By Lynn McCain

The Division of Anatomic Pathology in the Michigan Medicine Department of Pathology offers grant funding for faculty and trainees to pursue research interests related to anatomic pathology that may not otherwise be funded. One of these internal AP grant-funded projects, led by first-author Eman Abdulfatah, MD and senior-author Rohit Mehra, MD, resulted in a recent cover story in Human Pathology entitled “Extragonadal germ cell tumors: A clinicopathologic study with emphasis on molecular features, clinical outcomes and associated secondary malignancies.”

Extragonadal germ cell tumors (EGCTs) are rare tumors making up less than 5% of all germ cell tumors. While EGCTs share similar morphological and immunohistochemical features with their gonadal counterparts, they tend to be more aggressive and are frequently associated with secondary somatic (acquired) malignancies. This study reviewed 77 EGCTs to better understand the most common anatomical sites for these tumors and if any additional cytogenetic abnormalities were present. They found that the anterior mediastinum, which is the area between your heart and your breastbone, is the most common site. This is followed by the central nervous system, the retroperitoneum (the area behind the abdominal wall that includes kidneys, adrenal glands, ureter, aorta and inferior vena cava, and portions of the colon), the sacroccygeal area (the sacrum and tailbone), and the neck. Nearly all are found in structures along the body’s midline from the brain to the coccyx (tailbone). Somatic tumors, which result from genetic changes that occur in specific cells, were found in 8% of the patients and 8 patients (10.3%) experienced disease progression, with metastasis and/or recurrence, most of whom died from their relapse. Additional cytogenetic abnormalities included the presence of gain of chr 21 in 37% of tumors.

 This study corroborated that somatic-type malignancies are frequently encountered with mediastinal EGCTs and that their presence portends a poorer prognosis. Additional research is needed to find better treatments and cures for these tumors.

Citation:

Eman Abdulfatah, Noah A. Brown, Matthew S. Davenport, Zachery R. Reichert, Sandra Camelo-Piragua, Amer Heider, Tao Huang, Ulka N. Vaishampayan, Stephanie L. Skala, Jeffrey S. Montgomery, Arul M. Chinnaiyan, Samuel D. Kaffenberger, Pushpinder Bawa, Lina Shao, Rohit Mehra. Extragonadal germ cell tumors: A clinicopathologic study with emphasis on molecular features, clinical outcomes and associated secondary malignancies. Human Pathology (2024) 148:41-50. https://doi.org/10.1016/j.humpath.2024.04.015.