Background and objective: The revised World Health Organization classification of 2016 for myeloid neoplasms and acute leukemia added a section of myeloid neoplasms with germline predisposition. The main objective of our study was to evaluate the frequency of hematologic and solid malignancies in the family history of patients with acute myeloid leukemia (AML) by using a systemic pedigree interview. The family history was taken of 50 patients between 24 and 80 years.
Findings: 8/50 (16%) patients with AML had family members with hematologic malignancies. 2/50 (4%) patients had family members of first degree with hematologic malignancies. Furthermore in 42/50 (84%) of AML patients solid malignancies were documented in family members of any degree and in 31/50 (62%) in family members of first degree. The most commonly occurring malignancies in our cohort were breast and colorectal cancer. We analyzed the pedigrees for cancer syndromes that can be associated with acute leukemia like Li-Fraumeni syndrome, Lynch syndrome and hereditary breast cancer. 2/50 (4%) patients fulfilled the criteria for familial breast and ovarian cancer from the German consortium and 1/50 (2%) patients fulfilled the Bethesda Guidelines criteria for hereditary nonpolyposis colorectal cancer. No pedigree met the criteria for Li-Fraumeni syndrome. In 29 cases we compared the patient history obtained in the routine work-up with our data. The accuracy of the obtained family history was 23%, outlining that in the clinical routine information about family histories often escapes notice.
Conclusion: Our study shows that though generally considered a sporadic disease, the presence of hematologic and solid malignancies in the family history of AML patients is relatively high. One should keep in mind that cancer syndromes like hereditary breast cancer are associated with a higher incidence of leukemia. These data are relevant in the context of family donor search for allogeneic stem cell transplantation, genetic counseling and testing as well as cancer prevention.