title: Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome.
abstract: Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MDS, specifically therapy-related MDS (t-MDS) cases. Patients with t-MDS, a group of heterogeneous stem cell related disorders resulting as a latent complication of cytotoxic and/or radiation therapy, generally tend to have a poorer prognosis than de novo MDS. We present a unique case of a patient who initially presented with acute myeloid leukemia (AML) with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15)(q12;q15), three years after transplant. To our knowledge, this unique sole translocation has never been reported in MDS or t-MDS and given her successful response to treatment and remission, presence of this translocation may have some prognostic value.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USA.
authors.forename: Saba F
authors.initials: SF
authors.lastname: Ali
authors.affiliation: Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USA.
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: Sonu
authors.affiliation: Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USA.
authors.forename: Denis M
authors.initials: DM
authors.lastname: Dwyre
authors.affiliation: Department of Internal Medicine, Division of Hematology and Oncology, University of California Davis Medical Center, Sacramento, CA 95817, USA.
authors.forename: Brian A
authors.initials: BA
authors.lastname: Jonas
authors.affiliation: Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USA.
authors.forename: Hooman H
authors.initials: HH
authors.lastname: Rashidi