Note This review does not include a case of t(2;12)(p12;p13) found in myeloid malignancy (Lai et al., 1995), a case of acute lymphoblastic leukemia with a t(12;14)(p13;q32) and IgH/ETV6 involvement (Lu et al., 2002); five cases of t(12;22)(p13;q11), not herein included either, have also been described in lymphoid malignancies, but with an unknown CCND2 status (see Mitelman database). Finally, there are a number of chronic myeloid leukemia aberrant translocations with t(12;22), which again represent other diseases.
Phenotype / cell stem origin The cases of mantle cell lymphomas with the above translocations were typical mantle cell cases, with CD5+, CD20+, CD10-, CD23- expression, except for the lack of CCND1 expression.
Clinics The patients are in stage IV of the disease, with a nodular, or nodular/diffuse pattern. There was 3 male and 2 female patients, aged 33, 52, 65, 70, and ? years.
Prognosis Data is missing in most cases; the two patients with data on prognosis died: the patient with Richter disease, and a MCL case, who died 64 months after diagnosis.
Cytogenetics Morphological There was two cases of t(2;12), one case of cryptic t(12;14), one case of t(12;22), and one case with no metaphase.
Additional anomalies +3 was found in two cases, +21 in one case, a complex karyotype in one case, and +12 and a t(14;19)(q32;q13) in the CLL/Richter case.
Protein CCND2 promotes cell cycle progression at the G1/S start transition. Interacts with CDK4 and CDK6. CCND2 is activated through B-cell antigen receptor-induced, and CD19-induced signal transduction pathways, including the RAS/RAF/MAPK pathway, the PLC gamma pathway, and the IKK/NF-KB pathway. CCND2 is critical in B-cell development (review in Chiles, 2004).
Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoïesis and a high incidence of P53 mutations.
The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia.
Cyclin D2 promoter disrupted by t(12;22)(p13;q11.2) during transformation of chronic lymphocytic leukaemia to non-Hodgkin's lymphoma.