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R Billström

Publications and source records attributed to R Billström.

At least 55 records · Page 3Linked to original sources
PubMed1988

Application of megakaryocytic morphology in diagnosing 5q- syndrome.

In order to evaluate the diagnostic importance of the megakaryocytic morphology in the 5q- syndrome we studied the bone marrow from 48 unselected patients with myelodysplastic syndromes (MDS). 44 cases were primary and 4 secondary to cytostatic drug treatment or irradiation. There were 24 cases with chromosome anomalies, of whom 10 had del (5q). 4 of these had refractory anaemia (RA) with 5q- as the sole anomaly (group A), 2 had RA with 5q- and additional chromosome anomalies consisting of trisomy 8 (group B); 3 patients had RA with excess of blasts (RAEB) and complex, karyotypic changes also including 5q- (group B). Changes of the same type were found in 1 case of multiple myeloma with secondary MDS. All 6 RA patients with 5q- had characteristic megakaryocytes. More than 50% of the cells had no more than 2 nuclear segments, and predominantly had a diameter of 30 micron or more. No other patient with RA showed this picture. Only 1 patient with RAEB 5q- in group B had the same megakaryocytic changes. We conclude that diagnosis of a 5q- syndrome may be strongly suspected in cases of RA with these bone marrow changes. In cases of RAEB 5q- group B the bone marrow examination did not reveal the same consistent changes.

Adolescent↗
PubMed1988

Chromosomes, Auer rods and prognosis in acute myeloid leukaemia.

We have analysed survival time and complete remission (CR) rate after induction treatment including cytosine arabinoside and an anthracycline antibiotic in 94 patients with acute myeloid leukaemia, comparing the results in four different groups according to the presence or absence of Auer rods and the presence (AN/AA) or absence (NN) of abnormal cytogenetic clones at diagnosis. The finding of Auer rods was a positive prognostic factor with respect to CR rate (p less than 0.02) and survival time (p less than 0.02) irrespective of the cytogenetic pattern. The AN/AA pattern was associated with lower CR rate (p less than 0.05) and 6-months survival (p = 0.05) in the 49 Auer rod-negative patients. In the 45 patients with Auer rods, no significant differences in CR rate or survival were seen between AN/AA and NN patients. We conclude that the negative prognostic impact of chromosome abnormalities in acute myeloid leukaemia might be restricted to Auer rod-negative disease.

Actuarial Analysis↗
PubMed1987

Tetraploid karyotype (92,XXYY) in two patients with acute lymphoblastic leukemia.

Tetraploid karyotypes without structural chromosome abnormalities were found in approximately 50% of the bone marrow cells in two patients with acute lymphoblastic leukemia with L2 morphology and "null cell" immunophenotype. Strict tetraploidy (4n = 92) has not been reported as the sole karyotypic rearrangement in bone marrow neoplasia, but may represent a previously unrecognized cytogenetic leukemia subtype.

Child, Preschool↗
PubMed1987

Late appearing 5q--marker in refractory anemia.

A patient with myelodysplasia indistinguishable from the 5q--syndrome is described. No clonal chromosome abnormalities were detected in the total of 120 bone marrow cells initially examined. At the next sampling, 3 years later, del(5q) was present in all analyzed metaphases. These findings indicate that del(5q) may be only one of the pathogenetically important events in the 5q--syndrome, and that submicroscopic changes may precede the visible chromosomal rearrangement.

Anemia, Refractory↗
PubMed1987

Cytogenetic analyses in 89 patients with secondary hematologic disorders--results of a cooperative study.

Eighty-nine patients who developed a secondary hematologic disorder and were studied with chromosome analysis were collected from nine institutions. The results of the study confirmed previous findings, in particular, -5/5q-, -7/7q-, -17, and +21 were the most frequently encountered aberrations. Moreover, a t(1;7)(p11;p11) was reported in four cases and consistent chromosome abnormalities were observed in a small group of patients who had been treated only with surgery, but not with chemo- or radiotherapy for a previous tumor.

Acute Disease↗
PubMed1987

Normal bone marrow karyotype in acute leukemia or myelodysplasia following rheumatoid arthritis?

Cytogenetic analyses by means of trypsin-Giemsa banding technique were performed on bone marrow cells from a total of 12 patients--nine with acute nonlymphocytic leukemia and three with myelodysplastic syndrome--and a history of rheumatoid arthritis. Clonal chromosomal abnormalities were identified in two patients with previous exposure to petroleum products, and radiation therapy for a malignant tumor, respectively; one additional patient had a loss of the Y chromosome as the sole aberration. All the remaining nine patients had completely normal karyotypes. Seven patients had received treatment for rheumatoid arthritis with mutagenic drugs. Acute nonlymphocytic leukemia or myelodysplastic syndrome secondary to cytotoxic treatment for a previous malignancy display multiple, usually complex, structural and numerical chromosomal abnormalities in the majority of cases. The contrasting findings in the present patient series suggest other pathogenetic mechanisms in acute nonlymphocytic leukemia and myelodysplastic syndrome following rheumatoid arthritis.

Acute Disease↗
PubMed1987

Characteristic patterns of chromosome abnormalities in acute myeloid leukemia with Auer rods.

Two hundred and four cytogenetically investigated patients with acute myeloid leukemia (AML) were evaluated for the presence (AR+) or absence (AR-) of Auer rods. Chromosome analysis was successful in 187 patients (92%). Seventy-eight patients (38%) were AR+. Cytogenetic abnormalities were detected in 35 (49%) AR+ patients and in 66 (57%) AR- patients. The proportion of patients with complex karyotypic changes (more than two aberrations) was significantly higher in the AR- group (p less than 0.01). Also, unidentifiable marker chromosomes were significantly more frequent in the AR- group (p less than 0.01). Twenty-one of 23 AR+, but none of 46 AR- patients with structural changes, had involvement of 21q22, 17q11-12, or 11p13-15. In contrast, structural changes of 1p, 5q, 7q, 9q, 11q, or 22q were present in 31 AR- but in only two AR+ patients. Four patients had translocations involving 21q22 without rearrangements of 8q22. All were AR+, but only one displayed M2 morphology. We draw the conclusion that chromosomal changes affecting 21q22 might be primarily related to AR formation, whereas, changes of 8q22 produce the characteristic differentiation pattern leading to M2 morphology, consistently found in AML with t(8;21)(q22;q22). With regard to numerical abnormalities, -7 and +8 occurred about equally often in the two groups, whereas, +11 and -Y, especially when present as the sole aberrations, were predominantly found in AR+ patients. In contrast, -5 and +21 were exclusively found in AR- patients. The results indicate that AR+ AML is characterized by a relatively limited number of chromosomal abnormalities that are different from the aberrations found in AR- patients. This feature has not been emphasized in previous studies correlating hematologic and cytogenetic findings in AML.

Bone Marrow↗
PubMed1987

A case of myelodysplastic syndrome with high platelet counts and a t(3;8)(q26;q24).

A 62-year-old male patient with refractory anemia with excess of blasts had a t(3;8)(q26;q24) as an acquired chromosomal abnormality in the bone marrow. This aberration has not been previously reported as a sole anomaly in any type of neoplasm, including myelodysplastic or myeloproliferative disorders. The findings of disturbed thrombocytopoiesis with high platelet counts and micromegakaryocytes in the bone marrow support the idea that alteration of the transferrin receptor gene, localized to 3q26, may be of pathogenetic significance.

Anemia, Refractory, with Excess of Blasts↗
PubMed1987

A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia.

The translocation t(8;16) (p11;p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia. The bone marrow morphology was strikingly similar in the two cases where smears were available for re-evaluation: the leukaemic cells showed signs of differentiation, and active erythrophagocytosis was a particularly conspicuous feature. We suggest that t(8;16) (p11;p13) represents a new consistent abnormality in acute monocytic leukaemia, specifically associated with the differentiated subtype (M5b) and with pronounced phagocytic activity by the leukaemic monocytes.

Adolescent↗
PubMed1986

High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2.

High resolution chromosome analysis was performed on bone marrow cells from four patients with acute promyelocytic leukemia and t(15;17), and in lymphocytes from two unrelated, phenotypically normal persons with an apparently identical constitutional translocation. Scrutiny of prophase-prometaphase chromosomes localized the breakpoints in all six cases to subbands 15q22.3 and 17q11.2. Molecular genetic studies have localized the oncogene c-erbA to chromosome #17 between the breakpoints of the constitutional and the acquired anomaly. The present results, therefore, map c-erbA to subband 17q11.2.

Chromosome Aberrations↗
PubMed1986

Cytogenetic analysis in 941 consecutive patients with haematologic disorders.

Clinical and cytogenetic findings were reevaluated in 941 consecutive patients with suspected neoplastic haematological conditions studied during 1973-1984. A total of 1652 attempts at cytogenetic analysis with banding technique were performed in 240 patients with acute nonlymphocytic leukaemia (ANLL), 177 with chronic myeloid leukaemia (CML), 157 with myelodysplasia (MDS), 82 with myeloproliferative disorders (MPD), 114 with acute lymphoblastic leukaemia (ALL), 42 with non-Hodgkin lymphoma or other lymphoproliferative disorders (NHL + LPD), and 120 patients with benign disorders. Only 1 patient with a benign disorder had an acquired clonal chromosomal abnormality (diagnostic specificity 0.99), whereas abnormalities were detected in 50.0% of patients with malignant haematologic disorders (diagnostic sensitivity 0.50). Success rate was 73-74.4% in ALL, MPD, and NHL + LPD, versus 87-94% in ANLL, MDS, CML, and benign disorders. The frequencies of detected abnormalities in diagnostic subgroups were within the limits of previous reports. Striking differences in cytogenetic pattern in relation to age were found in MDS and ANLL. Results from 1973-80 were compared to 1981-84. In spite of a marked reduction in failure rate of bone marrow (BM) analyses in the second time period, the fraction of patients with only inadequate cytogenetic analyses and the frequencies of detected chromosome abnormalities remained essentially unchanged. Peripheral blood samples had a high failure rate, and seldom provided additional information to BM analyses. Delay in transportation time of samples did not in general affect the outcome of cytogenetic analysis, with possible exceptions for a higher failure rate in ALL and lower frequency of detected abnormalities in ANLL.

Acute Disease↗
PubMed1985

Cytogenetic pattern in leukemic cells of patients with constitutional chromosome anomalies.

Acquired karyotypic changes analyzed by banding techniques in 21 patients with a malignant hematologic disorder and a major constitutional chromosome anomaly, including ten patients with trisomy 21, five patients with a balanced translocation, and six patients with a sex chromosome anomaly. Detailed karyotypic findings were ascertained in 28 additional patients reported in the literature. Some striking differences were observed in the combined material of the present series and cases previously published as regards (a) distribution of morphological leukemia types among patients with different types of constitutional anomalies, and (b) incidence and type of acquired chromosomal abnormality among patients with different types of constitutional anomalies.

Adolescent↗
PubMed1985

Variant Ph translocations in chronic myeloid leukemia.

Variant translocations were found in eight of 142 consecutive patients with Ph-positive, chronic myeloid leukemia encountered in our laboratory during the last decade. Two patients had simple, two-way variant translocations: t(17;22)(p13;q11) and t(16;22)(q24;q11). Both of these patients had an additional translocation involving chromosomes #9: t(7;9)(q22;q34) and t(9;17)(q34;q21), respectively. Complex variant translocations were found in four cases: t(2;9;22)(p23q12;q34;q11), t(3;9;22)(p21;q34;q11), t(9;12;22)(q34;q13;q11q13), and t(13;17;22)(p11;p11q21;q11). In two cases, the only discernable cytogenetic aberration was del(22)(q11). A review of the chromosomal breakpoints involved in this series and in 185 cases of variant Ph translocations previously reported in the literature reveals that a disproportionately large number of breakpoints are located in light-staining regions of G-banded chromosomes. Furthermore, the breakpoints in simple variant translocations are more often located in terminal chromosomal regions, whereas, the breakpoints in complex translocations typically affect nonterminal bands. No obvious correlation was detected between variant Ph translocation breakpoints and either fragile sites, oncogene locations, or consistent chromosome breakpoints in other malignancies.

Adult↗
PubMed1982

Creatine kinase and creatine kinase B-subunit activity in serum in cases of suspected myocardial infarction.

We evaluated a diagnostic strategy by studying 481 patients suspected of having had an acute myocardial infarction; the prevalence of infarction by independent criteria was 0.43. This strategy is based on the sequential application of: (a) clinical criteria; (b) total creatine kinase determinations in two serum samples drawn within 10 to 20 h of the onset of acute symptoms; and (c) creatine kinase B-subunit (S-CK B) determinations after immunoinhibition with antibodies to creatine kinase M-subunit in the reaction medium in all samples found to have increased total creatine kinase activity. Discrimination limits of 150 U/L total creatine kinase for women and 200 U/L for men gave a diagnostic sensitivity of 0.99. Activities less than these limits in samples identified 68% of the 274 non-infarct cases (posterior probability of a negative result of 0.99) within 20 h. Subsequent determination of S-CK B in 292 patients who were positive by the discrimination limits for total creatine kinase verified myocardial infarction in 99% of 207 cases for which S-CK B exceeded the discrimination limit of 12 U/L. The strategy excluded 98% of all non-infarct cases at a posterior probability of 0.99.

Alanine Transaminase↗
PubMedDate not supplied

NRAS mutations are rare in acute myeloid leukaemias with t(8;21) or inv(16).

Using PCR and direct sequence methodology, 19 haematologic malignancies with trisomy 8, 18 with t(8;21)(q22;q22) and 8 with inv(16)(p13q22) were screened for NRAS mutations. Of the 45 samples analyzed, 4 (9%) had a mutation; both wild-type and mutated alleles were observed in these 4 cases. Three of the mutations (involving codons 12 and 13) were found in the trisomy 8 group and 1 (codon 61) among the inv(16) samples. No specific clinical similarities were found in the 3 patients with +8 and NRAS mutation. By analyzing two sequential samples from the patient with inv(16) and NRAS mutation, it was shown that the mutation had occurred after the inversion. Since no NRAS mutations were detected among the t(8;21) samples and only 1 was found in the inv(16) group, we conclude that acute myeloid leukaemias with t(8;21) or inv(16) generally arise and progress without the involvement of NRAS mutations.

Acute Disease↗