title: Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Milano-Bicocca, Monza e Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Monza, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Motta
authors.affiliation: Department of Pediatrics, University of Milano-Bicocca, Monza e Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Monza, Italy.
authors.forename: Debora
authors.initials: D
authors.lastname: Sala
authors.affiliation: Department of Pediatrics, University of Milano-Bicocca, Monza e Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Monza, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Sala
authors.affiliation: Department of Pediatrics, Tettamanti Research Center, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cazzaniga
authors.affiliation: Department of Pediatrics, Tettamanti Research Center, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Giudici
authors.affiliation: Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Villa
authors.affiliation: Department of Pediatrics, University of Milano-Bicocca, Monza e Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Monza, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Biondi
authors.affiliation: Department of Pediatrics, Pediatric Genetic Unit, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D003520:Cyclophosphamide / Q000627:therapeutic use; D006689:Hodgkin Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011241:Prednisone / Q000627:therapeutic use; D011344:Procarbazine / Q000627:therapeutic use; D016896:Treatment Outcome; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D000073842:Trisomy 18 Syndrome; D014750:Vincristine / Q000627:therapeutic use
chemical_list: D011344:Procarbazine; D014750:Vincristine; D003520:Cyclophosphamide; D011241:Prednisone
keywords: Hodgkin lymphoma; mosaic trisomy 18