title: Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events.
abstract: Objective and Importance.Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection.Case.A 25-year-old male diagnosed with CyN, on G-CSF but worsening quality of life. Pretransplant investigations revealed ELANE mutation positive severe CyN along with familial Mediterranean fever (MEFV) mutation.Intervention.Bone marrow transplantation as treatment for dual mutation (ELANE and MEFV mutation) positive severe CyN.Conclusion.BMT may be considered as an alternative treatment for severe CyN in patients who are refractory to G-CSF. It is postulated that in our patient the combined mutations (CyN and MEFV) may have contributed to the severity of this individual's symptoms. We suggest CyN patients who present with severe symptoms have evaluation with ELANE mutation testing, Periodic Fever Syndromes Panel, and routine marrow assessment with FISH, conventional cytogenetics, and morphological evaluation for MDS/AML.
authors.affiliation: Department of Medicine, University of Arizona, Tucson, AZ, USA.
authors.forename: Onyemaechi N
authors.identifier: 0000-0001-5576-2924
authors.initials: ON
authors.lastname: Okolo
authors.affiliation: Department of Medicine, University of Arizona, Tucson, AZ, USA; Department of Pediatrics, University of Arizona, Tucson, AZ, USA; Division of Blood & Marrow Transplantation, University of Arizona, Tucson, AZ, USA; Department of Pathology, University of Arizona, Tucson, AZ, USA.
authors.forename: Emmanuel
authors.identifier: 0000-0003-1466-6965
authors.initials: E
authors.lastname: Katsanis
authors.affiliation: Department of Medicine, University of Arizona, Tucson, AZ, USA.
authors.forename: Seongseok
authors.identifier: 0000-0001-7343-1635
authors.initials: S
authors.lastname: Yun
authors.affiliation: Department of Pathology, University of Arizona, Tucson, AZ, USA.
authors.forename: Candace Y
authors.identifier: 0000-0002-3759-5699
authors.initials: CY
authors.lastname: Reveles
authors.affiliation: Department of Pediatrics, University of Arizona, Tucson, AZ, USA; Division of Hematology and Oncology, University of Arizona, Tucson, AZ, USA.
authors.forename: Faiz
authors.identifier: 0000-0001-6914-7439
authors.initials: F
authors.lastname: Anwer