Chronic lymphocytic leukemia

It is one of the most common hematologic malignancies, and is characterized by the presence of uncontrolled proliferation of B lymphocytes. It is the most frequent subtype of leukemia in adults in Western countries with an average incidence of 12 cases per 100,000 individuals per year, which increases exponentially with age and with a highly variable prognosis.

The exact causes that initiate the process of uncontrolled B-lymphocyte proliferation are unknown. Studies have identified important chromosomal changes in the development of CLL, but it is not yet clear which genes are involved or exactly how they lead to leukemia. It has also been noted that the DNA changes associated with CLL usually occur throughout a person's life, rather than being passed on from the parents (inherited). However, the following have been described as factors that may increase the risk of CLL:

  • The disease mainly affects older adults, usually from the age of 60 years onwards.
  • It is slightly more common in men than in women.
  • People of Caucasian ancestry are more likely to develop chronic lymphocytic leukemia than others such as Asians.
  • Exposure to chemicals such as herbicides (agent orange) and insecticides or pesticides have been associated with increased risk.
  • Monoclonal B-cell lymphocytosis causes an increase in the number of B-cells, which may favor the development of chronic lymphocytic leukemia.

Symptoms

More than 80% of patients with CLL have no symptoms and CLL is diagnosed by a routine blood test or by chance. In the rest of the cases, the main symptoms may be:

  • Asthenia, fatigue, weight loss.
  • Adenopathy or enlarged lymph nodes.
  • Repeated infections.

Occasionally the spleen (splenomegaly) or liver (hepatomegaly) may be enlarged and may cause abdominal discomfort. Unlike in other blood neoplasms, fever, night sweats and weight loss are rare.

Prevention

There are very few known risk factors for chronic lymphocytic leukemia, and most of them cannot be avoided, beyond having first-degree relatives.

Number of observed variants

13.5 million variants

Number of risk loci

36 loci

Genes analyzed

BAK1 BANK1 BCL2 BCL2L11 BMF C11orf21 CAMK2D CASP10 CDKN2B CXXC1 DACT3 ENPP6 EOMES FARP2 FAS GPR37 GRAMD1B HLA-DQA1 ID3 ILRUN IPCEF1 IRF4 IRF8 LEF1 MNS1 OAS3 ODF3B OPRM1 POU5F1B QPCT RHOU RPLP1 SP140 TERT TMPRSS5 ZBTB7A

Bibliography

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