Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman‐Diamond Syndrome

Pressato, Barbara; Marletta, Cristina; Montalbano, Giuseppe; Valli, Roberto; Maserati, Emanuela

doi:10.1111/j.1365-2141.2010.08243.x

Cited by 6 publications

(6 citation statements)

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“…SNP-array genotyping was performed on 14 SDS patients (Tables I and SI with raw data). Copy number variation analysis confirmed the presence of i(7)(q10) and del(20)(q), already identified by chromosome analyses and a-CGH (Maserati et al, 2009;Pressato et al, 2010;Nacci et al, 2017) (Table III). Interestingly, cnLOH regions involving the long arm of chromosome 20 were detected in three patients, namely UPN 1, 40 and 54.…”

Section: Resultssupporting

confidence: 74%

“…SNP-arrays were performed on 14 cases (UPN 1,2,13,14,20,24,29,35,36,40,54,58,65 and 84), seven of whom carry del(20)(q), two carry del(20)(q) in combination with i(7)(q10), six with i(7)(q10) alone and one exhibited an unbalanced translocation t(1;16)(q21;q23) ( Table I). Results of chromosome analysis and/or a-CGH of patients UPN 1,2,6,13,14,17,20,24,29,35,36,40,65 and 68 have already been partially reported (Maserati et al, 2006(Maserati et al, , 2009Pressato et al, 2010;Valli et al, 2013) (Table I).…”

Section: Methodsmentioning

confidence: 90%

“…The 12 patients with del(20)(q) reported here are quite old for a disorder that is usually diagnosed in infants or children (Dror, ), as their age range is (in 2018), 14–44 years, with an average of 23 years. Also, this fact should be taken into account with regard to the risk of MDS/AML evolution, as it is well known that this risk increases with age (Maserati et al , ; Shimamura, ; Maserati et al , ; Pressato et al , ). Similarly, it is noteworthy that none of our patients showed haematogical features indicating progression towards BM severe aplasia.…”

Section: Discussionmentioning

confidence: 99%

“…‡Cytogenetic analysis results reported in Maserati et al (2009). §Chromosome analysis and a-CGH results reported in Pressato et al (2010). ¶a-CGH confirms the i (7)(q10) Table I, genotyped by the Affymetrix â Cytogenetics Whole-Genome 2.7M Array (6 cases) or Affymetrix CytoScan HD Array (8 cases) (Affymetrix, Santa Clara, CA, USA) according to the manufacturer's protocol.…”

Section: Upnmentioning

confidence: 99%

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Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

et al. 2018

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Summary In Shwachman‐Diamond syndrome (SDS), deletion of the long arm of chromosome 20, del(20)(q), often acquired in bone marrow (BM), may imply a lower risk of developing myelodysplastic syndrome/acute myeloid leukaemia (MDS/AML), due to the loss of the EIF6 gene. The genes L3MBTL1 and SGK2, also on chromosome 20, are in a cluster of imprinted genes, and their loss implies dysregulation of BM function. We report here the results of array comparative genomic hybridization (a‐CGH) performed on BM DNA of six patients which confirmed the consistent loss of EIF6 gene. Interestingly, array single nucleotide polymorphisms (SNPs) showed copy neutral loss of heterozygosity for EIF6 region in cases without del(20)(q). No preferential parental origin of the deleted chromosome 20 was detected by microsatellite analysis in six SDS patients. Our patients showed a very mild haematological condition, and none evolved into BM aplasia or MDS/AML. We extend the benign prognostic significance of del(20)(q) and loss of EIF6 to the haematological features of these patients, consistently characterized by mild hypoplastic BM, no or mild neutropenia, anaemia and thrombocytopenia. Some odd results obtained in microsatellite and SNP‐array analysis demonstrate a peculiar genomic instability, in an attempt to improve BM function through the acquisition of the del(20)(q).

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Section: Resultssupporting

confidence: 74%

Section: Methodsmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Upnmentioning

confidence: 99%

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Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

et al. 2018

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“…Two recurrent cytogenetic anomalies have been observed, i(7)(q10) and del(20q), which can be indolent and sometimes even transient. [25][26][27][28][29][30][31][32][33] However, these same abnormalities can also announce or be associated with a frank malignant outcome, [34][35][36] as we observed in two cases in this survey. In addition to the patients with i(7)(q10) and del(20q), we also observed an indolent profile in two other patients, one with t(16;20) in addition to i(7)(q10) and one with a complex abnormality of chromosome 9 (Online Supplementary Table S1).…”

Section: Discussionmentioning

confidence: 52%

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

et al. 2012

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The online version of this article has a Supplementary Appendix. BackgroundPatients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. Design and MethodsOne hundred and two patients with Shwachman-Diamond syndrome, with a median followup of 11.6 years, were studied. Major hematologic complications were considered in the case of definitive severe cytopenia (i.e. anemia <7 g/dL or thrombocytopenia <20×10 9 /L), classified as malignant (myelodysplasia/leukemia) according to the 2008 World Health Organization classification or as non-malignant. ResultsSevere cytopenia was observed in 21 patients and classified as malignant severe cytopenia (n=9), non-malignant severe cytopenia (n=9) and malignant severe cytopenia preceded by nonmalignant severe cytopenia (n=3). The 20-year cumulative risk of severe cytopenia was 24.3% (95% confidence interval: 15.3%-38.5%). Young age at first symptoms (<3 months) and low hematologic parameters both at diagnosis of the disease and during the follow-up were associated with severe hematologic complications (P<0.001). Fifteen novel SBDS mutations were identified. Genotype analysis showed no discernible prognostic value. ConclusionsPatients with Shwachman-Diamond syndrome with very early symptoms or cytopenia at diagnosis (even mild anemia or thrombocytopenia) should be considered at a high risk of severe hematologic complications, malignant or non-malignant. Transient severe cytopenia or an indolent cytogenetic clone had no deleterious value.Key words: Shwachman-Diamond syndrome, genotype, aplastic anemia, secondary leukemia, cytopenia, myelodysplasia, monosomy 7.Citation: Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C, and Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

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Parental origin of the deletion del(20q) in Shwachman‐Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene

Nacci

Valli

Pinto

et al. 2016

Genes Chromosomes & Cancer

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Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (P < 0.012), and a difference slightly above the significance level for RBC counts (P < 0.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU-E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes. © 2016 Wiley Periodicals, Inc.

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Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman‐Diamond Syndrome

Abstract: pleiocytosis in cerebrospinal fluid: is accurate cytopathologic diagnosis possible based on morphology alone? Diagnostic Cytopathology, 37, 820-824.

Cited by 6 publications

References 7 publications

Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Parental origin of the deletion del(20q) in Shwachman‐Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene

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