An Investigation Of A Family With Inherited Cancer Susceptibility Syndromes And Leukemia Predisposition

Familial leukemia is closely related to genetic factors and thus has its unique value in research. The exploration of the genetic foundation of familial leukemia will help to reveal the pathogenesis of leukemia.【 Objective 】 A thorough research including pedigree, medical history and environment investigation was performed on a family with multi-cases of leukemia to describe the rule of disease transmitting in this family and initially explore the underlining molecular mechanism.【Method】1.A summary of the family history was collected and a pedigree was drawn before formal investigation;2.Questionnaire inquiry, general physical examination,routine blood test and sampling were conducted on 58 family members. The questionnaire consists of three parts: medical history,exposure history, and the local environment. Among the 58 members, 36 were at high risk of malignance and thus were examined by Chest X-ray, abdominal-organ Doppler ultrasound(including liver, gallbladder, pancreas, spleen and bilateral kidney)and tumor marker test;3.The data gathered from the survey was analyzed and the family members at high-risk of disease were identified,follow-up plans were established for the members who has the abnormal test result.【Result】1. Through the collection of medical history,4 cases of leukemia,4 cases of solid tumor,1 case of spinal cavernous hemangioma, 1 cases of congenital heart disease,1 cases of death within 1 year after the birth because of “bloating” and 3cases of death within 1 year after the birth with unexplained reason were found in this predigree。Most of family members live on farming and never engaged in work close contact with benzene. No industrial pollution and radioactive materials in the living environment.No similar history of leukemia aggregation found in the surrounding population of family members,residence environment.2. 27 family members were found superficial lymph nodes by routine examination(diameter of the lymph node between 0.5-1cm);3.19 family members were found abnormalhemogram of varying degrees through routine blood test and 7 of them are high risk members;4.3 members were found high tumor markers through tumor markers test;5.8 members were fatty liver through abdominal-organ Doppler ultrasound,chest X-ray examination did not find any abnormalities.【 Conclusion 】 1.The study is concerned with a family with inherited cancer susceptibility syndromes and leukemia predisposition and has nothing to do with environment factor. The disease is autosomal dominant in this predigree and there are many obligated carriers who carry the pathogenic gene and have not suffer from disease.2. Long term follow-up, sampling and management for leukemia family are the basis for studying the genetic factors of familial leukemia, and provide valuable genetic resources for studying the occurrence and development of sporadic leukemia.