Derivative (14)t(11;14)(q13;q32)t(11;14)(p11.2;p11.2): a novel unbalanced variant of the t(11;14)(q13;q32) translocation in mantle cell lymphoma.

We report the case of a 62-year-old man who presented with splenomegaly, leukocytosis, anemia, and thrombocytopenia. Examination of the peripheral blood, bone marrow, and spleen revealed involvement by mantle cell lymphoma, with some blastoid features and an atypical phenotype. Spleen and bone marrow classical chromosome analysis followed by fluorescence in situ hybridization revealed a novel and unusual unbalanced variant of the t(11;14)(q13;q32) translocation, resulting in a complex derivative chromosome harboring the IGH/CCND1 fusion gene.

A case of myelodysplastic syndrome with acquired monosomy 7 in a child with a constitutional t(1;19) and a mosaicism for trisomy 21.

A 3-year-old patient presented with anemia, thrombocytopenia, and blasts in the peripheral blood. A bone marrow aspirate revealed a myelodysplastic syndrome (MDS). A mosaic abnormal female karyotype 46,XX, t(1;19)(q42; p13.

Utility of routine classical cytogenetic studies in the evaluation of suspected lymphomas: results of 279 consecutive lymph node/extranodal tissue biopsies.

Classical cytogenetic studies have a critical role in the diagnosis of acute leukemias; however, they are much less widely used in lymphoma diagnosis. To evaluate their utility in this latter setting, G-banded karyotyping was performed on 279 consecutive lymph node or tissue biopsy specimens with suspected lymphoma. Complete cytogenetic studies were successfully obtained in 177 cases (63.

T(14;18)(q32;q21) involving MALT1 and IGH genes in an extranodal diffuse large B-cell lymphoma.

Two translocations involving the MALT1 gene have been described in extranodal marginal zone B-cell lymphomas of MALT type. A t(11;18)(q21;q21) involving API2 and MALT1 occurs in a subset of MALT lymphomas but with only rare exception is absent in diffuse large B-cell lymphomas (DLBCL), even at MALT sites. More recently, a t(14;18)(q32;q21) involving IGH and MALT1 has been described in nongastric extranodal MALT lymphomas.

Nodal marginal zone B-cell lymphoma with a novel t(X;5)(q28;q22): conventional and molecular cytogenetic analysis.

Cytogenetic studies provide important information for the diagnosis and classification of malignant lymphomas that in some cases also has prognostic significance. Furthermore, the investigation of isolated novel cytogenetic findings in malignant lymphoma has led to the discovery of many important oncogenes and tumor suppressor genes. For this reason, a case of nodal marginal zone B-cell lymphoma in a 72-year-old woman is described in which analysis by conventional and molecular cytogenetic techniques demonstrated the presence of a t(X:5)(q28;q22) as the sole chromosomal abnormality.

New cytogenetic variant, insertion (15;17)(q22;q12q21), in an adolescent with acute promyelocytic leukemia.

We present the case of a 15-year-old female with acute promyelocytic leukemia and a new variant chromosome rearrangement identified as ins(15;17)(q22;q12q21) by conventional cytogenetic analysis. This finding was confirmed by fluorescence in situ hybridization using the PML-RARA DNA probe and whole chromosome paints 15 and 17. A typical PML-RARA fusion transcript consistent with a breakpoint in intron 3 of the PML gene and intron 2 of the RARA gene was identified by reverse transcription polymerase chain reaction.