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Hematogones in the Peripheral Blood of a 5½-Month-Old Boy with Cyclic Neutropenia Due to Heterozygous, Novel ELANE Gene Mutation p.Q97P, c.290 A>C
- Source :
- Pediatric and Developmental Pathology. 17:393-399
- Publication Year :
- 2014
- Publisher :
- SAGE Publications, 2014.
-
Abstract
- We have identified a novel point mutation in the ELANE gene of a 5.5-month-old boy with severe cyclic neutropenia, and we are reporting for the first time, to our knowledge, the presence of hematogones in the peripheral blood of an infant. The novel point mutation occurred at base number 290 in codon 97, where adenine was replaced with cytosine. The mutation caused the replacement of amino acid glutamine with amino acid proline in the activation domain of the elastase 2 enzyme. The heterozygous mutation generated severe cyclic neutropenia, granulocytic maturation arrest, an increased number of hematogones (26% of marrow cells) in the bone marrow, an absence of neutrophils, and the presence of stage 3 (mature) hematogones in the peripheral blood. The percentage of hematogones in the peripheral blood was inversely proportional to the absolute number of neutrophils. Leukemic number of blast-like cells (hematogones) in the bone marrow, blast-like cells in the peripheral blood, marked neutropenia, and the arrest of granulopoiesis might suggest an acute leukemia. However, the finding of characteristic flow cytometric features of hematogones should help to avoid a wrong diagnosis.
- Subjects :
- Male
Heterozygote
Neutropenia
Biology
Granulopoiesis
Pathology and Forensic Medicine
03 medical and health sciences
Cyclic neutropenia
0302 clinical medicine
medicine
Humans
Point Mutation
Genetic Predisposition to Disease
Genetic Testing
Acute leukemia
030219 obstetrics & reproductive medicine
Point mutation
Elastase
Infant
General Medicine
medicine.disease
medicine.anatomical_structure
ELANE Gene
030220 oncology & carcinogenesis
Pediatrics, Perinatology and Child Health
Immunology
Bone marrow
Leukocyte Elastase
Subjects
Details
- ISSN :
- 16155742 and 10935266
- Volume :
- 17
- Database :
- OpenAIRE
- Journal :
- Pediatric and Developmental Pathology
- Accession number :
- edsair.doi.dedup.....935d714256ee1ad1485bcc1a8735024e