Identification of New Markers Discriminating Between Myeloid and Lymphoid Acute Leukemia

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4891-4891
Author(s):  
Houda Haouas ◽  
Samira Haouas ◽  
Georges Uzan ◽  
Aicha Hafsia

Abstract The heterogeneity of acute myeloid leukemia (AML) with respect to biology and clinical course resides in the fact that patients belonging to the same group show marked differences in their response to chemotherapy, which would necessitate a refinement of AML classification. In order to contribute to define molecular markers for AML we realized microarray assays on two M5 AMLs and selected four differentially expressed genes to validate their expression by RQ-PCR. We have shown that two down-regulated genes in AML, Guanine nucleotide binding protein (G protein) gamma 11 (GNG11) and Amphiregulin are also down-regulated in B-ALL and T-ALL patients. We have found a gene, Ceruloplasmin, which is up-regulated in AML but not in B-ALL and T-ALL. The level of expression of these genes varies from one patient to another. Since the group of patients studied is limited, further studies must carry on with a larger series of patients to be able to make subdivision according to the expression of GNG11, Amphiregulin and Ceruloplasmin. Our study is the first to analyze these genes in AML, B-ALL, T-ALL and CL patients by quantitative real time PCR. This rapid and sensitive method could be used to screen these genes in different types of leukemia.

Author(s):  
Kumiko Yanagi ◽  
Noriko Morimoto ◽  
Manami Iso ◽  
Yukimi Abe ◽  
Kohji Okamura ◽  
...  

AbstractAuriculocondylar syndrome (ARCND) is an autosomal monogenic disorder characterised by external ear abnormalities and micrognathia due to hypoplasia of the mandibular rami, condyle and coronoid process. Genetically, three subtypes of ARCND (ARCND1, ARCND2 and ARCND3) have been reported. To date, five pathogenic variants of GNAI3 have been reported in ARCND1 patients. Here, we report a novel variant of GNAI3 (NM_006496:c.807C>A:p.(Asn269Lys)) in a Japanese girl with micrognathia using trio-based whole exome sequencing analysis. The GNAI3 gene encodes a heterotrimeric guanine nucleotide-binding protein. The novel variant locates the guanine nucleotide-binding site, and the substitution was predicted to interfere with guanine nucleotide-binding by in silico structural analysis. Three-dimensional computer tomography scan, or cephalogram, displayed severely hypoplastic mandibular rami and fusion to the medial and lateral pterygoid plates, which have been recognised in other ARCND1 patients, but have not been described in ARCND2 and ARCND3, suggesting that these may be distinguishable features in ARCND1.


2021 ◽  
Vol 12 ◽  
pp. 204062072097698
Author(s):  
Xiaoyan Han ◽  
Chunxiang Jin ◽  
Gaofeng Zheng ◽  
Yi Li ◽  
Yungui Wang ◽  
...  

Some subtypes of acute myeloid leukemia (AML) share morphologic, immunophenotypic, and clinical features of acute promyelocytic leukemia (APL), but lack a PML–RARA (promyelocytic leukemia–retinoic acid receptor alpha) fusion gene. Instead, they have the retinoic acid receptor beta (RARB) or retinoic acid receptor gamma (RARG) rearranged. Almost all of these AML subtypes exhibit resistance to all-trans retinoic acid (ATRA); undoubtedly, the prognosis is poor. Here, we present an AML patient resembling APL with a novel cleavage and polyadenylation specific factor 6 ( CPSF6) –RARG fusion, showing resistance to ATRA and poor response to chemotherapy with homoharringtonine and cytarabine. Simultaneously, the patient also had extramedullary infiltration.


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