1/8. Acute parvovirus B19 infection mimicking juvenile myelomonocytic leukemia.An 11-month-old patient with parvovirus infection mimicking juvenile myelomonocytic leukemia (JMML) is presented. The patient's history, presenting physical and laboratory features, was suggestive of JMML and consisted of fever, hepatosplenomegaly, lymphadenopathy, desquamation of the skin, anemia, leukocytosis with monocytosis and trilineage dysplastic findings of the peripheral blood and bone marrow. However, positive IgM titers for parvovirus B19 followed by seroconversion, negative cytogenetics and the benign follow-up of the patient suggested acute parvovirus infection as an etiologic factor for development of dysplastic features in the patient, and thus is recommended for consideration in the differential diagnosis of MDS. Although parvovirus B19 infection mimicking MDS has previously been shown in two patients with spherocytosis and one with subclinical immune deficiency; to our knowledge, the present report is the first describing the association of acute parvovirus B19 infection with dysplastic features mimicking myelodysplasia (MDS) in a child without a demonstrable underlying hematolymphoid disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. Bone marrow aspirates as part of routine donor assessment for allogeneic blood and marrow transplantation can reveal presence of occult hematological malignancies in otherwise asymptomatic individuals.Pre transplant screening work-up of donors for allogeneic blood and marrow transplantation is essential in an effort to minimize risks to the recipient and protect the donor. At Princess Margaret Hospital, every potential donor is screened with a bone marrow aspirate. The case histories of three asymptomatic potential donors who presented within 1 year with normal complete blood counts, history and physical examination are presented. A 65-year-old male patient was diagnosed with smouldering multiple myeloma, a 72-year-old male patient with chronic lymphocytic leukemia and a 42-year-old male patient with myelodysplastic syndrome. bone marrow examination led to the diagnosis in each one of these cases. Of note is that each of the potential donors was discovered to have the same disease as the transplant recipient. in vitro clonogenic hemopoietic progenitor assays were compared to those of 20 normal volunteers. Inferior growth of hemopoietic progenitor colonies in all three was noted. In conclusion, particularly in older donors and donors with potential for familial malignancies, more screening investigations including bone marrow aspiration may be reasonable to investigate for occult hematological malignancies prior to stem cell donation. Clonogenic assays can contribute to detect hemopoietic abnormalities pre transplant.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/8. Granulocytic sarcoma of the ovotestis: an association of myelodysplastic syndrome and hermaphroditism.Granulocytic sarcomas are extramedullary tumors (EMD) of malignant myeloid precursor cells. EMD or granulocytic sarcoma of ovary is rare disease. A 15-year-old girl had complaints of abdominal pain and weight loss for 3 months. On physical examination, there were hepatosplenomegaly and a painless mass under the umbilicus. breast development was grade II. There was no clitoris hypertrophy. Her labia majora were separate and vagina hypoplastic. Hemoglobin level was 9.3 g/dl, white blood cells count 2.8 x 10(6)/1, platelet count 31.6 x 10(9)/1. There were dysplastic features in the blood and bone marrow cells. There were 10 and 22% blasts in the peripheral blood smear and bone marrow, respectively. The levels of serum follicle stimulating and luteinizing hormones were high. An inguinal mass (diameter 9.5 x 7.6) cm was detected on computed tomography. The histopathological diagnosis of this was obtained from laporascopy was composed of ovotestis and there was marked blastic infiltration in this ovotestis which had myeloid markers on flow cytometry. In the immunohistochemical analyses of ovotestis and bone marrow, blasts were positive for LCA, CD-13, CD-33 and CD 68. The cytogenetic analysis of the bone marrow shaved 46 XY karyotype. No response was achieved with combination chemotherapy and the patient died from progressive leukemia. Here we report a rare patient with myelodysplastic syndrome, EMD and hermaphroditism. To our knowledge this is the first case of MDS, EMD and hermaphroditism.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/8. Chromosome 7 long arm deletion breakpoints in preleukemia: mapping by pulsed field gel electrophoresis.Chromosome 7 long arm deletions (7q-) are recurring chromosome abnormalities in leukemic bone marrow cells. In four patients we have previously localized the breakpoints in band 7q22 between the erythropoietin (EPO) and plasminogen activator inhibitor type 1 (PLANH1) genes that map 3 cM apart. The pro alpha 2(I) collagen (COL1A2, in band 7q22) and T cell receptor beta chain genes (TCRB, in band 7q35) have been found undeleted in one patient with an interstitial deletion. Pulsed field gel electrophoresis was used to map the breakpoints more accurately in two patients with a 7q- chromosome. The results suggested that lymphocytes and granulocytes give identical restriction patterns with several enzyme-probe combinations, and that a breakpoint possibly was within 195 kb of EPO in one patient but not in another. The gene order cen-COL1A2-EPO-breakpoint-tel was suggested but physical linkage between COL1A2 and EPO was not found. A new putative TCRB restriction fragment length polymorphism or inherited methylation site was detected.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/8. Refractory anemia with an excess of blasts developed into overt leukemia with leukothrombocytosis.A 72-year-old man with refractory anemia with an excess of blasts developed overt leukemia with leukothrombocytosis. Hematological and physical findings closely resembled those of an accelerated or blastic phase of chronic myelocytic leukemia. The cytogenetic anomaly of i(17q) was observed during the course. The present case is suggestive of the diversities of myelodysplastic syndromes (MDS), including relationships between MDS and myeloproliferative disorders (MPD) and acute leukemia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/8. Deletion of chromosome 20q in myelodysplasia can occur in a multipotent precursor of both myeloid cells and B cells.Deletions of the long arm of chromosome 20 are associated with several myeloid malignancies and, in particular, with myeloproliferative disorders and myelodysplastic syndromes (MDS). Together with deletions of chromosome 5q and chromosome 7q, chromosome 20q deletions have previously been thought to be restricted to myeloid cells in patients with MDS. We report here that deletion of chromosome 20q in MDS can arise in a multipotent precursor of both myeloid cells and B cells. Clonal Epstein-Barr virus (EBV)-transformed cell lines, both with and without a 20q deletion, have been isolated from a patient with MDS. Moreover, these cell lines have been shown to provide a useful physical mapping tool and have been used to confirm the interstitial nature of the 20q deletion. Microsatellite polymerase chain reaction (PCR) and PCR analysis of PGK gene methylation have been used to study highly purified populations of peripheral blood cells. The 20q deletion was detectable by microsatellite PCR in peripheral blood granulocytes and monocytes but not in B cells or T cells. Clonality of the different lineages followed the same pattern as the 20q deletion. This represents the first report in which a chromosome abnormality associated with MDS has been immortalized in an EBV-transformed lymphoblastoid cell line. Furthermore, our data show that patients with apparent myeloid restriction of a chromosome deletion may in fact have a disease arising in a multipotent cell with both myeloid and lymphoid potential.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/8. The pathophysiology of pure red cell aplasia: implications for therapy.To determine the utility of marrow culture in defining the natural history and therapeutic response of pure red cell aplasia we have studied 37 patients. patients were evaluated at the University of washington before specific therapies (n = 21) or at the time of treatment failure in = 16). Evaluation included a medical and drug exposure history, a physical examination, a chest x-ray or computed tomography to rule out thymoma, lymphocyte immunophenotype studies, anti-nuclear antibody and rheumatoid factor determinations, marrow cytogenetics, and marrow progenitor cell cultures. Retrospective Southern analyses to detect human parvovirus B19 was performed in the 27 patients for whom sera was stored. Clinical follow-up was obtained to document therapeutic responses. Normal burst forming unit-erythroid (BFU-E) growth (>30 bursts/10(5) marrow mononuclear cells [MMNC]) in culture proved an outstanding predictor of clinical response, as 27 of 29 individuals with normal frequencies of erythroid bursts in culture responded to immunomodulating therapies (sensitivity 96%, specificity 78%, predictive value 93%, P = .0001 with two-tailed chi square analysis). overall, 28 patients responded to either immunomodulating therapies or drug withdrawal. Twenty-four patients obtained a normal hematocrit (complete response [CR] and 4 additional patients became transfusion independent (partial response). Although responding patients often required several therapies, 20 of 24 (83%) patients who obtained a CR have sustained a normal hematocrit without maintenance therapy at the time of last follow-up (median 5 years). In contrast, of 8 patients with poor in vitro BFU-E growth (<6 bursts/10(5) MMNC), 7 failed to respond to any therapy and all died (median survival time 17 months). Our data suggest that in individuals, from whom BFU-E mature appropriately in culture, immunosuppressive drugs should be used sequentially until a CR is obtained and a durable remission is the expected outcome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/8. Myelodysplastic syndrome in a child with a history of medulloblastoma.We present a case of myelodysplastic syndrome (MDS) following treatment for medulloblastoma. The tumor was diagnosed at 15 years of age and managed with surgery, craniospinal radiation and a triple-drug regimen [chloroethylnitrosourea (CCNU), vincristine (VCR), procarbazine]. Fifteen months after the completion of therapy, the patient developed MDS with monosomy 5 and monosomy 7 on chromosome analysis of bone marrow cells. Two weeks later, MDS evolved into acute myeloblastic leukemia (AML). Therapy-related MDS or AML may be a complication for patients with past brain tumors. Therefore, they should be carefully followed up by regular physical examinations and complete blood counts.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |