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Biphasic, Hyperdiploid Breast Tumors in Children: A Distinct Entity?

Walther, Charles LU ; Gisselsson Nord, David LU ; Magnusson, Linda LU ; Nilsson, Jenny LU ; Grabau, Dorthe LU ; Kullendorff, Carl-Magnus LU ; Hansén Nord, Karolin LU and Mertens, Fredrik LU (2012) In Journal of Pediatric Hematology/Oncology
Abstract
BACKGROUND:: The differentiation between a giant fibroadenoma and a phyllodes tumor can be a precarious diagnostic task. However, the distinction between the 2 lesions is important to make, especially since the latter can be malignant and consequently the prognoses differ. PROCEDURE:: We used various genetic approaches to study a breast tumor showing features of both entities in a 10-year-old girl with a congenital cerebral malformation and diabetes mellitus. RESULTS:: Cytogenetic analysis of cultured tumor cells from 3 different samples revealed a hyperdiploid karyotype: 50-54,XX,+5,+13,+17,+18,+19,+20,+21. High-resolution single nucleotide polymorphism array analysis not only confirmed the trisomies, but also revealed uniparental disomy... (More)
BACKGROUND:: The differentiation between a giant fibroadenoma and a phyllodes tumor can be a precarious diagnostic task. However, the distinction between the 2 lesions is important to make, especially since the latter can be malignant and consequently the prognoses differ. PROCEDURE:: We used various genetic approaches to study a breast tumor showing features of both entities in a 10-year-old girl with a congenital cerebral malformation and diabetes mellitus. RESULTS:: Cytogenetic analysis of cultured tumor cells from 3 different samples revealed a hyperdiploid karyotype: 50-54,XX,+5,+13,+17,+18,+19,+20,+21. High-resolution single nucleotide polymorphism array analysis not only confirmed the trisomies, but also revealed uniparental disomy (UPD) for chromosomes 10, 11, and 22. A consequence of UPD11 was a homozygous deletion in chromosome band 11p15 affecting the PARVA gene; this gene was hemizygously lost in constitutional DNA. Extended analysis of the family revealed that the deletion was inherited, but it did not segregate with breast tumors or congenital malformations. CONCLUSIONS:: Combined with the literature data, the findings in the present case strongly suggest that biphasic tumors with high hyperdiploid karyotypes constitute a distinct clinicomorphologic subgroup of benign breast tumors, being particularly common among young children. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Pediatric Hematology/Oncology
publisher
Lippincott Williams & Wilkins
external identifiers
  • wos:000312542200016
  • pmid:23128331
  • scopus:84871793100
ISSN
1536-3678
DOI
10.1097/MPH.0b013e3182752877
language
English
LU publication?
yes
id
e8a42b79-e8cd-411e-8ce1-97bada8e433f (old id 3219227)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23128331?dopt=Abstract
date added to LUP
2012-12-03 13:21:54
date last changed
2017-04-09 04:28:27
@article{e8a42b79-e8cd-411e-8ce1-97bada8e433f,
  abstract     = {BACKGROUND:: The differentiation between a giant fibroadenoma and a phyllodes tumor can be a precarious diagnostic task. However, the distinction between the 2 lesions is important to make, especially since the latter can be malignant and consequently the prognoses differ. PROCEDURE:: We used various genetic approaches to study a breast tumor showing features of both entities in a 10-year-old girl with a congenital cerebral malformation and diabetes mellitus. RESULTS:: Cytogenetic analysis of cultured tumor cells from 3 different samples revealed a hyperdiploid karyotype: 50-54,XX,+5,+13,+17,+18,+19,+20,+21. High-resolution single nucleotide polymorphism array analysis not only confirmed the trisomies, but also revealed uniparental disomy (UPD) for chromosomes 10, 11, and 22. A consequence of UPD11 was a homozygous deletion in chromosome band 11p15 affecting the PARVA gene; this gene was hemizygously lost in constitutional DNA. Extended analysis of the family revealed that the deletion was inherited, but it did not segregate with breast tumors or congenital malformations. CONCLUSIONS:: Combined with the literature data, the findings in the present case strongly suggest that biphasic tumors with high hyperdiploid karyotypes constitute a distinct clinicomorphologic subgroup of benign breast tumors, being particularly common among young children.},
  author       = {Walther, Charles and Gisselsson Nord, David and Magnusson, Linda and Nilsson, Jenny and Grabau, Dorthe and Kullendorff, Carl-Magnus and Hansén Nord, Karolin and Mertens, Fredrik},
  issn         = {1536-3678},
  language     = {eng},
  month        = {11},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Journal of Pediatric Hematology/Oncology},
  title        = {Biphasic, Hyperdiploid Breast Tumors in Children: A Distinct Entity?},
  url          = {http://dx.doi.org/10.1097/MPH.0b013e3182752877},
  year         = {2012},
}