented in the registries is even less likely than most patients to find a perfectly matched unrelated donor (MUD). 3 Furthermore, marrow delivery can be difficult for centers not accredited by the international registries network. For children experiencing blast crisis who lack a related donor, three goals emerge -to return the disease to its chronic phase, to slow further disease progression and to explore the possibility of performing an allogeneic stem cell transplant. If the first two goals are met, the search for MUD can begin, and if the search is successful, a transplant can be performed. Alternatively, the patient's mother may opt to plan a pregnancy, which, assuming HLA compatibility of the fetus, will allow for the collection of cord blood for transplantation. We report a successful related cord blood transplant in a child with CML who had rapidly progressed to blast crisis. Case reportA 5-year-old girl, the only child of young parents, was admitted in May 1995 with a 2-week history of low-grade fever, leg pain and swelling of the feet. Physical examination revealed inguinal, submaxillar and axillar lymph nodes, enlarged up to 2 cm, moderate hepatomegaly ϩ2 cm and redness, pain and swelling of the right ankle joint. No splenomegaly was present. Her CBC revealed Hb 98 g/l, platelets 533 ϫ 10 9 /l, WBC 72 ϫ 10 9 /l, myeloblasts 3%, promyelocytes 6%, myelocytes 6%, metamyelocytes 10%, bands 9%, segmented 50%, eosinophils 5%, basophils 7%, monocytes 1%, lymphocytes 3%. Bone marrow aspirate showed blast cells 5%, increased to 73% myeloid lineage with myeloblasts 9% and promyelocytes 4%. BM cytogenetics demonstrated Ph chromosome in 100% metaphases. A diagnosis of CML was made and, in the absence of a matched donor, hydroxyurea 50 mg/kg b.w. per day was initiated; however, the patient's clinical state continued to deteriorate, as indicated by her high fever, polyarthritis and splenic enlargement. One month later, 46% blast cells emerged in the peripheral blood which expressed TdT, CD10, CD19, CD22 and HLA DR, whereas T-lineage and myeloid markers were negative. This confirmed a B-lineage blast crisis of CML, and the patien...
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