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.

A tumor profile in Edwards syndrome (trisomy 18)

“…A stage IB Hodgkin lymphoma has been observed 17‐year‐old boy with mosaic trisomy 18. He has been successfully treated by usual chemotherapy with four cycles of COPP (cyclophosphamide, vincristin, procarbazine, prednisone/ABU (adriamycin, bleomycin, vinblastine) and local mediastinal radiotherapy with a total dose of 14.4 Gy [Motta et al, ]. In the digestive tract, an adenomyosis of the stomach and a jejunal polyp, respectively, were discovered at autopsy of a 3‐day‐old and a 16‐day‐old infant [Kinoshita et al, ].…”

Solid tumor screening recommendations in trisomy 18

“…Motta reported a 17‐year‐old with mosaic trisomy 18 who developed Hodgkins lymphoma and underwent chemotherapy and radiation therapy. Complete remission was achieved (Motta et al, ).…”

Trisomía 18 en mosaico. Serie de casos.

“…Además, se ha asociado la T18 en mosaico con hepatoblastoma 4,6,7 y, en un caso, con linfoma de Hodgkin. 2 Es por esto por lo que, aparte de las evaluaciones realizadas, los pacientes deben ser seguidos por la Unidad de Oncología Pediátrica ante el posible riesgo de presentar cáncer.…”

“…Aproximadamente, 90% de los pacientes fallecen en el primer año. [1][2][3] Además, se han presentado casos de T18 en forma parcial y mosaico. 1 La T18 en mosaico se presenta cuando células con trisomía del cromosoma 18 y líneas celulares normales existen en un mismo individuo, y corresponde al 5% de los casos.…”

“…No obstante, no se evidencia una correlación entre el porcentaje de células trisómicas en leucocitos o fibroblastos y los hallazgos clínicos encontrados. 1,2 El objetivo es presentar una serie de cinco casos, en el período de 2011-2015, de T18 en mosaico. Se hace énfasis en los hallazgos clínicos con la finalidad de orientar una atención médica interdisciplinaria y brindar un oportuno asesoramiento genético familiar.…”