Germ Cell Tumor Markers Research Articles

Abnormalities of 2q: A common genetic link between rhabdomyosarcoma and hepatoblastoma?

Cytogenetic and restriction fragment length polymorphism (RFLP) analyses were performed on a mediastinal germ cell tumor comprising distinct teratoma and embryonal rhabdomyosarcoma components in a 31-year-old male and a hepatoblastoma in a 2 month-old male child. Clonal relationship between the teratoma and rhabdomyosarcoma of the germ cell tumor was established by the presence in both of i(12p), the characteristic marker of germ cell tumors. Both the rhabdomyosarcoma component of the mediastinal germ cell tumor and the hepatoblastoma exhibited rearrangements of 2q. These data suggest that malignant differentiation of a teratoma is accompanied by the development of chromosome abnormalities specific for the transformed histology and further suggest that 2q abnormalities may be the common genetic link in the development of the two histologically unrelated tumor types, embryonal rhabdomyosarcoma and hepatoblastoma.

Isochromosome of Chromosome 12: Clinically Useful Marker for Male Germ Cell Tumors

Isochromosome of Chromosome 12: Clinically Useful Marker for Male Germ Cell Tumors

Cytogenetics of carcinoma in situ of the testis

Carcinoma in situ (CIS) of the testis is the precursor lesion of most testicular germ cell tumors (TGCTs). Karyotyping of CIS is important for a better understanding of the pathogenesis of TGCTs and the progression to invasive cancer. We karyotyped three cases of CIS. All three cases showed a numerical abnormal chromosomal pattern. In one case, two copies of the germ cell tumor marker i(12p) were found.

Cytogenetic and Immunohistochemical Evidence for the Germ Cell Origin of a Subset of Acute Leukemias Associated With Mediastinal Germ Cell Tumors

Most acute leukemias occurring in patients with mediastinal germ cell tumors (MGCTs) appear to be primary rather than therapy-related; however, no data have been obtained to date to confirm the hypothesized germ cell origin of the leukemias in this syndrome. We identified six male patients with this syndrome treated at Memorial Sloan-Kettering Cancer Center: in all six, the leukemia was studied immunohistochemically for various hematologic and germ cell antigens; in four, the karyotype of the leukemia was available; in one, the MGCT had also been karyotyped. In three patients, we found evidence of a germ cell origin of the acute leukemias. A 19-year-old male developed an acute myeloblastic leukemia 11 months after presenting with an MGCT; karyotypes of the two tumors showed them to be clonally related, both showing an i(12p), a cytogenetic marker of germ cell tumors. A 16-year-old male with probable Klinefelter's syndrome presented simultaneously with acute monocytic leukemia and an MGCT; although the MGCT was not karyotyped, the leukemia showed an i(12p). A 23-year-old male developed concurrently an MGCT and acute myelomonocytic leukemia; the leukemia cells coexpressed myelomonocytic antigens (HAM56, My4, My9) and cytokeratin, suggesting dual differentiation, myeloid and germ cell. Evidence for a germ cell origin of the acute leukemias in the three other patients was not obtained, although in all three the MGCT and the leukemia occurred simultaneously, supporting an etiologic relationship. Hence, these leukemias may represent another form of non-germ cell malignancy developing in germ cell tumors. All patients died of the leukemia, with a median survival of less than 2 months. This syndrome may be a useful pathologic model for the study of germ cell differentiation and hematopoietic ontogeny.

Karyotyping and DNA flow cytometry of metastatic ovarian yolk sac tumor

We karyotyped a metastasis composed of pure yolk sac tumor derived from a primary ovarian germ cell tumor with two components: a dermoid cyst [DNA index (DI) 1.0] and a pure yolk sac tumor (DI 1.88). The metastatic yolk sac tumor had a hypertriploid karyotype and a DI of 1.78 and lacked the germ cell tumor marker i(12p). The absence of this marker in a metastasis from a tumor with a dermoid cyst component might be indicative for a pathogenesis of the yolk sac tumor similar to that of a dermoid cyst and different from that of dysgerminoma.

Isochromosome of Chromosome 12: Clinically Useful Marker for Male Germ Cell Tumors

Twenty-nine tumor specimens were obtained from 24 males with germ cell tumors. All primary sites and histologies were represented. An isochromosome of the short arm of chromosome 12 [i (12p)] was found in 20 specimens obtained from 16 patients, a 46,XY normal karyotype was present in seven specimens, and one specimen was a cytogenetic failure. The i(12p) was found in tumors from all primary sites and in all histologies, including a choriocarcinoma. The presence of three or more additional copies of 12p was associated with a statistically significant greater likelihood of treatment failure. With diagnostic and possibly prognostic importance in germ cell tumors in males, the high frequency of i(12p) in our series of studies and in those of others indicates that it probably occurs as a very early defect in the development of these tumors. Further studies of chromosome 12 in males with these tumors are warranted.

A malignant mixed gonadal stromal tumor of the testis with heterologous components and i(12p) in one of its metastases

A malignant mixed gonadal stromal tumor with mesenchymal heterologous elements of the testis is presented. This entity has been described in the ovary, but not hitherto in the testis. Karyotyping and ploidy measurement was done of the primary tumor and of an inguinal and lung metastases. The DNA ploidy and modal chromosome numbers were in agreement with each other in all samples. The most significant cytogenetic finding was the presence of the metacentric germ cell tumor marker i(12p) in an inguinal metastasis. This marker has been demonstrated in testicular and ovarian germ cell tumors and in a mixed Müllerian tumor, which raises the question of a possible relationship between the pluripotency of these tumors and the presence of i(12p).

Pros and cons of gynecologic tumor markers

The use of a tumor marker not only depends upon its sensitivity and specificity, but also upon its ability to influence decisions between alternative plans for patient management. Use of beta human chorionic gonadotropin (hCG) for monitoring gestational trophoblastic neoplasia has set the standard to which other assays must be compared. Beta hCG and alphafetoprotein have provided useful markers for ovarian germ cell tumors. Recently, a monoclonal antibody-based immunoassay for CA 125 antigen has been used to monitor the treatment of epithelial ovarian carcinomas. Persistent elevation of CA 125 in serum has generally reflected persistence of disease at second look surveillance procedures. CA 125 levels can, however, return to within normal limits and residual disease can be found at laparoscopy or laparotomy. CA 125 shows promise for distinguishing benign from malignant pelvic masses. Trials are currently underway to evaluate the potential of CA 125 in combination with other markers to facilitate earlier detection of occult ovarian cancer.

Monoclonal antibodies against human germ cell tumors: usefulness as tumor markers and differentiation markers.

AbstractEstablishment of monoclonal antibodies against human germ cell tumors which detected cell surface antigens, 2A2 and 2G10 (subclass; IgM) are described. Distributions of these antigens in human tumors were studied immunohisto‐chemically. They were expressed on immature endodermal components often seen in yolk sac tumors but not on the other solid tumors in childhood. Regarding their specificities on human germ cell tumor, we have established an ELISA system to detect these antigens from patient's sera. In normal and fetal tissue, on the other hand, they showed quite different distributions. In the kidney, for example, 2A2 and 2G10 were present on collecting tubules and proximal/distal tubules respectively which were already observed in fetal kidney, gestational ages 10 weeks. These results indicate the usefulness of these antibodies as the markers for human germ cell tumors and also for somatic cell differentiation.

The value of cancer antigen-125 as a tumor marker in malignant germ cell tumors of the ovary

The value of cancer antigen-125 (CA-125) as a tumor marker for malignant germ cell tumors (MGCT) of the ovary was investigated and compared with the other recognized tumor markers (human chorionic gonadotrophin (hCG), alpha-fetoprotein (AFP), carcinoembryonic antigen (CEA)) and lactate dehydrogenase (LDH) isoenzymes. In the 10 months following June 1984, 4 new cases with MGCT and 1 patient with active disease on treatment were evaluated. In all cases prior to planned surgery the levels of CA-125 were significantly elevated. The serum values ranged from 154 to 617 U/ml (normal < 20 U/ml). In 1 case (pure dysgerminoma) CA-125 was the only tumor marker. In 3 patients (2 mixed germ cell tumors and 1 immature teratoma) serum LDH (LD 1, 2, and 3) was elevated, and AFP was elevated in 1 of these. In the fifth case (mixed germ cell tumor), on treatment, serum AFP was used to monitor the disease. Four patients underwent cytoreductive surgery followed by combination chemotherapy. The changes in the serum levels of CA-125 paralleled those of the other tumor markers while on therapy. In our experience CA-125 is an invaluable indicator of the clinical status of the patient and could be a new tumor marker in patients with MGCT.

The value of surveillance testing in childhood brain tumors.

Follow-up procedures in children with brain tumors are designed to confirm tumor response to initial therapy, identify recurrence or progression at the time of potential secondary treatment, and establish the patterns of failure. Serial use of neurologic examinations and computerized tomography scans are outlined for all tumor types. Tumors capable of subarachnoid metastasis (medulloblastoma, ependymomas, pineal/suprasellar germ cell tumors, and pineoblastoma) require periodic assessment of the neuraxis by cerebrospinal fluid (CSF) cytology and myelography to establish the frequency of subclinical meningeal seeding in study settings. Serial analysis of specific biochemical markers for medulloblastoma (CSF polyamines) and germ cell tumors (serum and CSF alpha-fetoprotein and beta-human chorionic gonadotropin) are suggested. Serial evoked potentials in brain stem gliomas are recommended.

Lactate dehydrogenase and its isoenzyme, LDH-1, in serum are markers of testicular germ cell tumors.

Journal Article Lactate dehydrogenase and its isoenzyme, LDH-1, in serum are markers of testicular germ cell tumors. Get access F E von Eyben, F E von Eyben Search for other works by this author on: Oxford Academic Google Scholar G Skude G Skude Search for other works by this author on: Oxford Academic Google Scholar Clinical Chemistry, Volume 30, Issue 2, 1 February 1984, Pages 340–341, https://doi.org/10.1093/clinchem/30.2.340 Published: 01 February 1984

Detection of an early pregnancy factor-like substance in sera of patients with testicular germ cell tumors.

Early pregnancy factor (EPF) is produced by both maternal and fetal tissue1,2 and has been detected previously only during pregnancy.3,4 The present report describes the detection of EPF, or an EPF-like substance (tEPF), in serum from patients with germ cell tumors of the testis. tEPF, or its free components, tEPF-A and tEPF-B, were detected in all 11 patients with nonseminomatous tumors and in 5 of 10 patients with seminoma. It was not detected in serum from healthy male controls nor in patients with non-germ cell tumors or benign testicular disease. It is suggested that tEPF may be an additional serum marker for germ cell tumors and may expand the group already detectable by such markers.