Diagnosis of Richter transformation in chronic lymphocytic leukemia: histology tips the scales

• Published in: Annals of hematology Vol. 97; no. 10; pp. 1859 - 1868
• Main Authors: Federmann, Birgit, Mueller, Martin R., Steinhilber, Julia, Horger, Marius S., Fend, Falko
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2018; Springer Nature B.V
• Subjects: Adult; Aged; Aged, 80 and over; Biopsy; Cell Cycle; Disease Progression; Female; Hematology; Humans; Leukemia; Leukemia, Lymphocytic, Chronic, B-Cell - pathology; Lymph Nodes - pathology; Lymphoma; Lymphoma, Large B-Cell, Diffuse - diagnosis; Lymphoma, Large B-Cell, Diffuse - genetics; Lymphoma, Large B-Cell, Diffuse - pathology; Lymphoma, Non-Hodgkin - diagnosis; Lymphoma, Non-Hodgkin - genetics; Lymphoma, Non-Hodgkin - pathology; Male; Medical diagnosis; Medicine; Medicine & Public Health; Middle Aged; Mutation; Oncology; Original Article; Positron Emission Tomography Computed Tomography; Retrospective Studies; Risk Factors; Signal Transduction; Tomography, X-Ray Computed; CT; CLL; Transformation; Richter syndrome; Biopsy
• ISSN: 0939-5555; 1432-0584
• DOI: 10.1007/s00277-018-3390-x

Development of diffuse large B-cell lymphoma in chronic lymphocytic leukemia, so-called Richter transformation (RT), occurs in 2–5% of patients and is associated with poor outcome. The clinical features of RT are fairly non-specific and unable to discriminate transformation from other mimics. In case of clinically suspected RT, a CT/MRT is recommended, and FDG-PET/CT may help to select the site of biopsy. Radiological features suggestive of RT have been defined, but there are only limited data about their predictive value, and histological confirmation is still considered the gold standard for RT diagnosis. We retrospectively analyzed 34 patients with clinically suspected RT and available radiological and histological data. A histopathological diagnosis of RT with concordant clinical and radiological findings was obtained in 13 patients. In 18 patients, CT did not show features of transformation, concordant with lack of RT in the biopsy. Of interest, a distinct lymphoma other than DLBCL was identified in two of these cases. A false-positive radiological diagnosis of RT was rendered in two patients, including a case of Herpes simplex virus lymphadenitis. In conclusion, our findings confirm the central role of tissue biopsy in the diagnostic work up in case of clinically suspected RT.