Richter syndrome first manifesting as cutaneous B-cell lymphoma clonally distinct from primary B-cell chronic lymphocytic leukaemia

Abstract

Richter syndrome (RS) is a transformation to high-grade non-Hodgkin lymphoma in patients with chronic lymphocytic leukaemia (CLL). RS may develop in lymph nodes or rarely extranodally. Skin localization of RS has been described in only a few cases. We present a 77-year-old woman who developed isolated diffuse large B-cell lymphoma (LBCL) in the skin of the nose without any other symptoms of RS. The LBCL in the skin was clonally distinct from the original bone marrow CLL cells. Moreover, LBCL cells were positive for LMP-1 segment of Epstein-Barr virus and overexpressed p53 protein. The patient was successfully treated with CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) and adjuvant local radiotherapy.

Cutaneous Richter syndrome: Report of 3 cases from one institution

“…Subsequently, EBV infection was confirmed in a few cases of cutaneous RS. 12,14 Moreover, it has been shown that EBERpositive patients often have shorter survival as compared with patients lacking EBV infection. 25 Recently, Thornton et al 26 14,26 Several genetic abnormalities have been documented in subsets of patients with RS, including trisomy 12; deletions or translocations involving chromosomes 11q, 13q, 6q, and 14q; mutations in p53, p16, and p21 genes; and microsatellite instability.…”

“…23 Cutaneous RS has only been described in a few cases in the literature. 2,[6][7][8][9][10][11][12][13][14] In this study, we describe a series of 3 cutaneous RS cases from a single institution with a long period of follow-up (up to 8 years). All 3 patients had histories of CLL.…”

“…5 Skin involvement of RS is rare with only a handful of cases reported in the literature. 2,[6][7][8][9][10][11][12][13][14] RS presenting as a skin lesion with the initial diagnosis made by skin biopsy specimen is quite rare. Histopathological examination of the affected organ shows an atypical lymphoid infiltrate composed of large cells with enlarged nuclei, prominent nucleoli, and abundant basophilic cytoplasm.…”

Cutaneous Richter’s Syndrome, Prognosis, and Clinical, Histological and Immunohistological Patterns: Report of Four Cases and Review of the Literature

“…It has been described in isolated case reports in which the mean age at onset was 71 years (40–82 years) [3,13,14,20,21,22,23]. The patients had either a rapidly growing tumor or multiple erythematoviolaceous nodules at various sites (extremities, nose, chest and limbs).…”

“…Recent data suggest that CLL cells with a higher activation- induced cytidine deaminase mRNA expression and an increasing aberrant somatic hypermutation can cause a more aggressive disease [9]. CLL and RS cells arise from the same clone in approximately 70–80% of the cases, but some authors have reported a different clone in RS associated with a more indolent disease [10,11,12,13,14]. …”