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.

Motta, S., Sala, D., Sala, A., Cazzaniga, G., Giudici, G., Villa, N., et al. (2016). Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 170(3), 777-780 [10.1002/ajmg.a.37504].

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation

MOTTA, SERENA
Primo
;
SALA, DEBORA
Secondo
;
CAZZANIGA, GIOVANNI ITALO;VILLA, NICOLETTA;BIONDI, ANDREA
Penultimo
;
2016

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.
Articolo in rivista - Articolo scientifico
Hodgkin lymphoma; Mosaic trisomy 18;
Hodgkin lymphoma; Mosaic trisomy 18; Abnormalities, Multiple; Adolescent; Antineoplastic Combined Chemotherapy Protocols; Chromosomes, Human, Pair 18; Cyclophosphamide; Hodgkin Disease; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Phenotype; Prednisone; Procarbazine; Treatment Outcome; Trisomy; Vincristine; Mosaicism; Genetics (clinical); Genetics
English
777
780
4
Motta, S., Sala, D., Sala, A., Cazzaniga, G., Giudici, G., Villa, N., et al. (2016). Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 170(3), 777-780 [10.1002/ajmg.a.37504].
Motta, S; Sala, D; Sala, A; Cazzaniga, G; Giudici, G; Villa, N; Biondi, A; Selicorni, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/141456
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