Kaustav Ghosh

To the editor,Hemoglobin (Hb) variants are among the most common monogenic disorders worldwide, with more than 1,900 structural variants identified to date. Although most are clinically benign, som...

Anterior chamber leukemic infiltration presenting as pseudohypopyon is an exceptionally rare manifestation of relapsed acute lymphoblastic leukemia (ALL) and may masquerade as inflammatory uveitis, delaying recognition of systemic recurrence. We report a 5-year-old boy with high-risk IKZF1-plus B-cell precursor ALL (BCP-ALL) who achieved morphological remission after induction chemotherapy and subsequently became measurable residual disease (MRD)-negative following consolidation. During the tenth cycle of maintenance therapy, he developed painless bilateral ocular redness with pseudohypopyon in the absence of inflammatory signs. Bone marrow examination showed persistent morphological remission (3% blasts); however, multiparameter flow cytometry detected MRD positivity (0.10%), indicating molecular relapse. Cerebrospinal fluid (CSF) examination demonstrated lymphoblasts, confirming concurrent central nervous system (CNS) relapse, while brain and orbital magnetic resonance imaging were unremarkable. Based on the characteristic ocular findings and confirmed systemic relapse, anterior chamber paracentesis was deferred because it would not have altered management. The patient received salvage therapy with mini-hyperfractionated cyclophosphamide, vincristine, and dexamethasone combined with inotuzumab ozogamicin and protocol-directed CNS therapy as bridging treatment to allogeneic hematopoietic stem cell transplantation. This case highlights bilateral pseudohypopyon as a rare presenting feature of molecular relapse in high-risk IKZF1-plus BCP-ALL. It emphasizes that integration of ophthalmic examination with MRD assessment and CSF evaluation can facilitate early diagnosis despite persistent morphological remission, enabling timely multidisciplinary management of leukemic ocular masquerade syndrome.

Introduction: Myelodysplastic syndrome with fibrosis (MDS-F) is a rare and biologically aggressive subtype of myelodysplastic syndrome associated with severe cytopenias, poor prognosis, and increased risk of progression to acute myeloid leukemia. The coexistence of TP53 mutation further confers adverse disease biology, therapeutic resistance, and inferior survival outcomes. Occurrence of TP53-mutated MDS-F in young adults is exceptionally uncommon and poses significant diagnostic and therapeutic challenges. Case presentation: A 22-year-old female presented with transfusion-dependent pancytopenia and progressive pallor. Bone marrow aspiration resulted in a dry tap, while trephine biopsy revealed markedly hypercellular marrow with dysplasia involving erythroid precursors and megakaryocytes and grade 2 reticulin fibrosis. Immunophenotyping identified approximately 5% CD117-positive myeloid precursors. Cytogenetic analysis showed a normal female karyotype, whereas next-generation sequencing detected a TP53 exon 5 mutation, c.536A>G (p.His179Arg), with variant allele frequency of 22.6%. The patient was diagnosed as MDS-F, and classified as moderate high risk according to the IPSS-M. She received azacitidine therapy and achieved complete remission with bilineage recovery after four cycles, which subsequently deepened to complete remission after six cycles, following which she was planned for allogeneic hematopoietic stem cell transplantation. Conclusion: This case highlights the rare occurrence of TP53-mutated MDS-F in a very young adult and demonstrates that azacitidine can induce meaningful hematologic remission despite adverse molecular and morphologic features. Early molecular profiling and timely referral for allogeneic transplantation remain essential in such high-risk disease.