Acute monocytic leukaemia with t(11; 12) (p15; q13) chromosomal changes: A case report and literature review

Abstract

Abstract. Acute myeloid leukaemia (AML) is a type of heterogeneous disease derived from haematopoietic stem cells. Cytogenetic characterisation is essential for diagnosis and prognosis stratification. Here, we present the case of a 43-year-old female diagnosed with leukaemia, who demonstrated a rare chromosomal change of t(11; 12) (p15; q13) along with a positive FLT3-ITD mutation. The patient had a white blood cell count of 76.41x10 9 /l. Bone marrow morphology revealed that monoblasts accounted for 25.5% of cells, and premonocytes accounted for 49.0%. This patient strongly responded to idarubicin and Ara-c (cytarabine) chemotherapy, which rapidly eliminated the leukaemia cell clones. However, the proliferation rate of the leukaemia cells was high during the intermission of chemotherapy. Subsequently, following two courses of chemotherapy, full haematological remission could not be attained. AML patients with t(11; 12) (p15; q13) combined with FLT3-ITD mutations are expected to have a short life expectancy; however, early haematopoietic stem cell transplantation therapy may improve the treatment outcome for these patients.

Knockdown of p54nrb inhibits migration, invasion and TNF-α release of human acute monocytic leukemia THP1 cells

“…AML is a heterogeneous disease derived from haematopoietic stem cells. To identify new genes involved in tumor progress is important for the diagnosis and treatment of AML (19). In the present study, we analyzed the effects of p54 nrb silencing on the biological characteristics of human acute monocytic leukemia THP1 cells.…”

Generation of a MLL-AF9-specific stem cell model of acute monocytic leukemia

“…[1] This disease affects mostly young children less than 2 years old and has an incidence of 0.8-1.1 per million per year. [1] Patient with AML-M5 has poor prognosis with a 3-year disease-free survival rate of 25% and an overall survival rate of 35-60%. [2,3] Pathogenesis of AML-M5 is highly associated with the formation of MLL-AF9 fusion protein resulted from chromosomal translocation t(9;11)(p22;q23).…”

“…[1] AML-M5 is characterized by an overwhelming number of immature monocytic cells in the bone marrow and peripheral blood (>80% of monocytic cells). [1] This disease affects mostly young children less than 2 years old and has an incidence of 0.8-1.1 per million per year. [1] Patient with AML-M5 has poor prognosis with a 3-year disease-free survival rate of 25% and an overall survival rate of 35-60%.…”

“…[6] There is no effective and specific therapy against AML-M5 at the moment, probably due to limited understanding of the pathogenic mechanism of the disease. [1] Induced pluripotent stem cell (iPSC) is a type of pluripotent stem cell generated by exogenously introducing a group of pluripotency-associated transcription factors (OCT3/4, SOX2, KLF4 and c-MYC) into adult somatic cells, and eventually converting the somatic cells into pluripotent state. [7] IPSC has been generated from many cell types, including cancer cells.…”

Comment on Geoffroy, M.-C.; de Thé, H. Classic and Variants APLs, as Viewed from a Therapy Response. Cancers 2020, 12, 967

“…Interestingly, there is another group of AML with t(11;12)(p15;q13), of which the cell morphology is not promyelocyte type, but classified into M1, M2, M4, and M5 according to FAB classification. In the fusion gene of such cases, one partner gene is also NUP98 located on chromosome 11p15, and the other is one of HOXC ( HOXC11 , HOXC13 ) gene clusters [ 18 , 21 ]. It should be noted that a series of genes are densely distributed in the region of human chromosome 12q13, including RARG and HOXC .…”