Advances in the diagnostic approach to childhood lymphoblastic malignant neoplasms

Department of Pathology, University of Utah Health Sciences Center and ARUP Laboratories, Salt Lake City 84132, USA.
American Journal of Clinical Pathology (Impact Factor: 2.51). 01/2005; 122 Suppl:S3-18. DOI: 10.1309/MQP7PTW7RQPJLDL4
Source: PubMed


Acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LBL) not only are the most common cancer in children, but also among the most curable. Contemporary therapy has achieved highly successful survival rates by risk stratification into low- and high-risk treatment groups. This has permitted tailoring therapy intensity to produce higher remission rates, even in unfavorable prognostic groups. Accurate diagnosis, subclassification, and identification of relevant prognostic factors for lymphoblastic malignant neoplasms, using a multiparametric approach including immunophenotyping, cytogenetic and molecular analysis, and more traditional pathologic criteria, provides information that allows each patient to receive appropriate treatment.

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    ABSTRACT: Cytogenetic analyses of lymphomas commonly reveal nonrandom chromosomal abnormalities, but there are relatively few reports in childhood lymphoblastic lymphoma (LL). We retrospectively reviewed G-banded karyotypic analyses performed at Arkansas Children's Hospital between 1990 and 2004. Six children (2 to 20 years old) had LL that presented as mediastinal or cervical masses and had a T-cell immunophenotype and clonal abnormalities. The cytogenetic findings in these 6 patients were as follows: 46,XX,-7,inv(9)(p11q12),der (12)t(7;12)(q11.2;p13),t(16;18)(p13.1;q21),+22 in patient 1; 47,XX,+9,del(9)(q11q22)x2 in patient 2; 72-119, XY,+X,+1,+1, inv(2) (p11q13),-3,+5,+6,+7,+10,-12,-16, -21,-21,-22,+mar in patient 3; 48,XY,+5,+20,t(7;9) (q32;q34) in patient 4; 47 approximately 48,XX,der(10)t(10;14)(q23; q11.2),+12, del(12)(p12)x2, -14,del(16)(q22q22),+?add (19)(p13.3) in patient 5; and 48 approximately 49,XY,+7,+8,t(11;19) (q23;p?13.3),+der(19)t(11;19)[cp20] in patient 6. Eleven chromosome breakpoints in 6 of our patients (7q11, 12p13, 16p13, 18q21, 9q11, 2p11, 2q13, 7q32, and 7q23) have been reported in other patients with acute lymphoblastic leukemia or LL and involved regions containing TEL, ABL, E2A, MLL, and T-cell receptor-alpha genes. A review of the cytogenetic findings of these and other cases of LL reveals that clonal aberrations are common and most frequently involve T-cell receptor gene regions. The aberrations show some features similar to those of acute lymphoblastic leukemia and are not unique to LL, thus furnishing additional evidence of the equivalence of these two diseases. The cytogenetic features of LL may be helpful in the diagnosis of pediatric lymphomas and undifferentiated neoplasms.
    Pediatric and Developmental Pathology 10/2005; 8(5):550-6. DOI:10.1007/s10024-005-0050-7 · 0.87 Impact Factor
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    ABSTRACT: Among pediatric non-Hodgkin lymphomas, one of the most frequent types is lymphoblastic lymphoma (LBL). Specific chromosome abnormalities are associated with prognosis in childhood acute lymphoblastic leukemia, but have not been evaluated for prognostic value in pediatric LBL. For the Children's Cancer Group protocol CCG-E-08 Etiologic Study of Non-Hodgkin Lymphoma in Childhood, 13 patients were enrolled with cytogenetic analysis of LBL and on treatment protocol CCG-502. Pathology material and karyotypes at initial diagnosis were given central review. The patients were aged 6-13 years (median 9 years), with a male-to-female ratio of 12:1. All patients had advanced disease. Disease relapsed in six patients (event-free survival 54% +/- 14%, median 10.8 years). Chromosome abnormalities were identified in 11 (85%), and translocations at 14q11.2 likely involving the T-cell receptor alpha/delta locus (TCR A/D) occurred in 4 (31%). For patients with relapse, four had translocations t(1;14)(p32;q11.2), t(8;14)(q24.1;q11.2), t(11;14)(p13;q11.2), or t(9;17)(q34;q23), involving breakpoints in the regions of TAL1, MYC, LMO2, and NOTCH1, respectively. Pediatric advanced LBLs have a high frequency of chromosome abnormalities; in this limited study, these often involved translocations at 14q11.2, the site of TCR A/D. Translocations possibly involving TAL1, MYC, LMO2, or NOTCH1 may have contributed to poor outcome. Further studies are warranted in larger cohorts of children and adolescents with LBL to evaluate the prognostic significance.
    Cancer Genetics and Cytogenetics 02/2007; 172(1):1-11. DOI:10.1016/j.cancergencyto.2006.07.011 · 1.93 Impact Factor
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