scholarly journals A rare case of acute myeloid leukemia with ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) fusion gene in an elderly patient

2020 ◽  
Vol 28 (1) ◽  
pp. 99-106
Author(s):  
Ioan Macarie ◽  
Florin Tripon ◽  
Bogdana Dorcioman ◽  
Melania Macarie
Keyword(s):  
Elderly Patient ◽  
Acute Myeloid Leukemia ◽  
Peripheral Blood ◽  
Myeloid Leukemia ◽  
Blood Smear ◽  
Group Performance ◽  
Fusion Gene ◽  
Peripheral Blood Smear ◽  
Rt Pcr ◽  
Acute Myeloid

AbstractIntroduction. We report one elderly patient diagnosed with a rare subtype of acute myeloid leukemia (AML) and also with a very rare fusion gene involving ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) genes.Material and methods. Clinical examination and routine analysis were performed including peripheral blood smear, immunophenotyping of the peripheral blood by flow cytometry and several molecular analyses.Results. Peripheral blood smear showed 80% blasts with round and some with convoluted nuclei, with basophilic cytoplasm, identified as monoblast and the majority of cells as promonocytes. Peripheral blood immunophenotyping was consistent with monocytic differentiation. Molecular analysis was negative for FLT3 ITD, FLT3 D835, NPM1, and DNMT3A R882 mutations. Multiplex ligation-dependent probe amplification revealed no copy number aberration. Ligation-dependent reverse transcription polymerase chain reaction (LD-RT-PCR) analysis identified the presence of one gene fusion between ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) genes. The patient had no significant comorbidities, the renal function was normal and Eastern Cooperative Oncology Group performance status was 2 at diagnosis and 1 after treatment. She was treated with decitabine. She became transfusion independent and a reduction of the number of blasts was obtained.Conclusions. The outcome of our AML patient was favorable but other patients with fusion genes involving ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) should be reported, contributing to a better characterization of the disease, to monitor the minimal residual disease and in the end to more targeted treatment options. LD-RT-PCR represent a valuable multiplex technique for fusion gene analysis.

A CLINICOPATHOLOGICAL STUDY OF ACUTE AND CHRONIC LEUKEMIA IN A TERTIARY CARE HOSPITAL

2021 ◽  
pp. 72-74
Author(s):  
Sarat Das ◽  
Prasanta Kr. Baruah ◽  
Sandeep Khakhlari ◽  
Gautam Boro
Keyword(s):  
Acute Myeloid Leukemia ◽  
Acute Lymphoblastic Leukemia ◽  
Peripheral Blood ◽  
Myeloid Leukemia ◽  
Blood Smear ◽  
Lymphoblastic Leukemia ◽  
Peripheral Blood Smear ◽  
Care Hospital ◽  
Cytochemical Study ◽  
Acute Myeloid

Introduction: Leukemias are neoplastic proliferations of haematopoietic stem cells and form a major proportion of haematopoietic neoplasms that are diagnosed worldwide. Typing of leukemia is essential for effective therapy because prognosis and survival rate are different for each type and sub-type Aims: this study was carried out to determine the frequency of acute and chronic leukemias and to evaluate their clinicopathological features. Methods: It was a hospital based cross sectional study of 60 patients carried out in the department of Pathology, JMCH, Assam over a period of one year between February 2018 and January 2019. Diagnosis was based on peripheral blood count, peripheral blood smear and bone marrow examination (as on when available marrow sample) for morphology along with cytochemical study whenever possible. Results: In the present study, commonest leukemia was Acute myeloid leukemia (AML, 50%) followed by Acute lymphoblastic leukemia (ALL 26.6%), chronic myeloid leukemia (CML, 16.7%) and chronic lymphocytic leukemia (CLL, 6.7%). Out of total 60 cases, 36 were male and 24 were female with Male:Female ratio of 1.5:1. Acute lymphoblastic leukemia was the most common type of leukemia in the children and adolescents. Acute Myeloid leukemia was more prevalent in adults. Peripheral blood smear and bone Conclusion: marrow aspiration study still remains the important tool along with cytochemistry, immunophenotyping and cytogenetic study in the diagnosis and management of leukemia.

scholarly journals Odynophagia: A Rare Presenting Symptom in Acute Myeloid Leukemia (FAB AML - M2)

2021 ◽  
Vol 6 (1) ◽  
pp. 1419-1421
Author(s):  
Sudip Yadav ◽  
Neeta Kafle ◽  
Sulav Sapkota
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Peripheral Blood ◽  
Myeloid Leukemia ◽  
Blood Smear ◽  
Peripheral Blood Smear ◽  
Bone Marrow Examination ◽  
Solid Foods ◽  
Post Menopausal ◽  
Acute Myeloid

Acute myeloid leukemia is more common in adults than in children population. Fatigue, bleeding and fever are the most common presentations. Petechiae, gingival swelling, lymphadenopathy and hepatosplenomegaly are common signs. Here we report a case of a 57 years post-menopausal lady with gum swelling and pain on deglutition for both liquid and solid foods. She was diagnosed with a case of AML- M2 on the basis of peripheral blood smear and bone marrow examination findings.

scholarly journals Visceral leishmaniasis in acute myeloid leukemia revealed on peripheral blood smear

2018 ◽  
Vol 6 (8) ◽  
pp. 1627-1628
Author(s):  
Maxime Moniot ◽  
Maxime Loyens ◽  
Charles Mary ◽  
Coralie L’Ollivier
Keyword(s):  
Acute Myeloid Leukemia ◽  
Visceral Leishmaniasis ◽  
Peripheral Blood ◽  
Myeloid Leukemia ◽  
Blood Smear ◽  
Peripheral Blood Smear ◽  
Acute Myeloid

Molecular quantitation of minimal residual disease in acute myeloid leukemia with t(8;21) can identify patients in durable remission and predict clinical relapse

Blood ◽  
2000 ◽  
Vol 95 (3) ◽  
pp. 815-819 ◽  
Author(s):  
K. Tobal ◽  
J. Newton ◽  
M. Macheta ◽  
J. Chang ◽  
G. Morgenstern ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Residual Disease ◽  
Fusion Gene ◽  
Clinical Relapse ◽  
Rt Pcr ◽  
Multicenter Studies ◽  
Degradation Rates ◽  
Durable Remission ◽  
Acute Myeloid

One of the most common translocations in acute myeloid leukemia (AML) is the t(8;21), which produces the fusion gene AML1-MTG8. We have developed a sensitive competitive reverse transcriptase-polymerase chain reaction (RT-PCR) assay forAML1-MTG8 transcripts, coupled with a competitive RT-PCR for the ABL transcript as a control to accurately estimate the level of amplifiable RNA. We have shown that AML1-MTG8 andABL transcripts have equal degradation rates. Thus, this method is useful for multicenter studies. We studied 25 patients with t(8;21) AML by means of serial analysis done on bone marrow (BM) and peripheral blood (PB) samples from 21 patients. Our analysis showed that, in general, a successful induction chemotherapy produces a reduction of 2 to 3 log in the level of AML1-MTG8, followed by a further 2 to 3 log after consolidation/intensification chemotherapy. Levels up to 1 × 103 and 1 × 102 molecules/μg of RNA in BM and PB, respectively, were compatible with durable remission. On the other hand, 5 patients with levels of 0.71 × 105to 2.27 × 105 molecules/μg of RNA in BM and 2.27 × 103 to 2.27 × 104 molecules/μg of RNA in PB had hematologic relapse within 3 to 6 months. Our data indicate that serial quantitation of AML1-MTG8 transcripts is useful in identifying patients at high risk of relapse and may offer an opportunity for clinical intervention to prevent hematologic relapse. This approach was applied successfully in a patient who had an allogeneic BM transplantation. We also suggest that PB may be used an alternative to BM for quantitating AML1-MTG8 transcripts.

AML1-ETO9a Correlated with C-KIT Overexpression/Mutation and Indicated Poor Disease Outcome in t(8;21) Acute Myeloid Leukemia.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1822-1822
Author(s):  
Yang Liang ◽  
Bo Jiao ◽  
Chuan-Feng Wu ◽  
Shu-Min Xiong ◽  
Long-Jun Gu ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Chromosome Translocation ◽  
Disease Outcome ◽  
Rt Pcr ◽  
Cell Counts ◽  
Short Overall Survival ◽  
White Blood Cell Counts ◽  
Acute Myeloid

Abstract AML1-ETO fusion gene is generated from chromosome translocation t(8;21) in acute myeloid leukemia (AML). It is recently reported that its spliced variant AML1-ETO9a induced leukemia rapidly in murine model. Here we detected AML1-ETO9a expression in 58 of 71 (81.7%) patients with t(8;21) AML by using qualitative RT-PCR. Quantitative RT-PCR revealed significantly higher C-KIT levels in the AML1-ETO9a positive group than in the negative group (P=0.0001). Among 29 cases harbored C-KIT mutations, 28 (96.6%) expressed AML1-ETO9a. Clinically, patients expressing AML1-ETO9a exhibited significantly elevated white blood cell counts and a short overall survival time (P=0.0455 and 0.0039, respectively). Morphologically, although there is no difference of leukemic blasts percentage between AML1-ETO9a positive and negative cases (P=0.1169), the latter possessed more aberrant myelocytes (P=0.0462). Taken together, AML1-ETO9a correlated with C-KIT overexpression/mutation and indicated poor disease outcome in t(8;21) AML.

A NUP98-HOXD13 Fusion Gene Induces a Transplantable Myelodysplastic Syndrome in Mice.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 401-401
Author(s):  
Yang Jo Chung ◽  
Chul Won Choi ◽  
Christopher Slape ◽  
Terry Fry ◽  
Peter D. Aplan
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Stem Cell ◽  
Hematopoietic Stem Cell ◽  
Peripheral Blood ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Hematopoietic Stem ◽  
Significant Difference ◽  
Acute Myeloid

Abstract The myelodysplastic syndromes (MDSs) are a group of hematologic stem cell disorders characterized by ineffective hematopoiesis and dysplasia. A large number of chromosomal aberrations including deletions, amplifications, inversions, and translocations, some of which involve the NUP98 gene, have been associated with MDS. Recently an MDS mouse model expressing a NUP98-HOXD13 (NHD13) fusion gene was developed, which faithfully recapitulates all of the key features of MDS. Although it is well-established that acute myeloid leukemia (AML) is transplantable, there is no evidence that MDS is a transplantable condition. Therefore, in order to develop evidence for MDS as a hematopoietic stem cell (HSC) disease, we attempted to transfer MDS to normal recipients through bone marrow transplantation (BMT). All the recipients transplanted with bone marrow (BM) cells from NHD13 mice with MDS showed anemia, leukopenia, lymphopenia, and neutropenia when compared to recipients of wild-type (WT) littermates. The homing efficiency of the NHD13 primitive progenitor cells (Lineage negative [Lin−], Sca-1+) was about 2 fold higher than WT, and there was no significant difference in BM cellularity between the recipients of NHD13 and WT BM, indicating that the NHD13 recipients had ineffective hematopoiesis. These phenomena were reproduced in secondary recipients using primary recipients of NHD13 BM as donor mice. In secondary transplantation assays, 3 out of 5 recipients developed acute myeloid leukemia (AML) at 16 weeks post-transplantation. Morphological features of MDS, including nuclear-cytoplasmic asynchrony, binucleate cells, hypersegmented neutrophils, and giant platelets were detected in BM and peripheral blood of NHD13 donor, primary and secondary recipients by cytospin preparations. In competitive repopulation assays, mice transplanted with equal numbers of WT and NHD13 BM cells showed a decreased percentage of NHD13 cells in the peripheral blood, but an increased percentage of NHD13 cells in the BM, again providing evidence of ineffective hematopoiesis of the NHD13 cells. The transplantation of lineage depleted cells from BM has shown that the transplantable cells for MDS reside in the Lin− population of NHD13 BM. These findings demonstrate that MDS can be transferred to healthy recipients by BMT, supporting the concept that MDS originates in a transplantable multilineage hematopoietic stem cell.

scholarly journals First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Weijia Fu ◽  
Aijie Huang ◽  
Hui Cheng ◽  
Yanrong Luo ◽  
Lei Gao ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
De Novo ◽  
Fusion Gene ◽  
High Dose ◽  
Rt Pcr ◽  
Hematopoietic Stem ◽  
First Report ◽  
De Novo Aml ◽  
Acute Myeloid

Abstract Background The nucleoporin 98 (NUP98)-paired related homeobox 1 (PMX1) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid leukemia in the accelerated phase or blast crisis and three cases of therapy-related AML have been reported. Here, we first report a patient with de novo AML carrying the NUP98-PMX1 fusion gene. Case presentation A 49-year-old man diagnosed with AML presented the karyotype 46,XY,t(1;11)(q23;p15)[20] in bone marrow (BM) cells. Fluorescence in situ hybridization analysis using dual-color break-apart probes showed the typical signal pattern. Reverse transcription-polymerase chain reaction (RT-PCR) analysis suggested the presence of the NUP98-PMX1 fusion transcript. The patient received idarubicin and cytarabine as induction chemotherapy. After 3 weeks, the BM aspirate showed complete remission, and the RT-PCR result for the NUP98-PMX1 fusion gene was negative. Subsequently, the patient received three cycles of high-dose Ara-c as consolidation chemotherapy, after which he underwent partially matched (human leukocyte antigen–DP locus mismatch) unrelated allogeneic hematopoietic stem cell transplantation (HSCT). The follow-up period ended on September 30, 2020 (6 months after HSCT), and the patient exhibited no recurrence or transplantation-related complications. Conclusion This is the first report of a patient with de novo AML carrying the NUP98-PMX1 fusion gene. The reported case may contribute to a more comprehensive profile of the NUP98-PMX1 rearrangement, but mechanistic studies are warranted to fully understand the role of this fusion gene in leukemia pathogenesis.

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