Virtually all cases of mantle cell lymphoma (MCL) carry the t(11;14)(q13;q32) translocation, leading to the juxtaposition of the CCND1/CYCLIND1 gene to the immunoglobulin heavy chain (IGH) joining region, resulting in cyclin D1 mRNA and protein overexpression.1-3 The existence of “true” MCL negative for cyclin D1 has been controversial but was recently substantiated by gene expression profiling...

An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duo...

CODING SEQUENCE: Human aldolase B gene (ALDOB). The gene is a single copy and its chromosomal location is 9q21.3-q32 MENDELIAN INHERITANCE: Demonstrated in one family. The mother and the son are heterozygotes, whereas the father is a homozygote. OTHER COMMENTS: Hereditary fructose intolerance is due to a lack of aldolase B activity in liver. Although we observed no 2.3 kb homozygotes, no sign o...

Involvement of cranial nerves is rare in plasma cell leukemia (PCL). Here, we report a case of PCL presenting with unilateral abducens paralysis. Cranial magnetic resonance imaging (MRI) disclosed a mass in the sphenoid sinus. Although the patient showed an initial response to chemotherapy, he died of disease progression 5 months later. Cytogenetic analysis showed translocation of chromosomes 1...

c-Maf, a leucine zipper-containing transcription factor, is involved in the t(14;16)(q32;q23) translocation found in 5% of myelomas. A causal role for c-Maf in myeloma pathogenesis has been proposed, but data on c-Maf protein expression are lacking. We therefore studied the expression of c-Maf protein by immunohistochemical analysis in myelomas and in a wide variety of hematopoietic tissue. c-M...

The bcl-3 gene at chromosome 19q13 encodes a member of the IkB family involved in regulating the nuclear factor kB pathway. Originally identified by its involvement in the t(14:19)(q32;q13), bcl-3 expression recently has been reported in 12% of non-Hodgkin lymphomas and 41% of Hodgkin lymphomas. Because the t(14;19) is detected most commonly in chronic lymphocytic leukemia (CLL), we assessed fo...