11/20. Molecular implications of Ph ( ) myelodysplastic syndrome.We report a case of 62-year-old Japanese male with a myelodysplastic syndrome (MDS) with a Philadelphia (Ph) chromosome. cytogenetic analysis revealed the bone marrow cells to contain a Ph chromosome due to t(?;11;22) (?;q11;q11), as well as -5, -7, 8, -12 and an extra Ph, in addition to cells with a normal karyotype. Molecular analysis using breakpoint cluster region probes (5' bcr and 3' bcr) did not detect a rearrangement within the bcr dna sequences, indicating that the breakpoint at 22q11 occurred outside the bcr. Furthermore, the bone marrow cells from this patient did not express an 8.5 kb c-abl mRNA. Thus, the Ph translocation in this case differs from that of Ph-positive chronic myelogenous leukemia.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
12/20. Myelodysplastic syndrome with Philadelphia-like chromosome without bcr rearrangement.The case of a 62-year-old Japanese male with a myelodysplastic syndrome and a Philadelphia (Ph)-like chromosome, which probably involved bands 11q23 and 22q11, is presented. cytogenetic analysis of bone marrow cells revealed a Ph chromosome as well as -5, -7, 8, 11, -16, and an extra Ph. Some of the cells had a normal karyotype. Molecular analysis using breakpoint cluster region probes (5' bcr and 3' bcr) did not detect a rearrangement within the bcr dna sequences, indicating that the breakpoint at 22q11 occurred outside the bcr. Furthermore, the bone marrow cells from this patient did not express an 8.5-kb c-abl mRNA. Thus, the Ph chromosome in this case differs from that of Ph-positive chronic myelogenous leukemia, and the present case suggests that we should retain the term of "Ph-like chromosome" in such cases.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
13/20. association of large granular lymphocyte/natural killer cell proliferative disease and second hematologic malignancy.We describe the first three patients with a large granular lymphocytosis/lymphocytic leukemia and another blood malignancy. In two, a myeloproliferative disorder developed soon after the diagnosis of abnormal proliferation of large granular lymphocytes-natural killer (LGL-NK) cells, a myelodysplastic syndrome evolving to acute leukemia and a Philadelphia-positive chronic myelogenous leukemia. In these cases, LGLs expressed the phenotype of CD3 NK and CD3- NK cells, respectively, and were clonal in the first patient as demonstrated by T-cell receptor gene rearrangement study. In the third case, a similarly clonal excess of LGLs, phenotypically CD3 NK cells, was detected following a diagnosis of B-cell hairy-cell leukemia. Clinically, the concurrence of LGL proliferation and other leukemia did not seem to confer a worse prognosis on the patients. Although an association by chance remains a possible explanation, a common origin from an altered precursor cell for both myeloid and LGL proliferations in the first two cases is discussed, whereas in the third it might be related to the severe immune derangement frequently observed in hairy-cell leukemia.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
14/20. association of the philadelphia chromosome and 5q- in secondary blood disorder.A patient developed a secondary blood disorder 7 years after radiotherapy for a gastric lymphoma. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with transient polycythemia, progressive thrombocythemia, and hyperleukocytosis. Chromosome analysis performed in the terminal phase showed del(5)(q13q31),t(9;22)(q34;q11), and a complex rearrangement involving chromosomes #2 and #3. A correlation between chromosomal abnormalities and hematologic findings could be established. In this case, we have assumed that the Philadelphia translocation is a late event, due to prior mutagen exposure, and its association with a common secondary abnormality (5q-), followed by a progressively developing myeloproliferative phase. Furthermore, the association of Ph and 5q- in a single clone seems to indicate that the same stem cell is affected by these two abnormalities.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
15/20. Secondary acute myeloblastic leukemia with a Ph translocation in a treated Wegener's granulomatosis.Ph-positive acute myeloblastic leukemia (AML) developing in a treated case of Wegener's granulomatosis is reported. The patient was a 70-year-old white male who received cyclophosphamide (150 mg/day) starting in July 1978; in May 1984 the patient was diagnosed as having AML, following a diagnosis of myelodysplastic syndrome lasting 3 months. Cytogenetic study of bone marrow cells at the diagnosis of the myelodysplastic syndrome revealed a standard Ph translocation in addition to numerical chromosome changes [i.e., 45,XY, -5, -7, -8, 19, mar/45,XY, -5, -7, -8, 19, mar,t(9;22)(q34;q11]). The events in this case suggest a strong possibility of the Ph-positive AML being a secondary disease related to prior cyclophosphamide therapy.- - - - - - - - - - ranking = 0.4keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
16/20. phenylbutazone-induced myelodysplastic syndrome with Philadelphia translocation.We present a case of a 69-year-old white male with a 3-year history of a myelodysplastic syndrome probably induced by phenylbutazone, and which developed into an overt leukemic phase. Chromosome analysis in the leukemic phase revealed the bone marrow cells to contain a Philadelphia translocation [46,XY,t(9;22)(q34;q11)]. We discuss the possible association between a prior history of exposure to hemotoxins and myelodysplastic syndromes, and the rarity of a Ph translocation in drug-induced hematologic malignancy.- - - - - - - - - - ranking = 1.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
17/20. Late-appearing philadelphia chromosome in a patient with acute nonlymphocytic leukaemia derived from myelodysplastic syndrome: detection of P210- and P190-type bcr/abl fusion gene transcripts at the leukaemic stage.We describe a patient with acute nonlymphocytic leukaemia (ANLL) derived from myelodysplastic syndrome in whom the philadelphia chromosome (Ph1) first emerged at the late stage of ANLL transformation. Cytogenetically, the Ph1 chromosome was not detected until the late stage of ANLL transformation, 14 months after the transformation following a 3-month history of refractory anaemia with excess of blasts. The cells with and without the Ph1 chromosome had a common abnormal chromosome, t(3;3) (q21;q26). The reverse transcription-polymerase chain reaction analysis showed no bcr/abl message at diagnosis. However, the mRNA encoding P210bcr/abl was detected in the early stage of ANLL transformation. Furthermore, the mRNAs encoding both P210bcr/abl and P190bcr/abl were detected in the late stage of ANLL transformation when the Ph1 chromosome was detected by cytogenetic analysis. These evidences support a multistep pathogenesis of leukaemias, and the products of bcr/abl fusion gene may influence the course of disease.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
18/20. Chronic neutrophilic leukemia. A study of four cases.Chronic neutrophilic leukemia (CNL) is a very rare entity, which has to be included among the chronic myeloid leukemias. Once an underlying cause of neutrophilia is excluded, the diagnosis of CNL is based on exclusion of chronic granulocytic and other types of chronic myeloid leukemias. The classification proposed by Sheperd et al. has proven to be helpful, but it must be completed by cytogenetic analysis and the search for bcr rearrangement by molecular biology methods, in order to confirm the absence of philadelphia chromosome and of bcr-abl hybrid gene. We report here four cases of CNL, with confirmed absence of bcr rearrangement in two cases. Two patients died, 12 and 8 years after diagnosis, the second one following transformation into myelofibrosis with myeloid metaplasia. The other two died of acute myelogenous leukemia, the first one, 25 years after diagnosis of CNL, following a 3-year phase of acceleration. The last patient presented combined features of CNL and refractory anemia with excess of blasts, and was characterized by both progressive leukocytosis and severe thrombocytopenia; acute transformation into acute myelogenous leukemia occurred 6 months after diagnosis and death 1 month later. Among the 30 cases reported so far, plus the four presented here, combined myelodysplastic features were observed in five cases and transformation into acute myelogenous leukemia in six. Chronic neutrophilic leukemias should be reported regularity, in view of the uncertain and low frequency of this hematological disease.- - - - - - - - - - ranking = 0.059359537711521keywords = myelodysplastic (Clic here for more details about this article) |
19/20. Acquired amegakaryocytic thrombocytopenic purpura with a philadelphia chromosome.A 30-year-old Chinese man with acquired amegakaryocytic thrombocytopenic purpura (AATP) and a Ph chromosome is reported. At presentation, he had severe thrombocytopenia resulting in epistaxis, gingival bleeding, and ecchymoses, while other hematologic values were within the normal range. Bone marrow aspiration showed no megakaryocytes, with a normal appearance of erythroblastic and granulopoietic series. He failed to respond to prednisone treatment, and underwent a progress from isolated thrombocytopenia to full pancytopenia. At last he died of spontaneous intracranial hemorrhage. An in vitro culture for granulocyte-macrophage precursors showed very few colonies. Karyotypic analysis revealed a standard Ph chromosome translocation, t(9;22)(q34;q11), in the majority of bone marrow cells. Southern blot analysis using a 3' bcr-HE probe didn't detect a rearrangement within the bcr dna sequence. This patient, in fact, was a myelodysplastic disorder, initially presenting as AATP. The diagnosis of chronic myelogenous leukemia was excluded on the basis of clinical and hematologic findings. The heterogeneity of Ph chromosome in myelodysplastic syndrome is discussed.- - - - - - - - - - ranking = 0.25935953771152keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
20/20. Acute leukemias expressing p210-and p 190-type bcr/abl mRNAs: report of two cases and review of the literature.We report two patients with acute leukemias who expressed two types of bcr/abl mRNA. The first case was an 8-year-old boy with acute mixed leukemia in whom the Ph1 chromosome and p210/p190 types of bcr/abl mRNAs were detected at diagnosis. The second case was a 39-year-old male with acute nonlymphocytic leukemia transformed from myelodysplastic syndrome (refractory anemia with excess of blasts). In the latter case, the p210-type mRNA appeared after leukemic transformation, and the p190-type transcript was detected only during the late stage when the Ph1 chromosome was first observed. The leukemias in these two patients were aggressive in their clinical courses. We conclude that the dual expression of p210 and p190 types of bcr/abl is a factor indicating a poor prognosis, and that, in some patients, p190-type bcr/abl may contribute to disease progression.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
| <- Previous || Next -> |