Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

Massimo Carella; Filippo Spreafico; Orazio Palumbo; Clelia Tiziana Storlazzi; Silvia Tabano; Monica Miozzo; Lucia Miglionico; Savino Calvano; Giulia Sindici; Beatrice Gamba; Luciana Impera; Paola Collini; Leopoldo Zelante; Paolo Radice; Daniela Perotti

doi:10.1002/ajmg.a.33420

Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

Massimo Carella, Filippo Spreafico, Orazio Palumbo, Clelia Tiziana Storlazzi, Silvia Tabano, Monica Miozzo, Lucia Miglionico, Savino Calvano, Giulia Sindici, Beatrice Gamba, Luciana Impera, Paola Collini, Leopoldo Zelante, Paolo Radice, Daniela Perotti

Research output: Contribution to journal › Article › peer-review

Abstract

We report on a boy with three cell lines: 46,XY, r(11)(p15.5, q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8Mb at 11p15.5-11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith-Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development.

Original language	English
Pages (from-to)	1756-1763
Number of pages	8
Journal	American Journal of Medical Genetics, Part A
Volume	152
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.33420
Publication status	Published - 2010

Keywords

11p15 duplication
Ring chromosome 11
SNPs array
Wilms tumor

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Medicine(all)

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Carella, M., Spreafico, F., Palumbo, O., Storlazzi, C. T., Tabano, S., Miozzo, M., Miglionico, L., Calvano, S., Sindici, G., Gamba, B., Impera, L., Collini, P., Zelante, L., Radice, P., & Perotti, D. (2010). Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies. American Journal of Medical Genetics, Part A, 152(7), 1756-1763. https://doi.org/10.1002/ajmg.a.33420

Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient : Cytogenetic, molecular and clinico-pathological studies. / Carella, Massimo ; Spreafico, Filippo ; Palumbo, Orazio; Storlazzi, Clelia Tiziana; Tabano, Silvia; Miozzo, Monica; Miglionico, Lucia; Calvano, Savino; Sindici, Giulia; Gamba, Beatrice; Impera, Luciana; Collini, Paola; Zelante, Leopoldo; Radice, Paolo ; Perotti, Daniela.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 7, 2010, p. 1756-1763.

Research output: Contribution to journal › Article › peer-review

Carella, M , Spreafico, F , Palumbo, O, Storlazzi, CT, Tabano, S, Miozzo, M, Miglionico, L, Calvano, S, Sindici, G, Gamba, B, Impera, L, Collini, P, Zelante, L, Radice, P & Perotti, D 2010, 'Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies', American Journal of Medical Genetics, Part A, vol. 152, no. 7, pp. 1756-1763. https://doi.org/10.1002/ajmg.a.33420

Carella, Massimo ; Spreafico, Filippo ; Palumbo, Orazio ; Storlazzi, Clelia Tiziana ; Tabano, Silvia ; Miozzo, Monica ; Miglionico, Lucia ; Calvano, Savino ; Sindici, Giulia ; Gamba, Beatrice ; Impera, Luciana ; Collini, Paola ; Zelante, Leopoldo ; Radice, Paolo ; Perotti, Daniela. / Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient : Cytogenetic, molecular and clinico-pathological studies. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 7. pp. 1756-1763.

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abstract = "We report on a boy with three cell lines: 46,XY, r(11)(p15.5, q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8Mb at 11p15.5-11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith-Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development.",

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AU - Storlazzi, Clelia Tiziana

AU - Tabano, Silvia

AU - Miozzo, Monica

AU - Miglionico, Lucia

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AU - Sindici, Giulia

AU - Gamba, Beatrice

AU - Impera, Luciana

AU - Collini, Paola

AU - Zelante, Leopoldo

AU - Radice, Paolo

AU - Perotti, Daniela

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AB - We report on a boy with three cell lines: 46,XY, r(11)(p15.5, q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8Mb at 11p15.5-11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith-Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development.

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