31/40. Chromosome analysis in hematologic disorders. The leukemias.For two decades, cytogenetic studies have been used to rule in (or out) the philadelphia (Ph1) chromosome associated with chronic myeloid leukemia. Beyond this single purpose, chromosome studies have generally not been utilized in or applied to the practice of hematology-oncology. This report presents male and female patients, teens to 70s in age, with representative hematologic disorders, in whom the cytogenetic findings were useful clinically. These cases illustrate the following principles: (1) hematologic disorders can be characterized by chromosome analysis; (2) chromosome findings help in the diagnosis, prognosis, and treatment of blood diseases; (3) blood and bone marrow samples can be processed routinely for cytogenetic analysis; (4) these samples can be transported long distances from clinic to laboratory; and (5) the contemporary practice of hematology and oncology requires chromosome analysis for fuller evaluation and understanding of hematologic conditions.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
32/40. Preleukemic syndrome in children. Report of four cases and review of literature.Childhood preleukemia, known as a rare condition, was evaluated in four of the authors' cases and in 24 cases from the literature. The required condition was evolution into overt acute leukemia. The children were 5 months to 15 years of age, and the preleukemia period ranged from 2 to 42 months. The symptoms and physical signs were nonspecific. Different kinds of cytopenia were found in the peripheral blood. Twelve children developed ALL and 16 developed AML. The analysis revealed that in childhood there exist two different types of preleukemia: pre-ALL and pre-AML. The age and sex distribution were different, as were the hematological changes. The marrow was usually hypoplastic in pre-ALL but hyperplastic in pre-AML. True hypoplasia in any of the three cell lines was more common in pre-ALL, whereas ineffective thrombopoiesis and normal or increased myelopoiesis were specific for pre-AML. Ineffective erythropoiesis was characteristic of both types. A typical chromosomal change in marrow, seen in pre-AML only, was a missing group C chromosome. The childhood pre-AML resembled adult preleukemia (also pre-AML) in many aspects, whereas the childhood pre-ALL seemed to be a different entity. It might be assumed that all preleukemic conditions do not evolve to overt malignancy. The incidence and true prognosis therefore remain unknown.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
33/40. dyskeratosis congenita: two examples of this multisystem disorder.Two brothers with the X-linked disorder, dyskeratosis congenita, are described. They showed the dermatologic triad of reticular hyperpigmentation, dystrophic nails, and leukoplakia oris as well as the other major feature of this disorder, aplastic anemia. Less common features observed included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulceration. Previously unreported findings were intracranial calcifications and nutmeg-like cirrhotic changes of the liver. These brothers demonstrated that skeletal changes and bony fragility may predate anemia or steroid therapy. Although a dna repair defect is postulated as a possible primary defect, cytogenetic studies revealed no evidence of increased chromosomal breakage.- - - - - - - - - - ranking = 1.2967685525026keywords = breakage (Clic here for more details about this article) |
34/40. Deletion of the long arm of chromosome 11 [46,XX,del(11)(q24.1--qter)].A child who presented at three months of age with pyloric stenosis and pancytopenia was found to have a partial deletion of the long arm of chromosome 11, del(11)(q24.1 qter). Only two previous cases have been described with an apparently identical chromosomal deletion, and both exhibit similar phenotypic features. Other patients with larger deletions of the distal region of the long arm of chromosome 11 show many features in common with these three cases. It is suggested that the region of the long arm of chromosome 11 from band q24.1 to qter may contain the genetic material responsible for the expression of the 11q - phenotype.- - - - - - - - - - ranking = 1.4keywords = chromosome (Clic here for more details about this article) |
35/40. monosomy 7 in a patient with pancytopenia and abnormal erythropoiesis.In 1976, a patient with pancytopenia was found to have a population marrow cells with monosomy of chromosome 7 (45,XY,-7). Over the next 3 years he had continued abnormal hematopoiesis consisting of erythroid hyperplasia, ring sideroblasts, megaloblastic changes, and an increased proportion of myeloblasts. Sequential chromosome studies consistently showed the same abnormality without further karyotypic change. From the present study and comparable cases in the literature, there appears to be a distinct subgroup of patients with myeloproliferative disorders showing dyserythropoiesis with monosomy of deletion of chromosome 7 in the marrow cells.- - - - - - - - - - ranking = 0.6keywords = chromosome (Clic here for more details about this article) |
36/40. Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities.A female infant presented at seven weeks of age with failure to thrive, progressively severe pancytopenia, hypogammaglobulinemia and, mucosal ulceration. bone marrow morphology showed severed megaloblastic changes in the myeloid series with a shift to the left and an increased number of blasts with abnormal morphology. Erythroid precursors and megakaryocytes were markedly decreased. Cytogenetic studies showed marked aneuploidy and increased chromosomal breakage. Treatment with high doses of vitamin B12 resulted in a dramatic clinical response with hematological values becoming normal. The patient's serum showed absence of transcobalamin II, and very little TC I and TC III binding. The patient's parents had only half the lower limits of normal transcobalamin II. QUSO G-32 was used for separation of transcobalamins, and the results were confirmed by Sephacryl S-300. This case illustrates the usefulness of QUSO in the rapid diagnosis of transcobalamin II deficiency.- - - - - - - - - - ranking = 1.2967685525026keywords = breakage (Clic here for more details about this article) |
37/40. pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy.Subacute necrotizing encephalopathy (SNE) or leigh disease is an autosomal recessive disorder associated with various defects of oxidative phosphorylation. Two reports have described the concurrence of SNE with pancytopenia and vacuolation of bone marrow precursors, and have raised the possibility that this symptom complex may be part of a spectrum of diseases which includes Pearson's syndrome (vacuolation of bone marrow precursors, sideroblastic anaemia, exocrine pancreatic dysfunction). We describe a case of Pearson's syndrome in which haematological manifestations antedated progressive neurological deterioration by several years. Cytogenetic studies showed an inverted duplication of chromosome 9 (qh) [inv dup (9) (qh)]. We suggest that cytopenia associated with vacuolation of bone marrow precursors even without clinically apparent central nervous system pathology should prompt consideration of SNE, or related diseases. Conversely, a diagnosis of SNE should prompt evaluation of other organ system functions including bone marrow. Cytogenetic evaluation of other patients with SNE may determine whether the 9 (qh) findings are pathogenetic.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
38/40. pancytopenia with chromosomal fragility: vitamin B12 deficiency.PURPOSE: pancytopenia in children may have many etiologies. Chromosomal abnormalities with pancytopenia is of particular concern because clonal abnormalities indicate a neoplastic process. We describe three children who had vitamin B12 deficiency and who displayed pancytopenia with multiple chromosomal breaks, rearrangements, and deletions consistent with chromosomal fragility. Severe vitamin B12 deficiency is rare in children and should be considered in the differential diagnosis of a child with pancytopenia, dyserythropoiesis, and multiple chromosomal abnormalities. patients AND methods: Three children displayed pancytopenia with dyserythropoiesis in the bone marrow. Routine cytogenetic analyses in all three patients were performed and chromosome breakage study was performed on the peripheral blood of one patient after vitamin B12 supplementation. RESULTS: All three patients had severe vitamin B12 deficiency. Spontaneous chromosomal fragility was seen in routine cytogenetic analyses in all three patients. Vitamin B12 supplementation resolved the pancytopenia in all three patients and spontaneous and diepoxybutane-induced breakage rates in chromosomes were well within normal rates after therapy in one patient. CONCLUSION: The presence of pancytopenia with cytogenetic abnormalities in a child is worrisome. However, careful interpretation of dyserythropoiesis and megaloblastic changes in bone marrow in the aforementioned clinical situation would result in the correct diagnosis of a disorder that is easily cured.- - - - - - - - - - ranking = 2.9935371050053keywords = breakage, chromosome (Clic here for more details about this article) |
39/40. A multimodal approach for diagnosing patients with acute promyelocytic leukaemia.A practical and efficient multi-modal protocol for processing specimens for patients referred with a question of acute promyelocytic leukaemia (APL) is described. The initial analysis comprises haematological evaluation of the bone marrow and peripheral blood smears using Romanowsky-stained slides. Concomitantly, a sample is processed for direct preparation as well as 1- and 2-day unstimulated cultures using conventional cytogenetic techniques. communication between the cytogenetic and haematological laboratories is of critical importance so that the optimal conditions for culture (i.e. longer term versus unstimulated overnight and direct preparations) for the cytogenetic detection of chromosome rearrangements can be selected. The likelihood of detecting the characteristic translocation of APL, t(15;17), is enhanced in a longer term culture versus unstimulated overnight and direct preparations. Fluorescent in situ hybridization (FISH), utilized as an adjunct to GTG-banding, was found to be a powerful technique for detecting the t(15;17), especially where the GTG-banded preparation was of suboptimal quality. Results of five recent representative cases of APL are described to illustrate a practical approach which can be adapted by any clinical pathology laboratory.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
40/40. Acute myeloblastic leukemia associated with trisomy 8 and translocation 8;21 in a child with down syndrome.The present study examined an 11-year-old girl with down syndrome who suffered from acute myeloblastic leukemia (AML) preceded by preleukemic pancytopenia. Chromosomal analysis of leukemic cells revealed a chromosome change at t(8;21) and trisomy 8 associated with constitutional trisomy 21. Treatment with antineoplastic agents led to complete remission.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
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