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Unique genotypic features of infant acute lymphoblastic leukaemia at presentation and at relapse
Author(s) -
Biondi Andrea,
Rossi Vincenzo,
Francia DI Celle Paola,
Carbone Anna,
Benvestito Serena,
Busca Alessandro,
Giudici Giovanni,
Giachino Claudia,
Basso Giuseppe,
Foa Robin,
Migone Nicola
Publication year - 1992
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1992.tb04560.x
Subject(s) - presentation (obstetrics) , medicine , genotype , pediatrics , genetics , biology , surgery , gene
Summary Acute lymphoblastic leukaemia (ALL) of infants aged less than 1 year represents a group of patients with peculiar biological features, poor response to therapy and unfavourable prognosis. In order better to characterize this type of leukaemia, we have investigated the immunoglobulin (Ig) and T‐cell receptor (TCR) genes configuration of 21 infants with ALL, and compared the genotypic features with the phenotypic and karyotypic data, as well as with the clinical outcome. All cases had a pre‐B phenotype; 12 (57%) of them were pre‐pre‐B ALL (CD10‐, CD 19 +). Six of the 16 cases evaluated (38%) displayed chromosomal abnormalities: five had the typical translocation t(4;11)(q21;23). Eleven cases presented with a white blood cell count greater than 100.10 9 /1. The clinical course was unfavourable in 14 patients. The genotype of this group of ALL revealed several peculiarities. (1) Of the 21 cases, six (29%) displayed a multiple rearrangement pattern at the IgH locus. (2) In three cases (15%), the light chain genes were rearranged. (3) The TCR β and γ genes were rearranged in only one case (one case at the TCR β and one at the TCR γ locus). (4) The TCR chain was rearranged in eight cases (40%) and rarely deleted; the rearrangements observed were those most frequently observed in B cell‐precursor ALL. Two cases were evaluated both at presentation and at relapse. While the immunophenotype had remained unmodified, comparison of Ig heavy chain gene rearrangements revealed clonal variations in both cases. Taken together, these findings further underline the biological peculiarities of infant ALL compared to ALL which occurs in older children and in adults, and stress the need of differentiated and aggressive therapeutic approach for these patients.