Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence


Cancers arise from multiple acquired mutations, which presumably occur over many years. Early stages in cancer development might be present years before cancers become clinically apparent.


We analyzed data from whole-exome sequencing of DNA in peripheral-blood cells from 12,380 persons, unselected for cancer or hematologic phenotypes. We identified somatic mutations on the basis of unusual allelic fractions. We used data from Swedish national patient registers to follow health outcomes for 2 to 7 years after DNA sampling.[1]

Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium

A recent genome-wide association study (PanScan) identified significant associations at the ABO gene locus with risk of pancreatic cancer, but the influence of specific ABO genotypes remains unknown. We determined ABO genotypes (OO, AO, AA, AB, BO, and BB) in 1,534 cases and 1,583 controls from 12 prospective cohorts in PanScan, grouping participants by genotype-derived serologic blood type (O, A, AB, and B). Adjusted odds ratios (ORs) for pancreatic cancer by ABO alleles were calculated using logistic regression.[2]

DNA Fragments in the Blood Plasma of Cancer Patients: Quantitations and Evidence for Their Origin from Apoptotic and Necrotic Cells

Increased levels of DNA fragments have frequently been found in the blood plasma of cancer patients. Published data suggest that only a fraction of the DNA in blood plasma is derived from cancer cells. However, it is not known how much of the circulating DNA is from cancer or from noncancer cells. By quantitative methylation-specific PCR of the promoter region of the CDKN2A tumor suppressor gene, we were able to quantify the fraction of plasma DNA derived from tumor cells. In the plasma samples of 30 unselected cancer patients, we detected quantities of tumor DNA from only 3% to as much as 93% of total circulating DNA. [3]

Analysis of O6 -Methylguanine in Cancer Patient Blood during Administration of Cyclophosphamide Using Ultra High Performance Liquid Chromatography-Tandem Mass Spectrometry

Aims: To determine O6 -Methylguanine in Cancer Patient Blood during Administration of Cyclophosphamide using Ultra High Performance Liquid Chromatography-Tandem Mass Spectrometry.[4]

Visual and Auditory Complications of Chronic Myeloid Leukemia: A Case Report

Hearing loss and visual impairment are not common presentations of Chronic Myeloid Leukemia (CML). We report such a case who presented in the chronic phase with profound hearing loss, visual impairment, progressively enlarging spleen, anaemia, and weight loss. Laboratory evaluation showed Packed Cell Volume – 10%, Total White Cell Count – 1,343 x 109 / L, Platelets – 589 x 109 / L. Blood chemistry showed Uric Acid level of 530mmol/L. Karyotyping showed the Philadelphia chromosome. Chemotherapy was instituted and she improved remarkably with minimal improvement in perception of sound. .[5]



[1] Genovese, G., Kähler, A.K., Handsaker, R.E., Lindberg, J., Rose, S.A., Bakhoum, S.F., Chambert, K., Mick, E., Neale, B.M., Fromer, M. and Purcell, S.M., 2014. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. New England Journal of Medicine, 371(26), pp.2477-2487.

[2] Wolpin, B.M., Kraft, P., Gross, M., Helzlsouer, K., Bueno-de-Mesquita, H.B., Steplowski, E., Stolzenberg-Solomon, R.Z., Arslan, A.A., Jacobs, E.J., LaCroix, A. and Petersen, G., 2010. Pancreatic cancer risk and ABO blood group alleles: results from the pancreatic cancer cohort consortium. Cancer research70(3), pp.1015-1023.

[3] Jahr, S., Hentze, H., Englisch, S., Hardt, D., Fackelmayer, F.O., Hesch, R.D. and Knippers, R., 2001. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer research61(4), pp.1659-1665.

[5] Ejele, O.A., Omunakwe, H.E., Iyalla, C., da Lilly-Tariah, O.B. and Pedro-Egbe, C.N., 2013. Visual and auditory complications of chronic myeloid leukemia: a case report. Journal of Advances in Medicine and Medical Research, pp.566-572.