Ovarian germ cell tumors (OGCTs) show a heterogeneity that is not seen in their testicular counterparts and include benign mature cystic teratomas, intermediate immature teratomas, malignant germ cell tumors [GCTs (dysgerminomas, endodermal sinus tumors, and mixed GCTs)], and GCTs arising in dysgenetic gonads of 46,XY individuals. Comparative genomic hybridization was used to analyze 27 OGCTs for regions of relative gain or loss. The analysis of 21 malignant OGCTs (12 dysgerminomas, 6 endodermal sinus tumors, and 3 mixed GCTs) demonstrated genetic alterations similar to those reported in adult testicular GCTs. The most common regions gained include chromosomes 12p (16 of 21 tumors), 21 (10 of 21 tumors), 8 (8 of 21 tumors), and 1q (6 of 21 tumors). The most common region lost was chromosome 13. Regions of high-level gain were identified at 12p11-12 and 4q11. The profile of gains and losses was similar in the different histological subtypes within this category. One tumor presented in a 46,XY patient; this tumor was diploid and showed a gain of 12p. Immature teratomas (six cases) showed only one case with an abnormality, which was a gain of chromosome 14. We conclude that malignant OGCTs are genetically similar to those found in the adult testis; however, immature teratomas show no consistent gains or losses and are therefore different from those presenting in the adult testis. A review of the literature suggests that genetic abnormalities in this group may herald a worse prognosis. Lastly, OGCTs in dysgenetic gonads arise in a diploid rather than a tetraploid cell line, yet they also show a gain of 12p.

https://cancerres.aacrjournals.org/content/canres/58/14/3105.full.pdf

Genetic analysis of ovarian germ cell tumors by comparative genomic hybridization.

Germ cell tumors of the mediastinum

Germ cell tumor (GCT)-associated hematologic malignancies present a unique challenge to hematologists and hematopathologists. As most GCTs are of gonadal origin, only a small percentage occur at extragonadal sites in the midline. Extragonadal GCTs are believed to originate from the ectopic primordial germ cells that fail to migrate to the urogenital ridge during development. An overactive KIT pathway and overexpression of genes on chromosome 12p are strongly implicated in GCT development. Approximately 54% of extragonadal GCTs are located in the anterior mediastinum. This is disproportionally high among the midline structures, presumably due to a favorable microenvironment for GCT development in the developing thymus. The mediastinal nonseminomatous GCTs have two unique features. First, they are often refractory to current treatment modality with the worst prognosis among GCTs of all sites. Second, they have a tendency to give rise to secondary hematologic neoplasia. The outcome is grave for patients with GCT-associated hematologic malignancies. As standard chemotherapy used to treat their bone marrow-derived counterparts has been ineffective, the best treatment modality to achieve long-term survival is allogeneic hematopoietic stem cell or cord blood transplant for a very limited number of cases.

Hematologic malignancies associated with germ cell tumors

In November 2006, a 28-year-old male presented with a 3-week history of pleuritic chest pain. Computed tomography (CT) scan demonstrated a 10.411.2-cm right-sided anterior mediastinal mass (Fig 1). Positron emission tomography/CT revealed [F]fluorodeoxyglucose (FDG) maximum standard uptake value (SUVmax, 16.8) in the mediastinum. A CT-guided biopsy revealed a poorly differentiated malignancy with elements of yolk sac components. A few clusters of mature–appearing nucleated RBCs as well as occasional aggregates of poorly differentiated, immature appearing myeloid precursors were seen (Fig 2). Serum beta human chorionic gonadotropin was 82 /mL ( 4 /mL), alpha-feto protein was 10,632 ng/nL ( 8.5 ng/nL) and lactate dehydrogenase was 731 U/L (normal range, 100 to 238 U/L). Testicular ultrasound was unremarkable. A diagnosis of primary mediastinal germ cell tumor (PMGCT) was made. After four cycles of standard cisplatin, etoposide, and bleomycin chemotherapy, the tumor markers returned to normal levels. Although a follow-up positron emission tomography/CT scan showed a decrease in FDG uptake (SUVmax of 8.9), the CT scan did not show significant regression in the size of the mediastinal tumor. The patient underwent resection of the mediastinal tumor with negative surgical margins at Indiana University (Indianapolis, IN) approximately 2 months after the completion of chemotherapy. The pathology of the tumor revealed elements of teratoma with highly atypical stromal elements. Immunohistochemistry performed on the resected mediastinal tumor did not reveal any convincing evidence of precursor hematopoietic elements. Approximately 10 months after surgery, the patient noticed intermittent midback pain. He then developed acute onset of lower extremity motor and sensory deficits. A magnetic resonance imaging scan showed an enhancing extraduralextramedullary mass (4.9 1.1 cm in sagittal sequence) at T7 through T9 in a right anterolateral location (Fig 3) with significant cord compression. The patient underwent an emergent laminectomy with tumor resection that resulted in incomplete but meaningful recovery of neurological function. The histologic examination of the paraspinal mass revealed poorly differentiated malignant cells associated with numerous multinucleated giant cells resembling abnormal megakaryocytes (Fig 4). Immunohistochemical analysis was performed. The megakaryocytic marker CD42b showed diffuse positivity in the malignant cells (Fig 5). These cells were also positive for CD45RB (leukocyte common antigen), CD43 (Fig 6), CD31, and CD61, the latter also being a megakaryocyte-associated antigen. Additional myeloid markers which included CD117, CD68 (KP-1, PG-M1, CD163), myeloperoxidase, and lysozyme were negative. The lymphoid-associated markers CD20, CD3, CD30 (also germ cell tumor–associated), CD2, CD5, CD79a, and PAX-5 were negative. The germinal cell tumor–associated markers CK7, CK20, PLAP, AFP, beta-HCG, pancytokeratin, and synaptophysin were also negative. The immunohistological profile in conjunction with morphology was consistent with a diagnosis of extramedullary acute megakaryoblastic leukemia. The T-cell receptor–gamma and immunoglobin H gene rearrangement analysis showed no evidence of clonal rearrangements, ruling out lymphoma. Fluorescence in situ hybridization for the presence of isochromosome 12p was negative. The complete blood count and peripheral smear were unremarkable. The bone marrow biopsy was also unremarkable. The patient received radiation therapy to the spine encompassing T5 to T11. Two months after spinal radiation, the patient presented to the hospital with an episode of seizures. Magnetic resonance imaging of the spine and brain suggested leptomeningeal Fig 1. Fig 2. JOURNAL OF CLINICAL ONCOLOGY D I A G N O S I S I N O N C O L O G Y VOLUME 26 NUMBER 28 OCTOBER 1 2008

Primary mediastinal germ cell tumor evolving into an extramedullary acute megakaryoblastic leukemia causing cord compression.

Since 1985, the biological association of mediastinal germ cell tumors and certain hematologic malignancies has been recognized. Continued investigation of such patients and new cytogenetic information brings additional insights into the clinical aspects of this syndrome as well as hinting at the possible etiology. This syndrome only occurs in patients with non-seminomatous germ cell tumors arising within the mediastinum. The interval from the diagnosis of the germ cell tumor to the development of the hematologic malignancy is brief (usually less than 6 months). Careful characterization of the hematologic malignancies in this patient population suggests a predominance of abnormalities within the megakaryocytic lineage. Recent cytogenetic analysis in one patient identified the most common abnormality of germ cell cancers, isochromosome 12p, in the mediastinal germ cell tumor as well as in the subsequent leukemic blasts. i12p is not a cytogenetic abnormality associated with the development of leukemia. The ...

Malignant Hematologic Disorders Arising from Mediastinal Germ Cell Tumors. A Review of Clinical and Biologic Features

The association between mediastinal teratoma and acute megakaryoblastic leukemia (AMKL) in a 15-year-old boy is described. The clinical course is compared with 20 previously reported cases of AMKL in children. Chromosome studies at diagnosis of the leukemia showed multiple leukemic stem lines with numerical and structural abnormalities.

Mediastinal teratoma and acute megakaryoblastic leukemia.

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Mediastinal teratoma and acute megakaryoblastic leukemia.