Evaluation of constitutional chromosome aberrations in hematologic disorders

Cerretini, Roxana; Acevedo, Susana Haydee; Chena, Christian; Belli, Carolina; Larripa, Irene; Slavutsky, Irma

doi:10.1016/s0165-4608(01)00621-5

Cited by 16 publications

(10 citation statements)

References 35 publications

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“…Some numerical abnormalities have been found to alter the risk for specific malignancies; for example, patients with Klinefelter syndrome are at increased risk for malignant germ-cell tumors (Hasle et al, 1995), and patients with Down syndrome are at increased risk for leukemia but at decreased risk for solid tumors (Hasle et al, 2000). The risk for cancer of carriers of a constitutional structural rearrangement has been studied in series of patients with selected cancers (Benitez et al, 1987;Richard et al, 1992;Betts et al, 2001;Cerretini et al, 2002;Welborn, 2004), but the results of these studies have been inconsistent.Observations of cancer in a few carriers of constitutional structural rearrangements have contributed to the identification of cancer loci, such as retinoblastoma in patients with 13q deletions (Turleau et al, 1985) and Wilms tumor in patients with 11p deletions (Riccardi et al, 1978). Other constitutional structural rearrangements have led to the detection of genes that predispose to cancer; for example, the involvement of the NF1 gene in neurofibromatosis was found by cloning the chromosome 17 breakpoint in a reciprocal translocation carried by a patient with neurofibromatosis (Ledbetter et al, 1989).…”

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confidence: 99%

Population‐based study of cancer among carriers of a constitutional structural chromosomal rearrangement

Bache

Hasle

Tommerup

et al. 2005

Genes Chromosomes & Cancer

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We measured the occurrence of cancer in an unselected cohort of carriers of constitutional structural rearrangements in virtually complete nationwide registries for cancer and constitutional cytogenetic abnormalities. We identified 4,816 carriers of a constitutional structural rearrangement in the Danish Cytogenetic Registry and searched for cancer diagnoses by linkage to the Danish Cancer Registry. There was no overall increased risk for cancer among carriers (standardized incidence ratio [SIR], 0.96; 95% confidence interval [CI], 0.84-1.10), and no significant difference from that expected was found in balanced and unbalanced rearrangements or in any subtypes of rearrangements. We found significantly lower risks for carriers with rearrangements involving chromosome 21 (SIR, 0.50; 95% CI, 0.22-0.99) and for paternally inherited rearrangements (SIR, 0.30; 95% CI, 0.06-0.88). Risk estimates for the observed type-specific cancers showed an increased risk for non-Hodgkin lymphoma (SIR, 2.11; 95% CI, 1.09-3.69). However, subgroup analyses were not guided by study hypotheses, and our statistical evaluation of the data should be looked upon as exploratory. In addition, we found 12 constitutional structural rearrangements with a breakpoint potentially associated with a cancer-related gene. Potential new loci associated with type-specific cancers were suggested by the findings of families with more than one affected carrier and by the involvement of the same cytogenetic bands in unrelated carriers. Molecular mapping of these breakpoints might provide new insight into cancer predisposition.

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confidence: 99%

Population‐based study of cancer among carriers of a constitutional structural chromosomal rearrangement

Bache

Hasle

Tommerup

et al. 2005

Genes Chromosomes & Cancer

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“…A careful review of literature and Mitelman database revealed that concomitant inv(9) and t(9;22) variations occurred sporadically in 8 patients [2,3,[12][13][14][15][16][17], which included 4 CML patients, 3 ALL patients, and 1 acute basophilic leukemia patient (Table 1) [7][8][9][10][11][12][13]. In this study,…”

Section: Discussionmentioning

confidence: 62%

“…Keung et al [1] have reported constitutional pericentric inversion in chromosome 9 at a frequency of 0.8-2% in normal population and at a similar frequency in AL patients. Other studies reported little difference in the incidences of constitutional chromosome aberration between patients with hematologic malignancies and the general population; however, this may either be due to the low incidence of inv(9) [6][7][8] or the exclusion of inv(9) [9]. Although the association between inv(9) variation and CML is still a controversial topic, constitutional pericentric inv(9) may be important for predicting impaired engraftment potential of hematopoietic stem cells harboring inv(9) [10,11].…”

Section: Discussionmentioning

confidence: 90%

Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia

et al. 2010

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218Background : Although the pericentric inversion of chromosome 9, inv(9)(p11q13), is generally considered a normal variation, it is also associated with solid tumors and several hematologic malignancies such as biphenotypic acute leukemia, ALL, AML, and myeloproliferative neoplasms. However, to the best of our knowledge, there have been no reports that suggest an association between CML and constitutional pericentric inversion of chromosome 9. The purpose of this retrospective study was to investigate the frequency and clinical features of CML patients with concomitant inv(9) and t(9;22)(q34;q11.2) variation at our institution.Methods : We reviewed the bone marrow chromosome database entries between October 2006 and December 2008 to identify patients with concomitant inv(9) and t(9;22) variations. Laboratory and clinical data of the patients were obtained from the electronic medical record system.Results : Among the 51 CML patients, 4 (7.8%) had concomitant inv(9) and t(9;22) variations. Conclusions : Although the association between inv(9) variation and CML is still controversial, we believe that hematologists should consider the role of constitutional inv(9) variation in CML patients to avoid overlooking the impaired engraftment potential of hematopoietic stem cells harboring inv(9). Therefore, we suggest that more effort should be invested to develop cytogenetic tests for detecting constitutional inv(9) variation in CML patients. (Korean J Lab Med 2010;30:218-23)

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“…The question of whether the patients with these aberrations were at greater risk of hematologic malignancy remained unanswered. Cerretini et al [23] reviewed 4,164 patients with various hematologic disorders cytogenetically studied in their laboratory to analyze the frequency of constitutional chromosome abnormalities and to evaluate their association with hematologic malignancies. Twenty-four cases presented constitutional anomalies including five cases with structural abnormalities and 19 cases with numerical aberrations.…”

Section: Incidence Of Constitutional Structural Chromosomal Changes Imentioning

confidence: 99%

Is there an association with constitutional structural chromosomal abnormalities and hematologic neoplastic process? A short review

Panani

2009

Ann Hematol

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Evaluation of constitutional chromosome aberrations in hematologic disorders

Cited by 16 publications

References 35 publications

Population‐based study of cancer among carriers of a constitutional structural chromosomal rearrangement

Population‐based study of cancer among carriers of a constitutional structural chromosomal rearrangement

Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia

Is there an association with constitutional structural chromosomal abnormalities and hematologic neoplastic process? A short review

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