1/48. 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.- - - - - - - - - - ranking = 1keywords = myelodysplastic (Clic here for more details about this article) |
2/48. 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.- - - - - - - - - - ranking = 17.347524722216keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/48. Unusual clinical presentation in a patient with myelodysplastic syndrome, with subsequent hematological remission and suppression of the malignant clone following treatment with cyclosporine A, erythropoietin and granulocyte colony-stimulating factor.A 35-year-old female presented with isolated thrombocytopenia of autoimmune origin. One and a half years later, hypoplastic myelodysplastic (MDS) was diagnosed. Following treatment with cyclosporin A, erythropoietin and granulocyte colony-stimulating factor, the patient has achieved a sustained hematological remission which is still ongoing after 3 years. Furthermore, to the best of our knowledge, this is the third case described in the literature where treatment with cytokines alone or in combination with immunosuppressive agents has resulted in a long standing cytogenetic response in MDS.- - - - - - - - - - ranking = 14.878019777773keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/48. Relapsing polychondritis, smouldering non-secretory myeloma and early myelodysplastic syndrome in the same patient: three difficult diagnoses produce a life threatening illness.multiple myeloma, relapsing polychondritis and myelodysplastic syndrome are all serious diseases in which making a clear diagnosis can be difficult. This case of a 72-year-old man found after extensive investigation to have all three of the above, demonstrates how difficult diagnosis and treatment can be, producing in this case a life threatening clinical syndrome. We also postulate that the association of these three diseases may be an immune-derived complication of myelodysplastic syndrome.- - - - - - - - - - ranking = 20.817029666659keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
5/48. Granulocytic sarcoma: report of three cases.Granulocytic sarcoma (GS) is a rare extramedullary solid tumour composed of malignant immature cells of the granulocytic series. It may herald, accompany or signal acute myeloid leukaemia (AML) or chronic granulocytic leukaemia (CGL). GS may also occur in patients with myelodysplastic syndromes (MDS) where it is a sign of imminent disease progression. Three cases of GS are presented; the first one involving the pancreas and preceding AML, the second case affecting uterine cervix in stable phase CGL and the third case is GS of the breast accompanying AML. Any site of the body may be involved by the GS, and morbidity depends on the local organ/tissue affected in addition to the attending primary leukaemia or MDS. Treatment of GS involves surgery, radiotherapy and chemotherapy. The objective of this communication is to enhance awareness in personnel providing health care. Further, early diagnosis and treatment affects overall outcome.- - - - - - - - - - ranking = 3.4695049444432keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/48. Refractory anemia with ringed sideroblasts with a low IPSS score progressed rapidly with de novo appearance of multiple karyotypic abnormalities and into acute erythroleukemia (AML-M6A).We report here a case of refractory anemia with ringed sideroblasts (RARS) with a low risk group by the International Prognostic Scoring System (IPSS) at the time of diagnosis but had a rapid disease progression. Although the patient showed a normal male karyotype at the time of RARS diagnosis, his marrow cells had del(5)(q14) and add(17)(p12) abnormalities 2 months after the diagnosis, and later the marrow cells had multiple abnormalities and the patient expired 6 months after the initial diagnosis of RARS. The patient was diagnosed as having RARS with a low risk group by the IPSS classification, however, one should keep in mind that some patients with myelodysplastic syndromes with low risks by either the French-American-British (FAB) classification or the IPSS classification may have progressive disease and subsequential cytogenetic analysis could predict the disease progression.- - - - - - - - - - ranking = 3.4695049444432keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/48. Interstitial deletion of the short arm of chromosome 12 during clonal evolution in myelodysplastic syndrome with t(5;12)(q13;p13) involving the ETV6 gene.We report here a 65-year-old man with a myelodysplastic syndrome (MDS), refractory anemia with excess of blasts. He had received chemotherapy with tegafur for renal carcinoma. Chromosome analysis of bone marrow cells revealed complex karyotypes; del(5)(q13) was observed in all 20 metaphase spreads, and two related aberrations, add(12)(p11) and add(12)(p13), were detected in 13 and 7 cells, respectively. fluorescence in situ hybridization (FISH) analysis with chromosome-specific DNAs revealed that these alterations originated from a reciprocal translocation (5;12)(q13;p13). Therefore, del(5)(q13), add(12)(p11), and add(12)(p13) were revised as der(5)t(5;12)(q13;p13), der(12)del(12)(p11p13)t(5;12)(q13;p13), and der(12)t(5;12)(q13;p13), respectively. fluorescence in situ hybridization with a series of cosmid probes spanning the ETV6 gene showed that the 12p13 breakpoint on the der(12)t(5;12)(q13;p13) was located in intron 1, but the exon 1 signal was deleted. Our results suggest that a fusion gene was generated between the 5'-end of an unidentified partner at 5q13 and the 3'-end of ETV6 by t(5;12)(q13;p13), and that the interstitial deletion (12)(p11p13) occurred following t(5;12) during clonal evolution. del(12)(p11p13), including the rearranged ETV6 gene, may be implicated in the progression of MDS.- - - - - - - - - - ranking = 17.347524722216keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
8/48. Two cases showing clonal progression with full evolution from aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome to myelodysplastic syndromes and leukemia.We report 2 paroxysmal nocturnal hemoglobinuria (PNH) patients who were initially diagnosed with aplastic anemia and sequentially developed PNH, myelodysplastic syndromes (MDS), and leukemia. flow cytometry and cytogenetic analysis showed the initial appearance and expansion of PNH clones, gradual replacement of PNH clones by MDS clones with monosomy 7, and then expansion of MDS clones or their subclones with additional chromosomal abnormalities. In relation to these developments, expression increased of the Wilms' tumor gene WT1, a marker for leukemic progression. These patients not only shared bone marrow failure but also might have harbored a hematopoietic environment favorable for the emergence of abnormal clones leading to leukemogenesis.- - - - - - - - - - ranking = 17.347524722216keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
9/48. 17q21-qter trisomy is an indicator of poor prognosis in acute myelogenous leukemia.A reciprocal translocation (9;11) is often found in acute myeloid leukemia (AML), mostly of the M5a type. We report a case of a child with AML, in whom t(9;11) was observed at diagnosis as the sole structural abnormality, together with trisomies 19 and 21. The diagnosis was AML evolving from a myelodysplastic syndrome (MDS), and the blast morphology was undifferentiated. Chemotherapy failed to induce morphological remission and the patient's condition soon worsened. A subclone appeared and expanded during the course of the disease, with an additional unbalanced translocation (1;17) leading to trisomy of the long arm of chromosome 17 (17q). The data available from the literature on acquired anomalies involving 17q and our observation led us to postulate a specific link between the gain of 17q and complete chemoresistance.- - - - - - - - - - ranking = 3.4695049444432keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
10/48. Myelodysplastic syndrome progresses rapidly into erythroleukemia associated with synchronous double cancers of the stomach and the papilla of Vater.patients with myelodysplastic syndrome (MDS) show a relatively high incidence of developing cancers. However, it is extremely rare that synchronous double cancers develop in an MDS patient. We report a case of MDS that progressed rapidly into erythroleukemia (M6 by French-American-British classification) complicated by gastric cancer and carcinoma of the papilla of Vater. A 66-year-old man was admitted because of pancytopenia with peripheral blasts. A diagnosis of MDS (with refractory anemia with excess of blasts in transformation [RAEB-T]) was made by bone marrow examination. Chromosome analysis revealed 46,XY. An early gastric cancer was also diagnosed by endoscopic examination. The peripheral blasts gradually proliferated and the disease progressed to M6. A chromosome abnormality 46,XY,del(1)(q42) was detected at the leukemic transformation. A CAG (low-dose cytarabine and aclarubicin in combination with granulocyte colony-stimulating factor) regimen was started as a remission-induction therapy. However, obstructive jaundice developed and a marked dilatation of bile ducts was observed by abdominal computed tomography (CT). A carcinoma of the papilla of Vater was detected by endoscopy. As remission was achieved and the pancytopenia improved, the patient subsequently underwent a surgical jejuno-choledochostomy to manage the jaundice. However, the leukemia relapsed thereafter and additional chromosome abnormalities including der(5)t(5;10)(p15:q11) were observed.- - - - - - - - - - ranking = 3.4695049444432keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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