1/948. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality. ( info) |
2/948. Therapy-related myelodysplastic syndrome in adults with neurofibromatosis. Although an increased risk of hematologic malignancies in children with Neurofibromatosis-1 (NF-1) is well established, whether adults with NF-1 have an increased risk of such malignancies is unclear. We currently describe two adult patients with NF-1 who rapidly developed secondary myelodysplastic syndromes with abnormalities of chromosome 7 following chemotherapy for AML. We propose that adults with NF-1 also have abnormalities of hematologic progenitor cells. ( info) |
3/948. Untreated chronic lymphocytic leukemia concurrent with or followed by acute myelogenous leukemia or myelodysplastic syndrome. A report of five cases and review of the literature. Although it has been known that patients with chronic lymphocytic leukemia (CLL) have a higher frequency of second malignant neoplasms, the development of acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) in these patients is extremely rare. Most reported cases have been therapy-related. In this article, we report the clinical and immunophenotypic features of 5 cases of untreated CLL concurrent with or followed by the development of AML or MDS. All 5 patients were men, with ages ranging from 57 to 87 years (mean, 73.8 years). Four patients had AML and 1 patient had refractory anemia with ringed sideroblasts. In the 4 cases of AML and CLL, 2 distinct cell populations (i.e., myeloblasts and lymphocytes) were identified morphologically and/or immunophenotypically. Our findings support that this rare concurrence of AML or MDS and untreated CLL may represent 2 separate disease processes. ( info) |
4/948. Clinical outcome in three patients with myelodysplastic syndrome showing polyclonal hematopoiesis. The clinical outcome of 3 myelodysplastic syndrome (MDS) patients with polyclonal hematopoiesis is reported. All patients were heterozygous for the phosphoglycerate kinase (PGK) gene. The presence of polyclonal hematopoiesis was determined by the X-chromosome-linked restriction fragment length polymorphism-methylation method using the PGK gene as a marker. The patients were initially diagnosed as having refractory anemia (RA), RA with ring sideroblasts (RARS), and RA with an excess of blasts (RAEB), respectively. Their pancytopenia persisted during the follow-up period of 11.4 years for the RA patient, 19.5 years for the RARS patient and 0.8 years for the RAEB patient. Although the RARS patient continues to be in good health, leukemic transformation occurred in the other 2 patients. A karyotype change from 46,XX to 45,XX,t(3;21),-7 was observed at the time of disease progression in the RA patient. The coexistence of a monoclonal MDS clone and normal bone marrow cells is thought to be the most probable reason for the polyclonal hematopoiesis of these patients. ( info) |
5/948. Spontaneous remission of anemia associated with a myelodysplastic syndrome with disease evolution into a myeloproliferative state. A red cell transfusion-dependent patient with a myelodysplastic syndrome had progression into a myeloproliferative state with thrombocytosis. At the same time, the patient became transfusion independent, and a subsequent bone marrow examination revealed a previously undetected loss of chromosome 7. The patient remains well with control of thrombocytosis by anagrelide therapy. ( info) |
6/948. An unusual cutaneous manifestation of myelodysplastic syndrome: "pseudo-Koebner phenomenon". An unusual and hitherto unreported complication of myelodysplastic syndrome is reported: the "pseudo-Koebner phenomenon." The skin lesions were characterised by exuberant "fleshy" masses at the sites of intravenous cannulation and skin trauma, and by histological evidence of chronic inflammation with focal necrosis and abscess formation. No evidence of dermal infiltration by malignant haemopoietic cells was seen. The exact aetiopathology of the phenomenon is unclear but an inappropriate and exaggerated inflammatory response owing to aberrant mediator mechanisms that are known to occur in some cases of myelodysplastic syndrome may be implicated. ( info) |
7/948. Pure red cell aplasia evolving through the hyperfibrotic myelodysplastic syndrome to the acute myeloid leukemia: some pathogenetic aspects. The authors report a 58-year-old female who originally presented with acquired pure red cell aplasia (PRCA). At diagnosis, the karyotype was normal, the serum erythropoietin level was highly elevated and no T-cell mediated inhibition of erythropoiesis was demonstrated in coculture studies. Conventional immunosuppressive therapy proved ineffective. A year later a diagnosis of hyperfibrotic myelodysplastic syndrome was assessed. The sequential bone marrow examinations in the course of the three years showed a progressive increase in bone marrow fibrosis, erythroid hyperplasia and dysmegakaryocytopoiesis, terminating in the acute myeloid leukemia. This sequence of the events included the appearance of del(5)(q13q33), four years after setting a diagnosis of PRCA. The authors suggest that the absence of both cytogenetic abnormality and the signs of dyshematopoiesis at the diagnosis of PRCA does not exclude ultimately a "clonal" category of the disease. Thus, repeated hematological and cytogenetical reevaluations are recommended. ( info) |
| The association of an acute reversible encephalopathy with transient occipital lobe abnormalities on imaging studies is well known. This condition has been called reversible posterior leukoencephalopathy syndrome. The clinical presentation usually includes seizures, headache, altered mental status, and blindness, often associated with hypertension and immunosuppressants. The authors discuss a two-year-old male with down syndrome who presented 2 months after allogeneic bone marrow transplantation with severe oculogyric crisis, without other complaints. The patient was being treated for hypertension and was receiving cyclosporine for prophylaxis of graft-vs-host disease. A computed tomography scan of the head revealed marked bilateral lucencies mainly involving the white matter of the occipital lobes, with a few foci of punctate hemorrhage. The condition improved when cyclosporine was discontinued, but an area of leukomalacia was identified on follow-up magnetic resonance imaging. To the authors' knowledge, oculogyric crisis as a presentation of reversible posterior leukoencephalopathy has not been previously described. Recognizing this association is important, because patients receiving cyclosporine are often receiving other medications that can potentially cause dystonic eye movements, possibly leading to a delay in diagnosis and treatment, which can result in an irreversible neurologic deficit. ( info) |
9/948. Myelodysplastic syndrome with monosomy 7 after immunosuppressive therapy in Behcet's disease. Only few cases of Behcet's and hematological malignancies have been reported until now. We recently observed a 39-year-old female patient with Behcet's disease developing a myelodysplastic syndrome (MDS) FAB subtype refractory anemia with excess of blasts in transformation [RAEB-t] with a monosomy 7 after being treated with cyclosporin A and chlorambucil for several years. This case is reported and the occurrence of hematological malignancies and Behcet's disease is reviewed. ( info) |
10/948. Myelodysplastic syndrome and associated skin lesions: a review of the literature. The skin involvement of the myelodysplastic syndrome (MDS) can take the form of either a neoplastic infiltration or various non specific lesions. The occurrence of these lesions may be the presenting feature of the disease (MDS) or may herald its progression to acute leukemia. Recognition and early diagnosis have therapeutic and prognostic significance. ( info) |