scholarly journals Transformation of Acute Myeloid Leukemia with Deletion of Chromosome 7q and Additional Abnormalities in Chromosome 8 in a Patient with Essential Thrombocythemia

2021 ◽  
pp. 217-223
Author(s):  
Ayaka Shimizu ◽  
Kei Takenaka ◽  
Shinya Ohata ◽  
Kazuhide Morimoto ◽  
Hiromi Hashimoto ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Essential Thrombocythemia ◽  
Cerebral Hemorrhage ◽  
Myeloid Leukemia ◽  
Bone Marrow Examination ◽  
Salvage Chemotherapy ◽  
Chromosome 8 ◽  
Histopathological Analysis ◽  
Chromosome 7Q ◽  
Acute Myeloid

This is a case report of a 60-year-old male patient with essential thrombocythemia (ET) that progressed to acute myeloid leukemia (AML) in approximately 9 years. His platelet count decreased approximately 8 years after ET treatment with hydroxyurea (HU) and aspirin. The dose of HU was reduced because of suspected myelosuppression due to HU; however, myelosuppression did not improve. Bone marrow examination revealed myelofibrosis; therefore, ruxolitinib was administered. Approximately 1 year later, his leukocyte and blast counts in the peripheral blood increased; thus, ET was judged to have progressed to AML-myelodysplasia-related change. Induction chemotherapy and consolidation therapy were initiated; however, the patient unfortunately failed to achieve complete remission. We then continued to administer salvage chemotherapy; however, his general condition worsened, and he died from cerebral hemorrhage. The karyotype at the onset of ET was 46,XY, which changed to 47,XY,del(7q),+8 at the time of AML diagnosis. In addition, genetic testing revealed FLT-3 ITD mutation. His histopathological analysis showed subarachnoid and intraparenchymal hemorrhages and tumor cell infiltration into the cerebrum, brainstem, and cerebellum. In this case, deletion of the long arm of chromosome 7, additional abnormalities in chromosome 8, and FLT3-ITD mutation were confirmed as risk factors for having developed secondary AML for approximately 9 years and death from cerebral hemorrhage 1 year later.

scholarly journals Tritsomy 8 Acute Myeloid Leukemia Analysis Reveals New Insights of DNA Methylome with Identification of HHEX as Potential Diagnostic Marker

2015 ◽  
Vol 7 ◽  
pp. BIC.S19614 ◽  
Author(s):  
Marwa H. Saied ◽  
Jacek Marzec ◽  
Sabah Khalid ◽  
Paul Smith ◽  
Gael Molloy ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Diagnostic Marker ◽  
Cpg Island ◽  
Global Analysis ◽  
Extra Chromosome ◽  
Chromosome 8 ◽  
Trisomy 8 ◽  
Acute Myeloid

Trisomy 8 acute myeloid leukemia (AML) is the commonest numerical aberration in AML. Here we present a global analysis of trisomy 8 AML using methylated DNA immunoprecipitation-sequencing (MeDIP-seq). The study is based on three diagnostic trisomy 8 AML and their parallel relapse status in addition to nine non-trisomic AML and four normal bone marrows (NBMs). In contrast to non-trisomic DNA samples, trisomy 8 AML showed a characteristic DNA methylation distribution pattern because an increase in the frequency of the hypermethylation signals in chromosome 8 was associated with an increase in the hypomethylation signals in the rest of the chromosomes. Chromosome 8 hypermethylation signals were found mainly in the CpG island (CGI) shores and interspersed repeats. Validating the most significant differentially methylated CGI ( P = 7.88 · 10–11identified in trisomy 8 AML demonstrated a specific core region within the gene body of HHEX, which was significantly correlated with HHEX expression in both diagnostic and relapse trisomy 8 AMLs. Overall, the existence of extra chromosome 8 was associated with a global impact on the DNA methylation distribution with identification of HHEX gene methylation as a potential diagnostic marker for trisomy 8 AML.

scholarly journals Translocation breakpoints are clustered on both chromosome 8 and chromosome 21 in the t(8;21) of acute myeloid leukemia

Blood ◽  
1993 ◽  
Vol 81 (3) ◽  
pp. 592-596 ◽  
Author(s):  
JE Tighe ◽  
A Daga ◽  
F Calabi
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chromosome 8 ◽  
Chromosome 21 ◽  
Novel Gene ◽  
Translocation Breakpoints ◽  
Acute Myeloid

Abstract The t(8;21)(q22;q22) is consistently associated with acute myeloid leukemia (AML) M2. Recent data have suggested that breakpoints on chromosome 21 are clustered within a single intron of a novel gene, AML1, just downstream of a region of homology to the runt gene of D melanogaster. In this report, we confirm rearrangement at the same location in at least 12 of 18 patients with t(8;21). Furthermore, we have isolated recombinant clones spanning the breakpoint regions on both the der(8) and the der(21) from one patient. By using a chromosome 8 probe derived from these clones, we show that t(8;21) breakpoints are also clustered on chromosome 8.

scholarly journals A Rare Case of Coexisting Breast Cancer and Refractory Acute Myeloid Leukemia

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
L. Ballotta ◽  
S. M. Trisolini ◽  
A. P. Iori ◽  
U. La Rocca ◽  
A. Micozzi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Salvage Chemotherapy ◽  
Infectious Complications ◽  
Term Survival ◽  
First Line Therapy ◽  
Refractory Acute Myeloid Leukemia ◽  
Acute Myeloid

The occurrence of acute myeloid leukemia (AML) within six months from a diagnosis of breast cancer (BC) is rarely reported in the literature, and it is associated with a poor prognosis. We report herein the case of a 40-year-old woman referred to our centre affected by BC and simultaneous AML. The patient proved refractory to first line therapy and achieved complete remission (CR) with a clofarabine-based regimen followed by allogeneic stem cell transplantation (ASCT). Both during salvage chemotherapy and after ASCT, the patient presented severe infectious complications ( acute cholecistytis and Nocardia pneumonia, respectively) treated with surgery, and currently she is alive in CR for both diseases after 29 months of follow-up. The case highlights the importance of a diagnostic assessment of any unexplained cytopenia in association with solid neoplasia under treatment, underlining the feasibility and priority of a timely treatment of the haematological neoplasm in order to achieve long-term survival.

scholarly journals Immunotherapy- (Blinatumomab-) Related Lineage Switch of KMT2A/AFF1 Rearranged B-Lymphoblastic Leukemia into Acute Myeloid Leukemia/Myeloid Sarcoma and Subsequently into B/Myeloid Mixed Phenotype Acute Leukemia

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Rui R. He ◽  
Zacharia Nayer ◽  
Matthew Hogan ◽  
Raymund S. Cuevo ◽  
Kimberly Woodward ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Lymphoblastic Leukemia ◽  
Bone Marrow Involvement ◽  
Bone Marrow Examination ◽  
Myeloid Sarcoma ◽  
Poor Prognostic Factor ◽  
Lineage Switch ◽  
Acute Myeloid

The presence of KMT2A/AFF1 rearrangement in B-lymphoblastic leukemia (B-ALL) is an independent poor prognostic factor and has been associated with higher rate of treatment failure and higher risk of linage switch under therapy. Blinatumomab has shown promising therapeutic results in refractory or relapsed B-ALL; however, it has potential risk of inducing lineage switch, especially in KMT2A/AFF1 rearranged B-ALL into acute myeloid leukemia and/or myeloid sarcoma. We report a 40-year-old female with KMT2A/AFF1-rearranged B-ALL that was refractory to conventional chemotherapy. Following administration of blinatumomab, she developed a breast mass proven to be myeloid sarcoma, in addition to bone marrow involvement by AML. Approximately six weeks after cessation of blinatumomab, a repeat bone marrow examination revealed B/myeloid MPAL.

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