Malignant melanoma arising in a primary mediastinal germ cell tumor

Sherry, Lance; Chornenkyy, Yevgen; Swete, Michael; Kim, Samuel S.; Bharat, Ankit; Yang, Ximing J.; Yeldandi, Anjana V.

doi:10.1016/j.prp.2020.153210

Cited by 2 publications

(5 citation statements)

References 18 publications

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“…Germ cell tumor with MST to melanoma is an exceedingly rare phenomenon and only recently reported. We conducted a literature search in PubMed using the key words, “germ cell tumor” “melanoma,” “malignant transformation,” and “mediastinum,” and found 5 cases of malignant melanoma arising in primary mediastinal GCT 7–11 . Only one of these cases reported multilineage malignant transformation, as was found in our case.…”

Section: Discussionmentioning

confidence: 61%

“…We conducted a literature search in PubMed using the key words, "germ cell tumor" "melanoma," "malignant transformation," and "mediastinum," and found 5 cases of malignant melanoma arising in primary mediastinal GCT. [7][8][9][10][11] Only one of these cases reported multilineage malignant transformation, as was found in our case. The 5 case reports and their characteristics are summarized in Table 1.…”

Section: Discussionmentioning

confidence: 65%

“…Based on our literature search, there are 5 cases that reported this type of transformation in mediastinal GCTs. [7][8][9][10][11]…”

mentioning

confidence: 99%

“…Melanoma was only recently described as a malignant transformation arising in a mediastinal GCT. Based on our literature search, there are 5 cases that reported this type of transformation in mediastinal GCTs 7–11 …”

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confidence: 99%

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Malignant Melanoma Arising in a Primary Mediastinal Teratoma: Case Report of a Rare Phenomenon and Review of the Literature

Khafateh¹,

Preciado²,

Elder³

et al. 2022

AJSP: Reviews and Reports

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Primary mediastinal germ cell tumors (GCTs) account for a small subset of all GCTs. Teratoma is the most common GCT of the mediastinum and usually occurs in adults from 20 to 40 years of age. Malignant somatic transformation is a rare phenomenon that has been described in both primary and metastatic mediastinal GCTs. The most common types of malignant somatic transformation described in mediastinal GCTs are sarcomas and carcinomas, with very few cases of melanoma found in the literature. We report the case of a 21-year-old male patient who presented with anterior mediastinal mass that on initial biopsy and workup revealed a mediastinal mixed GCTwith teratoma and yolk sac components. Following chemotherapy, the resected mass demonstrated residual teratoma with malignant transformation into melanocytic, neuroectodermal, and undifferentiated sarcomatous elements. The patient rapidly developed metastases to the lung, liver, spleen, and spine. Biopsy of the bone marrow and liver confirmed metastatic dissemination by melanocytic transformed GCT. Molecular analysis for BRAF mutation was negative. The rapid multiorgan pattern of metastatic spread indicates a very aggressive phenotype. This case represents the second reported case of malignant melanocytic tumor as part of multilineage malignant differentiation arising from mediastinal GCT.

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Section: Discussionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 65%

“…Based on our literature search, there are 5 cases that reported this type of transformation in mediastinal GCTs. [7][8][9][10][11]…”

mentioning

confidence: 99%

mentioning

confidence: 99%

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Malignant Melanoma Arising in a Primary Mediastinal Teratoma: Case Report of a Rare Phenomenon and Review of the Literature

Khafateh¹,

Preciado²,

Elder³

et al. 2022

AJSP: Reviews and Reports

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“…This secondary transformation into a somatic tumour may occur simultaneously with primary GCTs, after completion of chemotherapy or remotely and are associated with a much poorer prognosis [ 13 , 14 ]. Review of the current literature identifies three case reports in which histologically confirmed melanoma has been present in GCT tissue or with synchronous presentation as disseminated disease [ 15 , 16 , 17 ]. However, a case of concurrent AMKL and metastatic melanoma has yet to be described.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2021

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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.

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Malignant melanoma arising in a primary mediastinal germ cell tumor

Cited by 2 publications

References 18 publications

Malignant Melanoma Arising in a Primary Mediastinal Teratoma: Case Report of a Rare Phenomenon and Review of the Literature

Malignant Melanoma Arising in a Primary Mediastinal Teratoma: Case Report of a Rare Phenomenon and Review of the Literature

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

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