Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report

Somatic malignant transformation of germ cell tumours is a well-described but poorly understood phenomenon. It is characterized by differentiation of pluripotent teratoma cells into somatic tumour cells. Following malignant transformation, the most common histologies are sarcomas and primitive neuro...

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Autores principales: Veena Gullapalli, Hannah Hsu, Vanita Bhargava, Peter Presgrave
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Publicado: Karger Publishers 2021
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spelling oai:doaj.org-article:c5049e0f2855410fb63814629b3a2db32021-12-02T12:40:23ZSynchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report1662-657510.1159/000519663https://doaj.org/article/c5049e0f2855410fb63814629b3a2db32021-11-01T00:00:00Zhttps://www.karger.com/Article/FullText/519663https://doaj.org/toc/1662-6575Somatic malignant transformation of germ cell tumours is a well-described but poorly understood phenomenon. It is characterized by differentiation of pluripotent teratoma cells into somatic tumour cells. Following malignant transformation, the most common histologies are sarcomas and primitive neuroectodermal tumours; however, other subtypes have been recognized including melanoma, leukaemia, and renal cell carcinoma. We report a case of a 38-year-old male who had recently completed treatment for a mediastinal germ cell tumour with teratomatous components. He presented several months after completion of chemotherapy with metastatic lesions in his spine and liver accompanied with severe pancytopenia. He was subsequently diagnosed with acute megakaryoblastic leukaemia (AMKL), and a biopsy of a liver lesion was consistent with metastatic melanoma. This case illustrates the simultaneous development of 2 rare malignant entities: mediastinal germ cell tumour-associated AMKL and somatic malignant transformation to melanoma. It also highlights the importance of close surveillance to detect these metastatic sequelae and the emerging role of tumour sequencing to establish targetable pathways.Veena GullapalliHannah HsuVanita BhargavaPeter PresgraveKarger Publishersarticlegerm cell tumourmelanomaacute megakaryocytic leukaemiatp53somatic malignant transformationNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCase Reports in Oncology, Vol 14, Iss 3, Pp 1638-1644 (2021)
institution DOAJ
collection DOAJ
language EN
topic germ cell tumour
melanoma
acute megakaryocytic leukaemia
tp53
somatic malignant transformation
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
spellingShingle germ cell tumour
melanoma
acute megakaryocytic leukaemia
tp53
somatic malignant transformation
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Veena Gullapalli
Hannah Hsu
Vanita Bhargava
Peter Presgrave
Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report
description Somatic malignant transformation of germ cell tumours is a well-described but poorly understood phenomenon. It is characterized by differentiation of pluripotent teratoma cells into somatic tumour cells. Following malignant transformation, the most common histologies are sarcomas and primitive neuroectodermal tumours; however, other subtypes have been recognized including melanoma, leukaemia, and renal cell carcinoma. We report a case of a 38-year-old male who had recently completed treatment for a mediastinal germ cell tumour with teratomatous components. He presented several months after completion of chemotherapy with metastatic lesions in his spine and liver accompanied with severe pancytopenia. He was subsequently diagnosed with acute megakaryoblastic leukaemia (AMKL), and a biopsy of a liver lesion was consistent with metastatic melanoma. This case illustrates the simultaneous development of 2 rare malignant entities: mediastinal germ cell tumour-associated AMKL and somatic malignant transformation to melanoma. It also highlights the importance of close surveillance to detect these metastatic sequelae and the emerging role of tumour sequencing to establish targetable pathways.
format article
author Veena Gullapalli
Hannah Hsu
Vanita Bhargava
Peter Presgrave
author_facet Veena Gullapalli
Hannah Hsu
Vanita Bhargava
Peter Presgrave
author_sort Veena Gullapalli
title Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report
title_short Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report
title_full Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report
title_fullStr Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report
title_full_unstemmed Synchronous Development of Acute Megakaryoblastic Leukaemia and Disseminated Melanoma following Treatment of a Germ Cell Tumour: A Case Report
title_sort synchronous development of acute megakaryoblastic leukaemia and disseminated melanoma following treatment of a germ cell tumour: a case report
publisher Karger Publishers
publishDate 2021
url https://doaj.org/article/c5049e0f2855410fb63814629b3a2db3
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AT vanitabhargava synchronousdevelopmentofacutemegakaryoblasticleukaemiaanddisseminatedmelanomafollowingtreatmentofagermcelltumouracasereport
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