What is CBFB MYH11?

What is CBFB MYH11?

CBFB–MYH11 rearrangement is a typical class II mutation leading to inhibition of the CBF transcription factor complex, thereby blocking early myeloid differentiation.

What is CBFB MYH11 Fusion?

Mouse models indicate that the fusion gene, Cbfb-MYH11, inhibits differentiation of hematopoietic cells. Although expression of Cbfb-MYH11 is not sufficient for leukemogenesis, a combination of Cbfb-MYH11 and additional mutations can lead specifically to the development of myeloid leukemia.

What is core binding factor AML?

Core binding factor (CBF) is a heterodimeric protein complex involved in the transcriptional regulation of normal hematopoiesis. Mutations in CBF-encoding genes result in leukemogenic proliferative advantages and impaired differentiation of the hematopoietic progenitors.

What is PML Rara?

Promyelocytic leukemia/retinoic acid receptor alpha or PML-RARA refers to an abnormal fusion gene sequence. It is a specific rearrangement of genetic material from two separate chromosomes (chromosomal translocation) and is associated with a specific type of leukemia.

What does INV 16 mean?

The inv(16) is one of the most frequent chromosomal translocations associated with acute myeloid leukemia (AML). The inv(16) fusion protein acts by dominantly interfering with AML-1/core binding factor β-dependent transcriptional regulation.

What is CBF in AML?

Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia.

What causes APL?

APL is caused by the uncontrolled proliferation of promyelocytes, a type of immature cell from the myeloid lineage of blood cells. The hallmark of APL is genetic alterations involving the retinoic acid receptor alpha (RARA) gene.

What causes PML-RARA?

The PML-RARA fusion gene sequence is one such acquired change (mutation) that is formed when pieces of chromosome 15 and chromosome 17 break off and switch places (translocate). The PML gene region in chromosome 15 then fuses with the RARA gene region in chromosome 17.

What is APL disease?

Acute promyelocytic leukemia (APL) is an aggressive type of acute myeloid leukemia in which there are too many immature blood-forming cells (promyelocytes) in the blood and bone marrow. This build up of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body.

How AML is diagnosed?

To confirm a diagnosis of AML, a small sample of your bone marrow will be taken to examine under a microscope. This procedure is known as a bone marrow biopsy. The doctor or nurse will numb an area of skin at the back of your hip bone, before using a thin needle to remove a sample of liquid bone marrow.

What is the treatment for APL?

The most important drugs for treating APL are non-chemo drugs called differentiating agents, like all-trans-retinoic acid (ATRA). Other treatments might include chemotherapy (chemo) and transfusions of platelets or other blood products.

When to use cbfb-myh11 inv ( 16 ) Test?

Recommendations when to order or not order the test. May include related or preferred tests. Use to detect and quantitate CBFB-MYH11 inv (16) fusion transcripts. Use to monitor for minimal residual disease and assess the risk of disease relapse. Unique test identifier.

What happens when CBFB and MYH11 are fused?

The fusion of CBFB and MYH11 disrupts normal core-binding factor function. This interrupts normal myeloid hematopoiesis and is often associated with a distinct type of AML characterized by abnormal bone marrow eosinophils.

Can a combination of cbfb-myh11 lead to leukemogenesis?

Although expression of Cbfb-MYH11 is not sufficient for leukemogenesis, a combination of Cbfb-MYH11 and additional mutations can lead specifically to the development of myeloid leukemia. Normally, CBFbeta interacts with CBFalpha to form a transcriptionally active nuclear complex.

How does the cbfb-myh11 gene affect RUNX1?

The CBFB-MYH11 gene product exerts a dominant negative effect on RUNX1, and can recruit nuclear corepressors to inhibit transcription of CBF gene targets.