1/18. Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism.We present a 3-year-old boy with constitutional partial trisomy 8 mosaicism (karyotype 47,XY, del(8)(p12)/46,XY) who developed chronic myelomonocytic leukaemia and we review the few reported cases of constitutional trisomy 8 mosaicism (CT8M) associated with malignancy. This case highlights the association between CT8M and the development of malignancies, haematological malignancies in particular.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/18. trisomy 14 in myeloid malignancies: report of two cases and review of the literature.To our knowledge, 58 cases of trisomy 14 in association with hematological malignancies have been reported, predominantly in myeloid malignancies. We report two patients with trisomy 14 associated with myelodysplasia. The bone marrow showed trilineage dysplasia, monocytosis and only mild thrombocytopenia. A nonmosaic karyotype was seen in both patients and survival from diagnosis was short (<1 year). The features are consistent with data from other published cases and support the hypothesis that trisomy 14 is a non-random karyotypic abnormality, with defined clinical associations and a poor prognosis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/18. Concurrent pernicious anemia and myelodysplastic syndrome.Megaloblastic anemia (MA) due to vitamin B12 deficiency is a reversible form of ineffective hematopoiesis. Myelodysplastic syndrome (MDS) is an acquired, irreversible disorder of ineffective hematopoiesis, characterized by stem cell dysfunction as a consequence of dna damage manifested in part by karyotype anomalies. Importantly, MA and MDS are generally considered mutually exclusive diagnoses. We report the case of a 73-year-old woman with a profound macrocytic anemia, monocytosis and neurologic symptoms. Low cobalamin levels and the presence of anti-intrinsic-factor antibodies definitively established a diagnosis of pernicious anemia. Replacement therapy resulted in resolution of neurologic findings and macrocytosis; however, the anemia and monocytosis persisted. Bone marrow biopsy revealed trilineage myelodysplasia, which together with the peripheral monocytosis suggested a diagnosis of chronic myelomonocytic leukemia. karyotype analysis revealed a clone with 45, XX, der(1;7)(q10;p10)-7 [20]. Eighteen months after documented vitamin B12 replenishment her MDS transformed to terminal acute myeloid leukemia with the same clonal abnormality. Reversible cytogenetic abnormalities have been observed with MA, occasionally including karyotypes typically associated with MDS or myeloid leukemias. These abnormalities, like the anemia, resolve with vitamin replacement. This case suggests that MA and MDS can occur simultaneously; clinicians should be aware that this phenomenon occurs. Whether acquired karyotype abnormalities from the MA were related to the MDS and subsequent myeloid leukemia in this woman is a speculative but intriguing consideration that is discussed.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |
4/18. Pentasomy 8q resulting from duplication of isochromosome 8q in chronic myelomonocytic leukemia.We report an interesting case of chronic myelomonocytic leukemia (CMML) with pentasomy 8q resulting from the duplication of isochromosome 8q in a 47-year-old male. His blood picture and myelogram showed CMML and the chromosome study, using R-banding and G-banding techniques, revealed a karyotype of 47,XY,-8, i(8)(q10)x2. Dual-color fluorescence in situ hybridization (FISH) studies with a #8 centromeric probe and a locus-specific probe for C-myc gene completely confirmed the result of the conventional cytogenetic method. reverse transcription polymerase reaction (RT-PCR) revealed no BCR/ABL fusion transcript. hydroxyurea and 6-mercaptopurine therapy did not induce a complete remission and five months later he died of exacerbation of his disease. On reviewing another two cases with pentasomy 8q in the literature, we feel that pentasomy 8q, when present as a sole anomaly, may play a specific role in leukemogenesis and in determining the clinical characteristics such as monocytic involvement and poor prognosis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/18. monosomy 15 in chronic myelomonocytic leukemia. description of a case and review of the literature.We report a 89-year-old female diagnosed with chronic myelomonocytic leukemia (CMMoL) presenting with a monosomy 15. To our knowledge, this is the second reported case of CMMoL with monosomy 15. On the other hand, monosomy 15 in complex karyotypes is a frequent chromosome aberration in myelodysplastic syndromes, particularly in refractory anemia with excess of blasts.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/18. Mediastinal immature teratoma with yolk sac tumor and myelomonocytic leukemia associated with Klinefelter's syndrome.A 14-year-old male presenting with a short history of right subclavicular chest pain was found to have a mediastinal tumor. Hematologic investigations and bone marrow examination showed features of myelomonocytic leukemia. The mediastinal tumor was excised, but the surgery was complicated by massive hemorrhage. The patient's condition deteriorated postoperatively and he died a week later. The histology of the mediastinal tumor showed the typical features of an immature teratoma with a yolk sac tumor. A prominent infiltrate of leukemic blast cells was present within blood vessels and in close proximity to the yolk sac component. The karyotypic analysis of leukemic cells isolated and cultured from the bone marrow showed 50XXY, 8, 21, iso G-group marker chromosome karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/18. Acute myelocytic leukemia and chronic myelomonocytic leukemia simultaneously with resectable breast cancer: a report of two cases.This report describes 2 patients who developed acute myelocytic leukemia (AML) type M2 and chronic myelomonocytic leukemia (CMML) of the FAB classification, respectively 2 months and 2 weeks after diagnosis of operable breast cancer. The patient with AML showed pancytopenia 2 months before the diagnosis of AML, had a normal karyotype, and showed a good response to chemotherapy. The patient with CMML had a normal karyotype, and she was treated with hydroxyurea and supportive therapy. The 2 patients had no previous exposure to irradiation or cytotoxic therapy. These cases show that breast cancer and either leukemia or myelodysplastic syndrome may be associated even without previous irradiation or combination chemotherapy.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
8/18. Cytogenetic and molecular studies of the philadelphia translocation in myelodysplastic syndromes. Report of two cases and review of the literature.We report two patients with a myelodysplastic syndrome and the philadelphia (Ph) chromosome. The first patient was a 73-year-old man who was diagnosed as having a chronic myelomonocytic leukemia in combination with features suggestive of a myeloproliferative syndrome. Chromosomal analysis showed a normal karyotype in the majority of cells, mixed with metaphases containing a standard Ph translocation, t(9;22)(q34;q11), as well as a translocation between chromosome 4 and 6: t(4;6)(p15;p12). Southern blot analysis showed breakpoint cluster region rearrangement as observed in classic chronic myeloid leukemia. The second patient was a 63-year-old man with a myelodysplastic syndrome, type refractory anemia. Cytogenetic study of bone marrow cells at the time of diagnosis revealed a normal karyotype: 46,XY. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with progressive leukocytosis and thrombocytosis. During the terminal phase the Ph chromosome was discovered in 100% of the examined cells. We discuss the correlation between MDS and myeloproliferative diseases, the de novo acquisition of the Ph chromosome during the course of a myelodysplastic syndrome, and review the literature.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
9/18. Donor cell-derived acute myeloblastic leukemia after allogeneic peripheral blood hematopoietic stem cell transplantation for juvenile myelomonocytic leukemia.Despite its rarity, donor cell leukemia (DCL) is a most intriguing entity. We report here the case of a 5 year-old girl with juvenile myelomonocytic leukemia and normal female karyotype who developed acute myeloblastic leukemia with a karyotype of 46, X, t(X; 7) (p21; p11.2), der(7) t(3; 7) (q13.3; q22) 5 months after peripheral blood hematopoietic stem cell transplantation from her HLA-matched sister. We performed the analysis of short tandem repeat sequence markers to DNA obtained from donor peripheral blood, patient's peripheral blood including leukemic blasts and patient's hair root. This analysis showed that the leukemic blood DNA matched the donor blood DNA and not the patient's DNA, thus confirming DCL. To our knowledge, this is the first case of DCL after peripheral blood SCT for juvenile myelomonocytic leukemia.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
10/18. del(15)(q11q15) associated with transformation of chronic myelomonocytic leukemia.Nonrandom cytogenetic abnormalities have been described in a variety of human malignancies including myelodysplastic syndromes (MDS). Acquisition of new chromosomal abnormalities may herald onset of a more aggressive disease. We report a patient with chronic myelomonocytic leukemia (CMMoL) who initially had a normal karyotype, but in whom the clonal interstitial deletion of chromosome 15 (q11-q15) was coincident with development of acute myeloid leukemia (AML) one year later. To date, this chromosomal change has not been reported in CMMoL, AML, or any other human malignancy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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