Chromosome 17p deletion in aplastic anaemia with paroxysmal nocturnal haemoglobinuria clone: a diagnostic challenge.
Kavya Ronanki, Lumen Agarkar Prattipati, Prisla Maria Dalton et al.
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Case in brief
A 56-year-old female presented with recurrent aphthous ulcers and pancytopenia, showing severe anemia and thrombocytopenia. Bone marrow analysis revealed hypocellularity with adequate erythropoiesis and no evidence of myeloid neoplasm. Flow cytometry indicated a significant PNH clone. FISH analysis detected a low-level chromosome 17p deletion. The patient was treated with immunosuppressive therapy and achieved transfusion independence, remaining stable at 27 months follow-up.
What made this case unusual
The case highlights a low-level chromosome 17p deletion in the context of aplastic anemia-paroxysmal nocturnal hemoglobinuria overlap syndrome, without any morphological or molecular signs of myeloid neoplasm.
Diagnostic / clinical pearl
Clinicians should be aware that low-level cytogenetic abnormalities, such as chromosome 17p deletion, can occur in aplastic anemia-PNH overlap syndrome without clear evidence of clonal evolution.
Why it matters
This case underscores the importance of careful clinicopathologic correlation and long-term monitoring in patients with overlapping syndromes to avoid misinterpretation of cytogenetic findings.