Translocation (11;14)(q13;q32) and preferential involvement of chromosomes 1, 2, 9, 13, and 17 in mantle cell lymphoma.

[monosomy 21]

We have studied 13 cases of histologically confirmed mantle cell lymphomas (MCL ) combining cytological-immunological features with conventional cytogenetics and in situ hybridization (ISH ) techniques . Peripheral blood smears and lymph node biopsies expressed the typical mantle zone pattern with alpha B-cell phenotype . Most of the cases (11 of 13 ) had lymphomatous cells in the peripheral blood . Chromosome analysis was carried out on lymphoid cells from peripheral blood and /or lymph node biopsies . Phytohemagglutinin (PHA ) and phorbol 12 -myristate 13 acetate (TPA ) were used as mitogens . Biotin-labeled libraries of whole chromosomes implicated in complex karyotypes were used to improve their interpretation . Clonal chromosome abnormalities were found in 10 of 13 patients (77 %); 7 of these had a complex abnormality . The most frequent recurrent structural abnormalities were : t (11 ;14 )(q 13 ;q 32 ), involvement of chromosome 1 (der [1 ], del [1 ], dup [1 ]), chromosome 2 (del [2 ], der [2 ]), chromosome 9 (der [9 ], -9 ), chromosome 13 (add [13 ], t [13 q ]), and chromosome 17 (add [17 ], der [17 ], t [17 q ]). The most frequent numerical abnormalities were monosomy 21 and loss of the Y chromosome .

Diseases
Validation

Diseases presenting "complex abnormality" symptom

monosomy 21

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