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Novel t(1;8)(p31.3;q21.3) NFIA-RUNX1T1 Translocation in an Infant Erythroblastic Sarcoma
- Source :
- American Journal of Clinical Pathology. 156:129-138
- Publication Year :
- 2020
- Publisher :
- Oxford University Press (OUP), 2020.
-
Abstract
- Objectives Pure erythroid leukemia (PEL) is exceptionally rare in the pediatric setting. Four pediatric PEL cases with t(1;16)(p31;q24) NFIA-CBFA2T3 were reported previously. We present a case of an infant with PEL presenting with erythroblastic sarcoma and harboring a novel t(1;8)(p31.3;q21.3) NFIA-RUNX1T1 fusion detected by RNA sequencing and conventional karyotype. Methods Bone marrow (BM) and abdominal mass biopsies from the patient were evaluated with extensive immunohistochemical, flow cytometric, cytogenetic, and molecular studies. Results The patient was a female infant who presented between 2 and 5 months of age with cytopenias and an enlarging abdominal mass. Blasts in the BM and abdominal mass expressed CD71 and CD117 with focal expression of CD43, E-cadherin, epithelial membrane antigen, and hemoglobin A. They were negative for additional myeloid, lymphoid, and nonhematolymphoid markers. These findings were most consistent with PEL and erythroblastic sarcoma. RNA sequencing revealed the novel NFIA-RUNX1T1 fusion. Conclusions Along with the previously reported PELs with NFIA-CBFA2T3 fusions, we describe a subset of PELs that occur in children, that frequently display extramedullary disease, and that harbor rearrangements of NFIA with core binding factor genes. We hypothesize that, together, these cases represent a rare but distinct clinicopathologic group of pediatric PELs with recurrent genetic abnormality.
- Subjects :
- Pathology
medicine.medical_specialty
Myeloid
Translocation, Genetic
03 medical and health sciences
RUNX1 Translocation Partner 1 Protein
0302 clinical medicine
hemic and lymphatic diseases
medicine
Myeloid sarcoma
Humans
Pure Erythroid Leukemia
Oncogene Fusion
biology
CD117
business.industry
Infant
General Medicine
medicine.disease
Abdominal mass
NFI Transcription Factors
medicine.anatomical_structure
NFIA
030220 oncology & carcinogenesis
biology.protein
Female
Leukemia, Erythroblastic, Acute
Sarcoma
Bone marrow
medicine.symptom
business
030215 immunology
Subjects
Details
- ISSN :
- 19437722 and 00029173
- Volume :
- 156
- Database :
- OpenAIRE
- Journal :
- American Journal of Clinical Pathology
- Accession number :
- edsair.doi.dedup.....b4374daa9bce89d994a0e027ac6b5152