Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup

Evelina Miele; Angela Mastronuzzi; Agnese Po; Andrea Carai; Vincenzo Alfano; Annalisa Serra; Giovanna Stefania Colafati; Luisa Strocchio; Manila Antonelli; Francesca Romana Buttarelli; Massimo Zani; Sergio Ferraro; Amelia Buffone; Alessandra Vacca; Isabella Screpanti; Felice Giangaspero; Giuseppe Giannini; Franco Locatelli; Elisabetta Ferretti

doi:10.1186/s40364-015-0038-z

Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup

Evelina Miele, Angela Mastronuzzi, Agnese Po, Andrea Carai, Vincenzo Alfano, Annalisa Serra, Giovanna Stefania Colafati, Luisa Strocchio, Manila Antonelli, Francesca Romana Buttarelli, Massimo Zani, Sergio Ferraro, Amelia Buffone, Alessandra Vacca, Isabella Screpanti, Felice Giangaspero, Giuseppe Giannini, Franco Locatelli, Elisabetta Ferretti

Research output: Contribution to journal › Article

Abstract

Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.

Original language	English
Pages (from-to)	1-13
Number of pages	13
Journal	Biomarker Research
Volume	3
DOIs	https://doi.org/10.1186/s40364-015-0038-z
Publication status	Published - 2015

Keywords

BRCA2
FANCD1
SHH molecular subgroup
Medulloblastoma
Fanconi anemia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1186/s40364-015-0038-z

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Miele, E., Mastronuzzi, A., Po, A., Carai, A., Alfano, V., Serra, A., Colafati, G. S., Strocchio, L., Antonelli, M., Buttarelli, F. R., Zani, M., Ferraro, S., Buffone, A., Vacca, A., Screpanti, I., Giangaspero, F., Giannini, G., Locatelli, F., & Ferretti, E. (2015). Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup. Biomarker Research, 3, 1-13. https://doi.org/10.1186/s40364-015-0038-z

@article{5a7f28ff3ab84f209499db4ef9332ad8,

title = "Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup",

abstract = "Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.",

keywords = "BRCA2, FANCD1, SHH molecular subgroup, Medulloblastoma, Fanconi anemia, BRCA2, FANCD1, SHH molecular subgroup, Medulloblastoma, Fanconi anemia",

author = "Evelina Miele and Angela Mastronuzzi and Agnese Po and Andrea Carai and Vincenzo Alfano and Annalisa Serra and Colafati, {Giovanna Stefania} and Luisa Strocchio and Manila Antonelli and Buttarelli, {Francesca Romana} and Massimo Zani and Sergio Ferraro and Amelia Buffone and Alessandra Vacca and Isabella Screpanti and Felice Giangaspero and Giuseppe Giannini and Franco Locatelli and Elisabetta Ferretti",

year = "2015",

doi = "10.1186/s40364-015-0038-z",

language = "English",

volume = "3",

pages = "1--13",

journal = "Biomarker Research",

issn = "2050-7771",

publisher = "BioMed Central Ltd.",

}

Miele, E, Mastronuzzi, A, Po, A, Carai, A, Alfano, V, Serra, A, Colafati, GS, Strocchio, L, Antonelli, M, Buttarelli, FR, Zani, M, Ferraro, S, Buffone, A, Vacca, A, Screpanti, I, Giangaspero, F, Giannini, G, Locatelli, F & Ferretti, E 2015, 'Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup', Biomarker Research, vol. 3, pp. 1-13. https://doi.org/10.1186/s40364-015-0038-z

TY - JOUR

T1 - Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup

AU - Miele, Evelina

AU - Mastronuzzi, Angela

AU - Po, Agnese

AU - Carai, Andrea

AU - Alfano, Vincenzo

AU - Serra, Annalisa

AU - Colafati, Giovanna Stefania

AU - Strocchio, Luisa

AU - Antonelli, Manila

AU - Buttarelli, Francesca Romana

AU - Zani, Massimo

AU - Ferraro, Sergio

AU - Buffone, Amelia

AU - Vacca, Alessandra

AU - Screpanti, Isabella

AU - Giangaspero, Felice

AU - Giannini, Giuseppe

AU - Locatelli, Franco

AU - Ferretti, Elisabetta

PY - 2015

Y1 - 2015

N2 - Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.

AB - Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.

KW - BRCA2

KW - FANCD1

KW - SHH molecular subgroup

KW - Medulloblastoma

KW - Fanconi anemia

KW - BRCA2

KW - FANCD1

KW - SHH molecular subgroup

KW - Medulloblastoma

KW - Fanconi anemia

UR - http://hdl.handle.net/10807/228561

U2 - 10.1186/s40364-015-0038-z

DO - 10.1186/s40364-015-0038-z

M3 - Article

SN - 2050-7771

VL - 3

SP - 1

EP - 13

JO - Biomarker Research

JF - Biomarker Research

ER -

Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup

Abstract

Keywords

UN SDGs

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