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Annals of Hematology 06/2013; · 2.62 Impact Factor
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International journal of hematology 05/2013; · 1.17 Impact Factor
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Annals of Hematology 04/2013; · 2.62 Impact Factor
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American Journal of Hematology 03/2013; · 4.67 Impact Factor
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Kimikazu Yakushijin, Katsuya Yamamoto,
Keiji Kurata,
Yoshiharu Miyata,
Seiji Kakiuchi,
Hideo Tomioka,
Yuriko Kawamori-Iwamoto,
Yumiko Inui,
Yukinari Sanada,
Atsuo Okamura,
Tohru Murayama,
Hiroshi Matsuoka,
Hironobu Minami
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ABSTRACT: Tolvaptan is an oral vasopressin V2-receptor antagonist recognized as effective for fluid retention associated with congestive heart failure and liver cirrhosis. However, there have been no reports concerning clinical experience with tolvaptan for sinusoidal obstruction syndrome (SOS). A 42-year-old male with primarily refractory T-lymphoblastic lymphoma underwent allogeneic peripheral blood stem cell transplantation from an HLA-matched sibling donor. The myeloablative conditioning regimen consisted of busulfan and cyclophosphamide. On day 20, the total bilirubin level was elevated to 2.0 mg/dL, and body weight increased from 76 to 85 kg, allowing a diagnosis of SOS to be made. Treatments with thrombomodulin, furosemide, carperitide, and low-dose dopamine were ineffective. By day 27, the patient's body weight had increased to 90 kg, and he subsequently developed cardiopulmonary failure. Therefore, we administered low-dose tolvaptan for 2 days (3.75 mg on day 27 and 7.5 mg on day 28). Consequently, his ascites and edema were significantly reduced, and body weight returned to 77 kg by day 34. However, he died of lymphoma progression on day 55. Tolvaptan may be an alternative and promising treatment for refractory fluid retention associated with SOS, although it is unclear whether tolvaptan administration leads to improvement in clinical outcome.
International journal of hematology 01/2013; · 1.17 Impact Factor
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Leukemia & lymphoma 01/2013; · 2.40 Impact Factor
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ABSTRACT: BACKGROUND: In T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL), activating mutations of NOTCH1 are observed in more than 50% of cases, whereas the t(7;9)(q34;q34) involving NOTCH1 at 9q34 and TRB@ at 7q34 is an extremely rare but recurrent translocation. PATIENT: A 41-year-old male with a large mediastinal mass, pleural effusion, and lymphadenopathy was diagnosed as having T-LBL. Lymphoma cells were positive for CD4, CD8, CD2, CD3, CD5, CD7, CD10, and TdT. RESULTS: G-banding and spectral karyotyping of pleural effusion cells showed 47,XY,dup(1)(q21q32),t(7;9)(q34;q34),+20. Genomic polymerase chain reaction (PCR) revealed that the 5' end of TRB@ J1-5 was connected with the middle of NOTCH1 exon 25 (434 bp downstream from its 5' end) in a "head-to-head" configuration on the der(9)t(7;9), although nine extra bases were inserted between the two genes. Reverse transcription-PCR confirmed expression of the TRB@/NOTCH1 fusion transcripts. Similarly, the 5' end of J1-5 was fused to the shortened exon 25 with nine extra bases. The NOTCH1 breakpoint in exon 25 was very close to transcription start sites of deleted Notch1 in murine T-ALL. CONCLUSIONS: The TRB@/NOTCH1 fusion gene with a NOTCH1 breakpoint in exon 25, which has not previously been detected in four other reported cases with t(7;9), could lead to aberrant expression of the truncated NOTCH1 by TRB@ enhancer elements. The resultant NOTCH1 receptor deleting most of the extracellular domain may be implicated in the pathogenesis of T-LBL by ligand-independent, constitutive activation of the NOTCH1 pathway, suggesting avenues for future therapy with γ-secretase inhibitors. © 2012 John Wiley & Sons A/S.
European Journal Of Haematology 10/2012; · 2.61 Impact Factor
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Annals of Hematology 08/2012; · 2.62 Impact Factor
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Leukemia research 08/2012; · 2.36 Impact Factor
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Leukemia research 05/2012; 36(9):e202-5. · 2.36 Impact Factor
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ABSTRACT: Near-tetraploidy is a rare cytogenetic abnormality observed in acute myeloblastic leukemia (AML). It was recently suggested
that near-tetraploid AML may be associated specifically with t(8;21)(q22;q22). We report here a new case of near-tetraploid
AML with double t(8;21)(q22;q22) translocations. A 61-year-old woman was admitted to our hospital because of high fever and
pancytopenia. Her bone marrow was markedly hypercellular, with 72% giant and bizarre myeloblasts. These myeloblasts were positive
for CD7, CD13, CD19, CD33, CD34, and HLA-DR but negative for CD2 and CD56. The patient’s disease was diagnosed as the M2 subtype
of AML (by French-American-British classification). Chromosome analysis revealed a karyotype of 45,X,-X, t(8;21) (q22;q22)[1]/90,XXX,-X,t(8;21)(q22;q22)x2,-9[7]/46,XX[12].
Fluorescence in situ hybridization (FISH) analysis with anAML1/ ETO probe detected 4 fusion signals on 2 der(8)t(8;21) and 2 der(21)t(8;21) in near-tetraploid cells. Reverse transcription-polymerase
chain reaction analysis revealed the presence of theAML1/ETO fusion transcript. These findings suggested that near-tetraploidy may be a secondary genetic change originating from a diploid
clone with t(8;21) and that 2AML1/ETO fusion genes are generated on the der(8)t(8;21) in near-tetraploid clones. Consideration of the other reported cases suggests
that the immunophenotypes of near-tetraploid AML with double t(8;21) are heterogenous, but it is possible that t(8;21)-AML
with expression of CD2 or CD7 may be associated with a secondary clonal evolution to near-tetraploidy.
International Journal of Hematology 04/2012; 74(3):316-321. · 1.27 Impact Factor
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Leukemia research 04/2012; 36(4):e84-6. · 2.36 Impact Factor
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European Journal Of Haematology 01/2012; 88(6):553-4. · 2.61 Impact Factor
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ABSTRACT: Myelodysplastic syndromes (MDS) with pure red cell aplasia (PRCA) have been shown to be a rare form of MDS. A 35-year-old man presented with pancytopenia: hemoglobin 59 g/L, reticulocytes 2 × 10(9)/L, platelets 33 × 10(9)/L, and leukocytes 1.8 × 10(9)/L with 1% blasts. Bone marrow was hypercellular with 50.4% myeloid cells, 0.0% erythroblasts, 25.4% basophils, and 5.6% myeloblasts. Dysplastic changes including pseudo-Pelger-Huët anomaly of neutrophils and mononuclear micromegakaryocytes were found. Immunohistochemistry with glycophorin C confirmed erythroid aplasia. Cytogenetic analysis showed 46,XY,i(17)(q10)[18]/47,XY,+8[2]. Considering two reported cases, these findings indicate that isolated i(17q) may be implicated in the pathogenesis of MDS with PRCA as a recurrent cytogenetic aberration.
Internal Medicine 01/2012; 51(12):1579-84. · 0.94 Impact Factor
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ABSTRACT: The t(9;11)(p22;p15) is a very rare but recurrent translocation in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) blast crisis. The translocation results in a fusion gene between NUP98 at 11p15 and PSIP1 encoding two transcriptional coactivators, p52 and p75, at 9p22. Here, we describe the first case of myelodysplastic syndrome (MDS) with t(9;11)(p22;p15).
A 64-yr-old woman presented pancytopenia, trilineage dysplasia, and 9.2% blasts in the bone marrow, indicating the diagnosis of MDS.
G-banding and spectral karyotyping showed 46,XX,t(9;11)(p22;p15)[20]. Reverse transcription-polymerase chain reaction (RT-PCR) and nucleotide sequencing detected four types of NUP98/PSIP1-p52 and two types of NUP98/PSIP1-p75 fusion transcripts. Essentially, the NUP98 exon 12 or exon 11 by alternative splicing was fused in-frame with the PSIP1 exon 8. Real-time quantitative (RQ) PCR for NUP98/PSIP1/GAPDH demonstrated a 4-log decrease after cord blood transplantation and a 2-log increase at relapse.
The fusion genes combining NUP98 exon 11/12 with PSIP1 exon 8, which have never been detected in other AML/CML cases, may be implicated in the pathogenesis of MDS. Furthermore, RQ-PCR for NUP98/PSIP1 could be useful to monitor minimal residual disease.
European Journal Of Haematology 11/2011; 88(3):244-8. · 2.61 Impact Factor
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ABSTRACT: Chromosomal translocations involving MYC at 8q24 are found in Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL (BCLU). Here, we describe a novel five-way translocation, t(3;9;13;8;14)(q27;p13;q32;q24;q32), involving MYC, BCL6, and the immunoglobulin heavy locus (IGH@) in a 73-year-old man with BCLU. The bone marrow was massively infiltrated with 95.6% abnormal medium- to large-sized lymphoid cells without vacuoles. Flow cytometric analyses indicated that the infiltrating cells were positive for CD10, CD19, CD20, CD25, HLA-DR, and κ chain. Immunohistochemistry revealed that they were also positive for BCL2 and CD10, and weakly positive for BCL6. The MIB1 index was approximately 99%. G-banding and spectral karyotyping demonstrated the presence of a t(3;9;13;8;14)(q27;p13;q32;q24;q32). Fluorescence in situ hybridization detected an IGH/MYC fusion signal on the der(14)t(8;14)(q24;q32). In addition, 5' and 3'BCL6 signals were separated onto the der(9)t(3;9)(q27;p13) and the der(3)t(3;14)(q27;q32), respectively. Unexpectedly, no BCL6 signal was found on the non-translocated chromosome 3. Finally, the revised karyotype was as follows: 49,XY,del(3)(q27q27),t(3;9;13;8;14)(q27;p13;q32;q24;q32), +der(6)t(6;13)(q13;q32)t(9;13)(p13;q32),+7,+12,i(18)(q10)[2]/50,sl,+7[2]/50,sl,+2[1]. These results suggest that this five-way translocation could bring about the deregulated expression of MYC on the der(14)t(8;14) and BCL6 on the der(3)t(3;14) by the IGH@ enhancer/promoter in a single event and may have contributed to the development of this BCLU.
Cancer Genetics 09/2011; 204(9):501-6.
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Leukemia research 07/2011; 35(11):e212-4. · 2.36 Impact Factor
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Atsuo Okamura,
Kimikazu Yakushijin,
Yumiko Inui,
Yohei Funakoshi,
Yuriko Kawamori,
Takanobu Shimada,
Masanori Toyoda,
Naoko Chayahara,
Naomi Kiyota,
Yutaka Fujiwara,
Toru Mukohara,
Hiroshi Matsuoka, Katsuya Yamamoto,
Hironobu Minami
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ABSTRACT: In allogeneic hematopoietic stem cell transplantation (allo-SCT), most physicians in Japan utilize granulocyte colony-stimulating factor (G-CSF) at a high dose (HD) of 300 μg/m(2) per day for filgrastim to promote faster neutrophil engraftment. However, the necessity of the HD has not been validated under graft-versus-host disease (GVHD) prophylaxis by mycophenolate mofetil (MMF), which can also be expected to facilitate engraftment. In a total of 51 patients, we compared the clinical outcomes between a standard dose (SD) fixed at 300 μg per day and a HD of G-CSF. While time to neutrophil engraftment was not different in the HD and SD groups in patients receiving cord blood transplantation (CBT, 20 vs. 17.5 days, P = 0.243) or bone marrow transplantation (BMT, 11 vs. 10 days, P = 0.227), there seemed to be an increased risk of developing acute GVHD in the HD group with CBT (20 vs. 0%, P = 0.073) and BMT (57 vs. 24%, P = 0.165). Progression-free survival of patients in the HD group was likely to be worse compared with that of the SD group with CBT (P = 0.099). In this study, the clinical benefits of a HD of G-CSF could not be documented, and we find that the use of G-CSF at a SD after allo-SCT with MMF should be prospectively evaluated.
International journal of hematology 06/2011; 93(6):765-70. · 1.17 Impact Factor
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Leukemia research 03/2011; 35(7):e100-3. · 2.36 Impact Factor
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ABSTRACT: Pure erythroid leukemia (PEL) is an extremely rare disorder characterized by neoplastic proliferation of immature erythroblasts. A 66-year-old man, who had received chemoradiotherapy for hypopharyngeal cancer, was admitted because of pancytopenia. Bone marrow was infiltrated with 81% proerythroblasts positive for CD71 and CD235a. An increased number of macrophages with active hemophagocytosis was also present. Chromosome analysis showed hypodiploid complex abnormalities. The patient died of progressive disease despite induction chemotherapy. Erythroblastic infiltration into the liver and hemophagocytosis in the spleen were found at autopsy. Therapy-related PEL with hemophagocytic syndrome and hepatic infiltration of PEL has never been reported.
Internal Medicine 01/2011; 50(24):3031-5. · 0.94 Impact Factor
