Abstract
The association between mediastinal germ cell tumors (MGCT) and acute megakaryoblastic (M7) leukemia has been known for many years. We hereby present this review to better characterize the coexistence of these entities as well as the salient features, the treatment options, and the overall prognosis. A search of PUBMED, Medline, and EMBASE databases via OVID engine for primary articles and case reports under keywords “germ cell tumors” and “acute myeloid leukemia” revealed a total of 26 cases in English that reported MGCT and M7 leukemia. The median age at diagnosis of MGCT was 24 (13–36) years. All cases were stage III. All cases of MGCT were of non-seminomatous origin and one case was unclassified. MGCT occurred prior to the diagnosis of leukemia in 46% of cases and concomitantly in 31% of cases. M7 leukemia was never reported prior to the appearance of MGCT. Complex cytogenetics and hyperdiploidy were the most commonly reported cytogenetic abnormalities. In the 23 cases where the treatment regimen was available, platinum-based chemotherapy directed towards management of the germ cell tumors was used initially in 21 cases and leukemia-directed treatment was used initially in 2 cases only. The median time from diagnosis of MGCT to development of M7 leukemia was 5 (2.25–39) months. Median time to death from the initial diagnosis of MGCT was 6 (0.5–60) months. Patients with a history of MGCT are at higher risk of developing M7 leukemia. They need long-term follow-up with a particular attention to the development of hematological malignancies. The overall prognosis remains poor.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
DeMent SH, Eggleston JC, Spivak JL (1985) Association between mediastinal germ cell tumors and hematologic malignancies. Report of two cases and review of the literature. Am J Surg Pathol 9(1):23–30
Nichols CR, Hoffman R, Einhorn LH, Williams SD, Wheeler LA, Garnick MB (1985) Hematologic malignancies associated with primary mediastinal germ-cell tumors. Ann Intern med 102(5):603–609
Mihal V, Dusek J, Jarosova M et al (1989) Mediastinal teratoma and acute megakaryoblastic leukemia. Neoplasma 36(6):739–747
Domingo A, Romagosa V, Callis M, Vivancos P, Guionnet N, Soler J (1989) Mediastinal germ cell tumor and acute megakaryoblastic leukemia. Ann Intern Med 111(6):539
Nichols CR, Roth BJ, Heerema N, Griep J, Tricot G (1990) Hematologic neoplasia associated with primary mediastinal germ-cell tumors. N Engl J Med 322(20):1425–1429
Hartmann JT, Nichols CR, Droz JP et al (2000) Hematologic disorders associated with primary mediastinal nonseminomatous germ cell tumors. J Natl Cancer Inst 92(1):54–61
Ladanyi M, Samaniego F, Reuter VE et al (1990) Cytogenetic and immunohistochemical evidence for the germ cell origin of a subset of acute leukemias associated with mediastinal germ cell tumors. J Natl Cancer Inst 82(3):221–227
Orazi A, Neiman RS, Ulbright TM, Heerema NA, John K, Nichols CR (1993) Hematopoietic precursor cells within the yolk sac tumor component are the source of secondary hematopoietic malignancies in patients with mediastinal germ cell tumors. Cancer 71(12):3873–3881
Woodruff K, Wang N, May W, Adrone E, Denny C, Feig SA (1995) The clonal nature of mediastinal germ cell tumors and acute myelogenous leukemia. A case report and review of the literature. Cancer Genet Cytogenet 79(1):25–31
Lu C, Riedell P, Miller CA et al (2016) A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia. Cold Spring Harb Mol Case Stud 2(1):a000687
Mihaljevic B, Sretenovic M, Jancic-Nedeljkov R, Petrovic M (1996) Acute megakaryoblastic leukaemia with mediastinal tumor. Haematologia 27(3):155–158
Garnick MB, Ferry JA (1997) Case 40–1997. A 23-year-old man with a mediastinal embryonal carcinoma and hematologic abnormalities. N Engl J Med 337(26):1904–1912
Kitazume K, Usuki K, Endo M et al (1998) Mediastinal germ-cell tumor associated with AML (M7)--the syndrome of mediastinal germ-cell tumors associated with hematologic neoplasia? [Rinsho ketsueki] The Japanese journal of clinical hematology 39(9):686–691
Dopico Vazquez D, Gallegos Sancho MI, Alonso Curbera G, Carral Maseda A, Quindos Varela M, Anton Aparicio LM (2007) Non-seminomatous germ-cell tumour associated with acute megakaryoblastic leukaemia. Clin Transl Oncol 9(5):329–331
Ikdahl T, Josefsen D, Jakobsen E, Delabie J, Fossa SD (2008) Concurrent mediastinal germ-cell tumour and haematological malignancy: case report and short review of literature. Acta Oncol 47(3):466–469
Hiramatsu H, Morishima T, Nakanishi H et al (2008) Successful treatment of a patient with Klinefelter’s syndrome complicated by mediastinal germ cell tumor and AML (M7). Bone Marrow Transplant 41(10):907–908
Brahmanday GR, Gheorghe G, Jaiyesimi IA et al (2008) Primary mediastinal germ cell tumor evolving into an extramedullary acute megakaryoblastic leukemia causing cord compression. J Clin Oncol 26(28):4686–4688
Yu N, Kim HR, Cha YJ, Park EK, Kim JW (2011) Development of acute megakaryoblastic leukemia with isochromosome (12p) after a primary mediastinal germ cell tumor in Korea. J Korean Med Sci 26(8):1099–1102
Kassim Y, Penther D, Schneider P, Callat MP, Bastard C, Vannier JP (2012) Malignant transformations in a patient with a mediastinal germ cell tumour: lack of efficacy of bone marrow transplantation after chemotherapy on tumour recurrence. BMJ Case Rep 2012
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Rights and permissions
About this article
Cite this article
Mukherjee, S., Ibrahimi, S., John, S. et al. Non-seminomatous mediastinal germ cell tumor and acute megakaryoblastic leukemia. Ann Hematol 96, 1435–1439 (2017). https://doi.org/10.1007/s00277-017-3037-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-017-3037-3