Extragonadal Germ-Cell Tumor: A Rare Differential Diagnosis of a Cervical Lump in a Young Man

In this case report, we discuss the potential diagnostic difficulty of identifying the cause or origin of a cervical swelling, a clinical situation often encountered in otolaryngology patients. A 30-year-old man came to us with a painless left cervical lump that he had noticed 8 weeks earlier. A series of examinations—including various biopsies, computed tomography, and extensive staging procedures—could not establish the diagnosis. We eventually identified the mass as an extragonadal germ-cell tumor. The diagnosis was established only after additional serologic testing and detection of tumor markers specific for extragonadal germ-cell tumor.

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Non-seminomatous extragonadal germ cell tumor (yolk sack tumor) in liver of a 17 years old patient with discrepancy in ultrasound and CT findings – a case report

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-2007-988883 ◽

2007 ◽

Vol 28 (S 1) ◽

Author(s):

A Krnic ◽

K Luetic ◽

D Jurcic ◽

J Bago ◽

N Ljubic ◽

...

Keyword(s):

Case Report ◽

Germ Cell ◽

Germ Cell Tumor ◽

Cell Tumor ◽

Extragonadal Germ Cell Tumor ◽

Ct Findings ◽

Yolk Sack

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Recurrence of a Mediastinal Germ-Cell Tumor as a Somatic-Type Malignancy: A Complex Case Report

International Journal of Molecular Sciences ◽

10.3390/ijms22179310 ◽

2021 ◽

Vol 22 (17) ◽

pp. 9310

Author(s):

Caroline C. C. Hulsker ◽

Mariëtte E. G. Kranendonk ◽

Thomas F. Eleveld ◽

Ad J. M. Gillis ◽

Cornelis P. van de Ven ◽

...

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Germ Cell ◽

Germ Cell Tumor ◽

Germ Cell Tumors ◽

Large Cell ◽

Cell Tumor ◽

Complex Case ◽

Adolescent Male ◽

Cell Malignancy

Background and case: An adolescent male presented with a second mediastinal tumor 1.5 years after treatment of a proven malignant germ-cell tumor in that location. The differential diagnosis included a recurrent germ-cell tumor or a non-germ cell malignancy. Serum tumor markers alpha-fetoprotein (AFP) and human chorionic gonadotrophin (HCG) were negative. The first biopsy was not informative, and the second biopsy gave a broad differential diagnosis including secondary non-germ cell malignancy using histology and immunohistochemistry. DNA methylation profiling, RNA sequencing, and targeted microRNA371a-3p profiling was subsequently performed, without a supportive result. After resection of the tumor the definitive diagnosis yielded two secondary non-germ cell malignancies in the form of a leiomyosarcoma and a solitary neuro endocrine carcinoma (NEC). In spite of the differences between the molecular profiles of the initial germ-cell tumor, the leiomyosarcoma and large-cell NEC are clonally related, as determined by the presence of identical chromosomal breakpoints. The copy number profiles suggest an initial polyploidization step, followed by various independent chromosomal gains and losses. This case demonstrates that germ-cell tumors must be evaluated carefully, including molecularly, in which the non-germ cell malignancy is negative for miR-371a-3p, both in tissue as well as in serum, in contrast to the primary tumor. We conclude that the patient presented with a primary type II mediastinal GCT and, a year and a half later, followed by a leiomyosarcoma and a large-cell NEC presenting as two secondary somatic-type malignancies clonally related to the original GCT. Conclusions: Malignant germ-cell tumors are known to recur as a somatic-type malignancy in very rare cases. This case report illustrates the challenges faced in defining the nature and clonality of the secondary somatic-type malignancies.

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