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del(6q) abnormalities in lymphoid malignancies

Written1998-12Christophe Brigaudeau, Chrystele Bilhou-Nabera
Laboratoire d'Hématologie, Hôpital du Haut-Lévêque, CHU de Bordeaux, Ave de Magellan, 33 604 Pessac, France

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1148
Note deletion of the long arm of chromosome 6 (del(6q)) is more frequently described in lymphoid proliferations than in other hematological malignancies; del(6q) is observed in acute lymphoblastic leukemia (ALL), in chronic lymphocytic leukemia (CLL), in prolymphocytic leukemia and in non-Hodgkin lymphomas (NHL) (15% cases, sometimes associated with t(14;18)(q32;q21)); these deletions are mainly reported to be terminal, but also interstitial.
  del(6q)  Partial karyotypes with 6q deletions of various sizes (6 left – Courtesy Adriana Zamecnikova; 2 center right: Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap Cytogenetics at theWaisman Center; right: R- banding – Jean Loup Huret. Hybridization with the XL 6q21/6q23 locus-specific probe (Metasystems, Germany) showing the green labeled probe hybridizing to 6q21 and the orange labeled probe hybridizing to the MYB gene region at 6q23 on normal metaphase (A) and on metaphase with 6q deletion distal to 6q23 (B). Two green and one orange signal indicate a deletion in 6q23 (MYB) (C) – Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease childhood B-cell acute lymphoblastic leukemia (B-ALL)
Phenotype / cell stem origin lack of specificity for a particular immunophenotype
Epidemiology found in 5-15% of patients after conventional cytogenetic analysis, in 30% after FISH analysis, in 5 to 25% of cases in loss of heterozygosity studies.
Prognosis not significantly different from patients lacking a 6q rearrangement

Disease childhood T-cell acute lymphoblastic leukemia (T-ALL)
Epidemiology del(6q) is one of the most frequent cytogenetic aberration occurring in 10-20% of cases and often associated with 14q11 or del(9p) abnormalities.
Prognosis outcome similar to cases with normal diploid karyotypes

Disease adult acute lymphoblastic leukemia
Phenotype / cell stem origin T-cell phenotype found in 50% of cases (ALL)
Epidemiology del(6q) in adult-ALL occur with a lower frequency (5%) than in children and is reported predominantly in young adult (15 to 40 years aged).
Prognosis patients with a 6q change tented to have longer event free survival (EFS) (median: 11 months; 3 years EFS: 47%) than did patients without 6q changes (median EFS: 7 month; 3 years EFS: 20%).

Disease B-cell small lymphocytic lymphomA
Epidemiology del(6)(q21q23) is the most common recurrent cytogenetic abnormality in this disease
Clinics in cases with del(6q), a morphological appearance of peripheral blood large prolymphocytes, a mature B-cell phenotype and a typical clinical course of other well-differentiated lymphocytic neoplams are described

Disease atypical chronic lymphocytic leukemia
Prognosis complex karyotypes with +12, del(13)(q14), del(11q), del(6)(q21q23) and possible 4q or 10q anomalies are associated with a poor prognosis.

Disease multiple myeloma
Phenotype / cell stem origin multiple myeloma (MM) is a malignant plasma cell proliferation of mature differentiated B-cell.
Epidemiology del (6q) in multiple myeloma represent 15% of cases of MM
Prognosis del(6q) are more frequent in the hypodiploid group of multiple myeloma, bearing a worse prognosis (med survival of 1.5 yr).


Cytogenetics Morphological the frequency of the deletions is difficult to estimate by conventional cytogenetic analysis because small interstitial deletions are beyond the sensitivity of the technique; furthermore, many studies have reported conflicting data on the putative region of overlap and the number of region involved; the break occurs predominantly in 6q21, but 6q15 is also often described; overall, del(6q) cases encompassed the 6q21 band. in acute lymphoblastic leukemia (ALL), del(6q) is the sole anomaly in about 30% of cases, or associated with other structural abnormalities such as del(12p) (early pre-B ALL), del(9p) (B and T-cell immunophenotype), specific aberrations, such as t(4;11), t(1;19), t(9;22), t(12;21) or with random chromosomal changes.

Genes involved and Proteins

Note 6q21 band loss suggests the presence of a recessive tumour suppressor gene whose absence might contribute to malignant transformation and development of both T and precursor B-ALLs; the lack of specificity for a particular immunophenotype may imply that the gene or genes affected by 6q abnormalities are broadly active in the multistep process of lymphoid leukemogenesis.

Putative tumour suppressor gene(s) on chromosome arm 6q remains to be identified; to demonstrate this loss of heterozygosity of informative markers (LOH) was analysed using PCR amplification of polymorphic microsatellite sequences; using polymorphic markers located from the 6q14-15 to telomere, LOH was detected in 5 to 25% of childhood ALL cases.

Regarding LOH results, two distinct regions were identified: - first region flanked by D6S283 and D6S302 loci at 6q21-22 - second region flanked by D6S275 and D6S283 loci at 6q21

Using LOH analysis on several cases, the authors demonstrated an identical 6q21-22 structure at diagnosis and at relapse, suggesting that 6q deletion may be an initial event in leukemogenesis and may occur less frequently during progression of the disease.


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This paper should be referenced as such :
Brigaudeau, C ; Bilhou-Nabera, C
del(6q) abnormalities in lymphoid malignancies
Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):33-35.
Free journal version : [ pdf ]   [ DOI ]
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Translocations implicated (Data extracted from papers in the Atlas)

 del(6q) abnormalities in lymphoid malignancies

External links

Mitelman databasedel(6q)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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