Aggressive extramedullary acute myeloid leukaemia masquerading as dental infection with rare t(10:11) translocation and subsequent relapse as leukaemia cutis.

Abstract

Introduction: Extramedullary leukaemia, also known as myeloid sarcoma, is a rare manifestation of acute myeloid leukaemia (AML) that typically occurs in conjunction with bone marrow involvement. It is characterized by infiltration of leukemic cells into extramedullary tissues, including the skin, soft tissues, and lymph nodes, where it may present as mass-like or nodular lesions. When associated with high-risk cytogenetic abnormalities, extramedullary disease may exhibit particularly aggressive behaviour and pose substantial diagnostic challenges, especially when it precedes or masks systemic manifestations of AML.

Case description: A 36-year-old postpartum woman, 6 months following delivery, presented with a 3-month history of progressively enlarging nodules involving the left side of the face. These lesions were initially attributed to a dental infection following extraction of two teeth; however, they persisted and progressed despite appropriate dental treatment. In the weeks preceding this presentation, the patient had developed worsening fatigue, dyspnoea, jaundice, and easy bruising. On examination, there were several firms, non-tender nodules over the left cheek, prominent left cervical lymphadenopathy, scleral icterus, and diffuse ecchymoses. Laboratory results showed pancytopenia with severe anaemia, thrombocytopenia, and neutropenia, elevated liver enzymes suggestive of systemic involvement. The initial differential diagnosis included chronic infection, granulomatous disease, and hematologic malignancy. Following this, imaging showed multifocal facial soft-tissue masses and extensive cervical lymphadenopathy. Core biopsy of a cheek lesion showed diffuse infiltration by atypical myeloid cells consistent with extramedullary AML with monocytic differentiation, which was confirmed on bone marrow biopsy. Cytogenetic analysis revealed a t(10;11)(p13;q13.3), an additional der (20) t(1;20)(q21;q13.3), and a marker chromosome. Induction chemotherapy with cytarabine and idarubicin was initiated. Following consolidation therapy, the patient developed new cutaneous nodules and plaques several weeks later, and skin biopsy confirmed leukaemia cutis, indicating persistent extramedullary disease.

Discussion: This case illustrates a rare and aggressive presentation of extramedullary AML with monocytic differentiation and high-risk cytogenetics in a young postpartum patient, initially mimicking a localized odontogenic infection. The delayed diagnosis underscores the complexity of recognizing extramedullary leukaemia, particularly when early hematologic abnormalities are subtle or absent. The presence of a t(10;11) translocation and the subsequent development of leukaemia cutis following induction therapy highlight the aggressive biologic behaviour of this disease and reinforce the importance of heightened clinical suspicion, prompt tissue diagnosis, and vigilant surveillance for extramedullary relapse, which may require intensified therapeutic approaches.