Atypical Presentation of Chronic Lymphocytic Leukemia With Pelvic Inflammatory Disease in a Mexican Patient
Introduction/Background/Significance: Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in Western countries, typically affecting older adults and characterized by clonal proliferation of mature B-cells with distinct immunophenotypic markers (CD5, CD19, CD20, CD23, CD200) (2,6). In Mexico, however, its prevalence remains low compared to acute leukemias, with chronic leukemias comprising less than 10% of cases (1). Early diagnosis and genetic profiling are critical for optimal management, particularly with the increasing availability of targeted therapies.
Materials and Methods/Case Presentation/Objective: A 62-year-old female presented with fever, lower abdominal pain, and leucorrhea. Gynecological evaluation confirmed pelvic inflammatory disease (PID) with intrauterine collection. Laboratory tests revealed severe anemia (Hb 7.2 g/dL), marked lymphocytosis (152.6 ×103/μL), and peripheral smear findings consistent with CLL, including Gumprecht shadows and small mature lymphocytes. Flow cytometry confirmed CLL (CD5+, CD19+, CD20+, CD200+). Abdominopelvic CT revealed hepatosplenomegaly and multiple lymphadenopathies. Next-generation sequencing (NGS) detected heterozygous ATM and NOTCH mutations and deletion of 13q14, with non-mutated IGHV—an indicator of poor prognosis (4,5). Infectious screening was negative. The patient was treated with triple antibiotic therapy and subsequently included in a BTK inhibitor-based treatment protocol.
Results/Description/Main Outcome Measures: While up to 80% of CLL cases are diagnosed incidentally and remain asymptomatic, treatment is required in symptomatic patients or those with disease progression, as defined by the iwCLL guidelines (3,7). This patient met criteria for treatment due to symptomatic anemia and significant splenomegaly, corresponding to Rai stage C and Binet stage IV (3). Deletion of 13q14 is the most frequent cytogenetic abnormality in CLL and is associated with favorable outcomes when isolated (4). However, the presence of unmutated IGHV confers a more aggressive clinical course (5). NGS enables comprehensive molecular characterization and supports the identification of therapeutic targets, even in the absence of high-risk cytogenetic markers like del(17p) or TP53 mutations (8,9). Current treatment strategies prioritize targeted agents, such as BTK inhibitors or BCL2 inhibitors, particularly in high-risk or symptomatic patients (11). CLL-IPI remains a useful prognostic tool even in the era of targeted therapies (10).
Conclusions: CLL may present atypically and coexist with other pathologies, potentially delaying diagnosis. This case highlights the importance of comprehensive clinical, immunophenotypic, and molecular evaluation in guiding appropriate treatment. NGS plays a key role in identifying prognostic markers and informing personalized therapy. Increased awareness and access to molecular diagnostics are essential for improving CLL outcomes in regions where its prevalence is underestimated.
References
1. Santoyo-sánchez a, et al. gac med mex. 2016;152:208–12. 2.Eichhorst b, et al. ann oncol. 2021;32(1):23–33. 3.Hallek m, et al. Blood. 2018;131(25):2745–60. 4.Khalid k, et al. cureus. 2021 aug 2. 5. Mikhaleva m, et al. Blood. 2020;136(suppl 1):19. 6. Hallek m, al-sawaf o. am j hematol. 2021;96(12):1679–705. 7. Shadman m. jama. 2023;329(11):918. 8.Malcikova j, et al. leukemia. 2018;32(5):1070–80. 9.Rodríguez-vicente ae, et al. oncotarget. 2017;8(41):71234–48. 10. Hallek m. am j hematol. 2025;100(3):450–80. 11. Medina á, et al. med clin (barc). 2025 jan.
