Case Presentation: Gastrointestinal (GI) manifestation of chronic lymphocytic leukemia (CLL) is very rare. This usually occurs after acute blastic transformation of CLL to diffuse large B-cell lymphoma called Richter transformation (RT). We report the first case in literature of anal ulceration caused by CLL without RT.A 67-year-old female with a history of partially treated CLL (underwent chemotherapy in 2015 for 3 out of 6 cycles only due to intolerance) presented with worsening burning anal pain. Associated symptoms include fecal urgency, occasional bleeding per anus, unintentional 20-lb weight loss, weakness and night sweats for 6 months. Physical examination showed pallor, large sub-mandibular lymph node and hepatosplenomegaly as well as a large, non-bleeding and tender ulcer surrounding the circumference of the anus. Diagnostics showed a white count of 11.1 (80% lymphocytes), hemoglobin of 7 (for which the patient got a unit of packed red blood cells), platelet count of 111, normal coagulation studies and negative results for sexually transmitted diseases. CT scan was obtained which revealed cervical, bilateral axillary and retroperitoneal adenopathy as well as hepatosplenomegaly. Flexible sigmoidoscopy with biopsy visualized a large area of ulceration that extended from the right lateral to the left lateral anal margin anteriorly. There is also an exposed inflamed bed of granulation tissue and thickening in the anal canal. Pathology results of biopsies from the entire ulcer are consistent with CLL (positive for CD20, CD79a, PAX5, CD5(dim), BCL-2) without Richter transformation. The patient was eventually discharged home to follow-up with an oncologist for treatment with Imbruvica (ibrutinib).
Discussion: CLL is a lymphoid neoplasm in the blood characterized by a progressive build-up of functionally inept monoclonal lymphocytes. Extra-medullary involvement of the GI tract very rarely occurs with CLL and lymphocytic infiltration is postulated to depend on the tumor burden and proliferation activity. Richter’s transformation (RT) should be suspected in patients with CLL who develop rapidly progressive lymphadenopathy, extra-nodal sites of disease and systemic manifestations. In previous case reports, CLL infiltration been reported in the stomach, ileum and colorectal area. They have been described to appear as hemorrhages, erosions, ulcers and polypoid lesions. Colorectal manifestations include bleeding, abdominal pain, diarrhea or obstruction. Our case is unique because the CLL presented as an ulceration surrounding the circumference of the anus without colorectal involvement and without Richter transformation.
Conclusions: In conclusion, patients with existing CLL presenting with an anal ulcer should raise a high suspicion for CLL infiltration. This should prompt immediate direct visualization through colonoscopy/sigmoidoscopy with biopsy for accurate diagnosis. Although the condition is uncommon, appropriate treatment can provide a good clinical outcome.