Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events
Joint Authors
Yun, Seongseok
Katsanis, Emmanuel
Okolo, Onyemaechi N.
Reveles, Candace Y.
Anwer, Faiz
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-01-18
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Okolo, Onyemaechi N.& Katsanis, Emmanuel& Yun, Seongseok& Reveles, Candace Y.& Anwer, Faiz. 2017. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. Case Reports in Hematology،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1145892
Modern Language Association (MLA)
Okolo, Onyemaechi N.…[et al.]. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. Case Reports in Hematology No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1145892
American Medical Association (AMA)
Okolo, Onyemaechi N.& Katsanis, Emmanuel& Yun, Seongseok& Reveles, Candace Y.& Anwer, Faiz. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. Case Reports in Hematology. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1145892
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145892