Chromosome 17p deletion in aplastic anaemia with paroxysmal nocturnal haemoglobinuria clone: a diagnostic challenge.

Authors

Kavya Ronanki, Lumen Agarkar Prattipati, Prisla Maria Dalton, Nabanita Mayur, Uttam Kumar Nath

Published in

Journal of hematopathology. Volume 19. Issue 1. Sep 13, 2026. Epub Sep 13, 2026.

Abstract

Aplastic anaemia (AA) and paroxysmal nocturnal haemoglobinuria (PNH) are closely related acquired bone marrow failure syndromes sharing an immune-mediated pathogenesis. Cytogenetic abnormalities are uncommon in AA-PNH overlap syndrome, and their significance remains uncertain. We report a case of non-severe AA-PNH overlap syndrome harbouring a low-level chromosome 17p deletion in the absence of morphologic or molecular evidence of myeloid neoplasm.
A 56-year-old female presented with recurrent aphthous ulcers and pancytopenia. Complete blood count revealed haemoglobin of 6.3 g/dL, total leukocyte count of 2800/µL with an absolute neutrophil count of 982/µL, and platelet count of 10,000/µL. Bone marrow aspirate showed adequate erythropoiesis with normoblastic to megaloblastic maturation and active myelopoiesis. Bone marrow biopsy revealed a markedly hypocellular marrow (10% cellularity) with focal erythroid prominence. No dysplasia, excess blasts, ring sideroblasts, and abnormal topography were identified. Flow cytometric PNH evaluation demonstrated a large type III clone involving 78% of neutrophils and 64% of monocytes. FISH analysis using TP53/CEP17 probes revealed chromosome 17p deletion in 12 of 200 nuclei (6%). Next-generation sequencing did not identify TP53 or other myeloid-associated mutations. The patient was treated with horse anti-thymocyte globulin, cyclosporine, romiplostim, erythropoietin, and irradiated blood products. She achieved transfusion independence and remains clinically stable on follow-up of 27 months.
Low-level chromosome 17p deletion may occur in AA-PNH overlap syndrome without morphologic or molecular evidence of myeloid neoplasm. Careful clinicopathologic correlation and long-term surveillance are essential before attributing such abnormalities to clonal evolution.

PMID:
42732482
Bibliographic data and abstract were imported from PubMed on 14 Sep 2026.

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