What is the prognosis for ASXL1 mutation? (2024)

What is the prognosis for ASXL1 mutation?

Patients with ASXL1 mutations had a lower complete remission rate (56% versus 74%; P=0.0002), and both inferior event-free survival (at 5 years: 15.9% versus 29.0%; P=0.02) and overall survival (at 5 years: 30.3% versus 45.7%; P=0.0004) compared to patients with wildtype ASXL1.

What is the prognosis for ASXL1?

ASXL1 mutations were an unfavorable prognostic factor as regards survival (median overall survival 15.9 months vs. 22.3 months; P=0.019), with a significantly lower complete response rate (61% vs. 79.6%; P=0.004).

What does ASXL1 mutation mean?

Mutations in the ASXL1 gene have been associated with cancerous conditions of blood-forming cells, such as acute myeloid leukemia, chronic myelomonocytic leukemia, and myelodysplastic syndrome.

What cancer is ASXL1 gene?

Overview. ASXL1 is altered in 4.42% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, acute myeloid leukemia, and myelodysplastic syndromes having the greatest prevalence of alterations [3].

What is the ASXL1 mutation in CLL?

ASXL1 is altered in 1.86% of chronic lymphocytic leukemia/small lymphocytic lymphoma patients with ASXL1 Mutation present in 1.18% of all chronic lymphocytic leukemia/small lymphocytic lymphoma patients [4].

What is the most rare type of leukemia?

Prolymphocytic leukemia (PLL).

A rare, aggressive blood cancer that affects the body's B-cells or T-cells.

What is the most common mutation in leukemia?

NPM1 mutations are found in about 30% of all AML and 50%–60% of AML with a normal karyotype making it the most common genetic mutation in AML [3]. NPM1 rarely occurs with the any of the recurrent genetic abnormalities, BCOR, or CEBPA but frequently co-exist with FLT3, DNMT3A, and IDH [17,18,19].

What is the prevalence of ASXL1?

In a prior, large study of 501 patients with unselected AML, Chou et al. found ASXL1 mutations in 10.8% of the patients. The incidence of ASXL1 mutations in that study increased significantly with age; ASXL1 mutations occurred in 6.4% of patients <60 years, but in 18% of patients ≥60 years.

Is ASXL1 a tumor suppressor?

Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals. Cell Res.

What is the ASXL1 mutation in MDS?

In MDS, loss‐of‐function mutations were found in the ASXL1 gene by aCGH analysis. These are typically nonsense or frame‐shift mutations in heterozygosis in the last exon of the gene, which truncate the protein before the C‐terminal PHD domain, resulting in a haploinsufficiency or a dominant negative effect.

What is ASXL1 in myelofibrosis?

Additional sex combs like 1 (ASXL1) mutations are one of the most common molecular biological abnormalities in patients with primary myelofibrosis (PMF), and the effect of these mutations on prognosis remains controversial.

What is the role of ASXL1 mutations in hematological cancers?

One of the frequently mutated genes in clonal hematopoiesis is ASXL1, which is thought to act as a regulator for how genes are activated. In patients with leukemia, the presence of a mutation in ASXL1 is associated with very poor prognosis including poor treatment response.

What are the domains of ASXL1?

The ASXL1 gene maps the human chromosome 20q11, a region commonly altered in cancer. ASXL1 contains an N-terminal ASX hom*ology (ASXH) domain and a C-terminal plant homeodomain (PHD). Recent studies have highlighted a critical role of PHD domains in leukemia.

What is the most common genetic abnormality in CLL?

Deletions of the long arm of chromosome 13 involving 13q14: microRNAs impairing apoptosis? Deletions of chromosome 13 are the most frequent karyotype alterations in CLL.

What is a rare form of CLL?

Hairy cell leukemia (HCL) is a rare type of blood cancer characterized by abnormal changes in white blood cells known as B lymphocytes. The bone marrow creates too many of these defective cells, known as “hairy cells” because of the thin hair-like projections found on their surface.

What virus causes CLL?

Epstein-Barr virus (EBV) is a γ-herpesvirus harbored by the great majority of adults worldwide, resulting in life-long infection [1]. Following primary infection, EBV remains latent in memory B-cells, and confined by EBV-specific cytotoxic T lymphocytes in the healthy host [2].

Which leukemia has poor prognosis?

Chronic lymphocytic leukemia (CLL) 5-year survival rate is 88%. Acute lymphocytic leukemia (ALL) 5-year survival rate is 71.3%. Chronic myeloid leukemia (CML) 5-year survival rate is 70.6%. Acute myeloid leukemia (AML) 5-year survival rate is 31.7%.

Which leukemia is not curable?

Chronic lymphocytic leukaemia (CLL) often develops very slowly. You might need little or no treatment. Although it is not usually curable, the disease can be under control for many years.

How long can you live with chronic lymphocytic leukemia?

CLL is the most common form of leukemia found in adults in Western countries. Some patients die within several years of diagnosis, usually due to complications from CLL, but most patients survive for at least five years. Peripheral smear from a patient with chronic lymphocytic leukemia, small lymphocytic variety.

Which mutation causes most cancers?

The most common tumor suppressor gene that mutates in people with cancer is p53 or TP53. This gene is missing or damaged in more than half of all cancers.

What does it mean when leukemia has mutated?

Gene mutations that “turn on” oncogenes or “turn off” tumor suppressor genes can cause bone marrow cells, particularly immature WBCs, to grow out of control. As these unhealthy cells continue to divide and grow, they develop into acute leukemia.

What is the gene that causes leukemia?

People who inherit changes in the RUNX1 gene can face a higher risk of acute myeloid leukemia (AML). The RUNX1 mutation can also cause the carrier to have a lower platelet count, which plays an important role in blood clotting.

What is the location of ASXL1?

Which of the following is the most common type of leukemia in the United States?

Acute Lymphocytic Leukemia (ALL)

Acute lymphocytic leukemia is the most common kind of leukemia. It usually occurs in young children but can also occur in adults. It's sometimes called acute lymphoblastic leukemia. ALL starts in the lymphoid cells of the bone marrow.

How many Americans have CML?

About 1 person in 526 will get CML in their lifetime in the United States. The average age at diagnosis of CML is around 64 years. Almost half of cases are diagnosed in people 65 and older. This type of leukemia mainly affects adults, and is rarely seen in children.