Monoclonality and Cytogenetic Abnormalities in Hyaline-Vascular Castleman's Disease
Kung-Chao Chang, I-Chuang Liao, Chen Chang, Hsiang-Lin Song, Dan Jones. National Cheng Kung University and Hospital, Tainan, Taiwan; University of Texas M.D. Anderson Cancer Center, Houston, TX
Background: Castleman disease is a group of heterogeneous diseases with different etiologies that share common histological reaction patterns. Hyaline-vascular Castleman disease (HVCD), the most common form, is characterized clinically by a solitary, slow-growing mass typically in mediastinum or retroperitoneum, and lack of constitutional symptoms. HVCD is traditionally accepted as a hamartomatous or reactive process. However, the rare reports of recurrence and bony destruction bring question to this concept.
Design: In this study, we used HUMARA (human androgen-receptor) gene analysis to investigate the clonal status in 14 cases of HVCD and 2 cases of plasma-cell type CD. Conventional cytogenetic analysis was performed in three (one of the above and two additional) HVCD cases to test any cytogenetic abnormalities. We also studied rearrangement of immunoglobulin genes to detect possible monoclonal lymphoid cells. Nine patients were followed up (range: 0.4 to 120.5 months; mean: 40.0 months).
Results: There were total 16 female cases of CD with a mean age of 38.2 years (ranging from 5 to 65 years), and HVCD in 14 and plasma-cell type in 2 cases. HUMARA gene analysis yielded informative results in 9 but non-informative in 7 cases. Among the 9 informative cases, 6 cases (67%, HVCD in 5 [N1-N2, N7, N9, and M3] and plasma-cell type in 1 [N8]) were monoclonal.
Two of three cases showed cytogenetic abnormalities with t(1;22)(p22;q23) and t(7;8)(qter;q12) in each. All 16 cases showed polyclonal patterns for rearrangement of Ig genes, including heavy and kappa and lambda light chains. The follow-up data showed persistent disease in two of nine cases, although no recurrent cases were noted. However, we have reviewed the literature and found 13 cases carrying the behavior of bony destruction and recurrence.
Conclusions: Our data showed most of HVCD cases are monoclonal with abnormal cytogenetics in some. Along with the occasional case report of recurrence, it may suggest that HVCD (without stromal overgrowth), at least in part, may be neoplastic in nature. Our study has shed light on the pathogenesis of HVCD and further studies with more cases are warranted.
Monday, March 19, 2012 1:00 PM
Poster Session II # 228, Monday Afternoon