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Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
- Source :
- Biomarker Research, Biomarker Research, Vol 6, Iss 1, Pp 1-3 (2018)
- Publication Year :
- 2018
- Publisher :
- BioMed Central, 2018.
-
Abstract
- Background Myelodysplastic syndromes and acute myeloid leukemia usually occur sporadically in older adults. More recently cases of familial acute myeloid leukemia and/or myelodysplastic syndrome have been reported. Case presentation Currently we report a father and son who both developed myelodysplastic syndrome that progressed to acute myeloid leukemia. Both patients were found to have the identical mutation of ASXL1 on nextgen sequencing of both hematologic and nonhematologic tissues. Conclusions These cases support the diagnosis of a germline mutation of ASXL1.
- Subjects :
- 0301 basic medicine
Nextgen sequencing
business.industry
Myelodysplastic syndromes
lcsh:RM1-950
Biochemistry (medical)
Clinical Biochemistry
Myeloid leukemia
Familial acute myeloid leukemia
Case Report
ASXL1
medicine.disease
03 medical and health sciences
lcsh:Therapeutics. Pharmacology
030104 developmental biology
0302 clinical medicine
Germline mutation
030220 oncology & carcinogenesis
hemic and lymphatic diseases
Mutation (genetic algorithm)
Cancer research
Molecular Medicine
Medicine
Familial myelodysplastic syndrome
business
Subjects
Details
- Language :
- English
- ISSN :
- 20507771
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Biomarker Research
- Accession number :
- edsair.doi.dedup.....67cbbf66d64f79797b8a2a3001769448