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Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation
Author(s) -
Motta Serena,
Sala Debora,
Sala Alessandra,
Cazzaniga Giovanni,
Giudici Giovanni,
Villa Nicoletta,
Biondi Andrea,
Selicorni Angelo
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37504
Subject(s) - trisomy , lymphoma , medicine , pathology , non hodgkin's lymphoma , biopsy , bone marrow , nodular sclerosis , trisomy 8 , cytogenetics , hodgkin lymphoma , chromosome , biology , genetics , gene , biochemistry
We report the case of a 17‐year‐old boy with a mosaic trisomy 18, who was diagnosed with Hodgkin lymphoma. The patient showed only poor growth and two muscular ventricular septal defects; no facial dysmorphims were present. He was admitted to our hospital because of asthenia and weight loss; a mediastinal enlargement was found and an histological diagnosis of nodular sclerosis Hodgkin lymphoma on mediastinal biopsy was performed. Contextually, a chromosomal analysis on bone marrow aspirate and on peripheral blood revealed a mosaic trisomy 18. This result was confirmed also with cytogenetic analysis on skin fibroblasts. While there is a well‐documented association between trisomy 18 and solid cell tumors, this is, to our knowledge, the first reported case of Hodgkin lymphoma in a patient with a mosaic trisomy 18, enlarging the spectrum of possible oncologic manifestations of the disease. © 2015 Wiley Periodicals, Inc.