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Context.—: Gestational choriocarcinoma usually presents during the reproductive years, typically within 1 year of pregnancy, although presentation remote from pregnancy also occurs and may cause confusion with other tumors, including choriocarcinoma of germ cell origin and somatic carcinomas with choriocarcinomatous differentiation. It is important to separate these tumors for treatment and prognostic reasons., Objective.—: To assess the utility of fluorescence in situ hybridization for the X and Y chromosome centromeres in determining the gestational origin of clinically ambiguous extrauterine choriocarcinomas in women., Design.—: A review of female patients with extrauterine choriocarcinomas who had no evidence of prior gestational trophoblastic disease was performed. Samples were analyzed by fluorescence in situ hybridization for the X and Y chromosome centromeres using standard methodologies., Results.—: Five cases met the criteria, all of which displayed trophoblastic cells and necrosis. Three cases (60%) had Y chromosomes by fluorescence in situ hybridization, which confirmed gestational origin. Although the 2 cases without a Y chromosome would ordinarily require molecular genotyping for paternal genetic material to establish gestational origin, in one of these cases a subsequent recurrence of yolk sac tumor allowed confirmation of its mediastinal origin., Conclusions.—: Fluorescence in situ hybridization for detection of the X and Y chromosome centromeres is an effective screening test for gestational choriocarcinoma. It provided a definitive diagnosis of metastatic gestational choriocarcinoma in 3 of 5 potential cases that lacked a clinical history of gestational trophoblastic disease. An additional benefit is that more laboratories have the capability to perform fluorescence in situ hybridization than can perform molecular genotyping for definitive diagnosis., (© 2020 College of American Pathologists.)

Choriocarcinoma (CC) is the rarest but most aggressive histological component of adult testicular germ cell tumor (TGCT). Although we previously reported a putative role of epidermal growth factor receptor (EGFR) alterations in the progression of CC, little is known about the kinase-activating mutation status of EGFR, which predicts the response to EGFR-tyrosine kinase inhibitors. In this study, we clinicopathologically reviewed a total of 12 cases of mixed TGCTs with CC components. Immunohistochemistry, fluorescence in situ hybridization, and direct sequencing was performed to investigate EGFR expression, EGFR copy number alterations, and functional mutation of EGFR in these CC components, respectively. Four (33%) of 12 cases exhibited predominant CC components (>50%), and all these patients died due to disease within 62 months. Overexpression of EGFR, higher copy number of EGFR, and amplification of EGFR was observed in 12 (100%), 10 (83%), and 9 (75%) of 12 CC components, respectively. None of the cases showed any mutational events in exons 18 to 24, which encode the tyrosine kinase domain of EGFR. These results confirm an important role of EGFR in the tumor aggressiveness of testicular CCs and may suggest its possible innate resistance against conventional anti-EGFR therapies., (© 2020 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.)

Trophoblastic neoplasms involving the ovary are uncommon and include gestational tumors, which are either metastatic from the uterus or ectopic and nongestational tumors, which include those of germ cell type/origin and somatic tumors with trophoblastic differentiation; in all these types, most are pure choriocarcinoma. Intermediate trophoblastic tumors, which include placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT), are rare in the ovary, with most assumed to be gestational; this is the only category formally recognized in 2014 World Health Organization (WHO) classification, likely due to few well-documented nongestational examples. We report the clinicopathologic features of 6 ovarian intermediate trophoblastic tumors, including 3 PSTTs, 2 ETTs, and 1 ETT with choriocarcinomatous differentiation. DNA-based short tandem repeat genotyping identified 4 of these as nongestational (3 PSTTs and 1 ETT), as evidenced by sharing of alleles between tumor and normal tissue at all informative loci. Interestingly, all 3 of the nongestational PSTTs coexisted with mature cystic teratoma. The remaining 2 tumors (1 ETT and 1 ETT with some choriocarcinomatous differentiation) were gestational (likely ectopic due to lack of evidence of a uterine tumor), as evidenced by the presence of both maternal and novel/nonmaternal alleles at informative loci in tumor compared with normal tissue. It is important to recognize a distinct category of primary ovarian nongestational intermediate trophoblastic tumors of germ cell type/origin, including PSTT and ETT, in classification systems to guide clinical management, as gestational and nongestational tumors have different genetic origins and may require different therapy. Genotyping is useful for classification as nongestational versus gestational, particularly as traditional clinicopathologic findings cannot always predict the nature of a trophoblastic tumor.

Background: Choriocarcinoma is a highly aggressive, malignant trophoblastic neoplasm that can be gestational or non-gestational in origin. Accurate discrimination between these two subtypes, the causative pregnancy type, and the pregnancy-to-treatment interval for gestational choriocarcinoma are vital for clinical management., Methods: Fifteen choriocarcinomas were genotyped using multiplex fluorescent polymerase chain reaction amplification of 15 short tandem repeat (STR) loci and the amelogenin locus (XY determination). Genotype patterns at each locus from tumoral and maternal tissues were compared, and any prior or concurrent mole/placenta was also compared when available. According to STR results showing the presence or absence of the paternal chromosomal complement, the gestational or non-gestational origin of the tumor and the nature of the causative pregnancy was identified., Results: Fourteen tumors were gestational. Of these, seven were androgenetic/homozygous XX, and two were androgenetic/heterozygous XX, indicating that the causative pregnancies were molar pregnancies. Among the nine molar pregnancies, five were of the occult type. A menopausal patient developed a tumor from a mole that occurred seven years ago, identified by the genetically identical allele from the tumor and prior mole. One tumor originating from a previous mole was interrupted by term delivery. Two tumors found eight weeks postpartum were identified as originating from a prior occult mole. A pelvic choriocarcinoma was separated from a genetically distinct third trimester intrauterine placenta. Five gestational tumors were biparental: 2 XX, 3 XY. Of three ovarian tumors, two were confirmed gestational (1 androgenetic/homozygous XX; 1 biparental XY), and one was an ovarian tumor (XX) with a complete match of the genotype for all 15 loci, therefore ascertaining its non-gestational origin., Conclusion: Gestational choriocarcinoma can originate in an androgenetic or biparental manner. The majority are androgenetic/homozygous XX, while a large number of them might be occult molar pregnancies. The origin of ectopic androgenetic choriocarcinoma with concurrent intrauterine placenta might be from either dispermic twin gestation (mole and coexistent nonmolar fetus) or an antecedent molar pregnancy. Choriocarcinoma shortly postpartum might not be associated with the last placenta. STR analysis can be useful in distinguishing gestational choriocarcinoma from non-gestational, as well as the causative pregnancy, and serve as a helpful examination tool for guiding clinical management.

In 2016, the WHO classification of testicular germ cell tumors was revised considering advances in the understanding of their tumorigenesis and molecular features. This restructuring led to a division into two major groups with, on one hand, prepubertal-type tumors, not derived from germ cell neoplasia in situ (GCNIS), and on the other hand, postpubertal-type tumors, GCNIS-derived, which occur in youg men (seminoma and non seminomatous germ cell tumors - embryonal carcinoma, yolk sac tumor, teratoma and choriocarcinoma essentially). The term germ cell neoplasia in situ is consensually accepted as a new terminology for the precursor lesion. In this new classification, the term "spermatocytic seminoma" is replaced by "spermatocytic tumor", reclassified among non-GCNIS-derived tumors. The purpose of this change of nomenclature is to reflect the usually non-aggressive behaviour of this tumor and to avoid any confusion with usual seminoma. The spectrum of trophoblastic tumors continues to expand with the description of new rare entities such as the cystic trophoblastic tumor, the placental site trophoblastic tumor and the epithelioid trophoblastic tumor. This review aims to provide a focus on testicular germ cell tumors highlighting the new immunohistochemical and molecular features responsible for the restructuring of classification. The TNM staging is presented according to the AJCC 8th edition 2017 update., (Copyright © 2019 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Rationale: Rare uterine choriocarcinoma can be differentiated gestational from nongestational choriocarcinoma by using short tandem repeats (STRs)., Patient Concerns: A 56-year-old Taiwanese woman underwent staging surgery because of suspicion of high-grade endometrial cancer. The pathology-confirmed uterine tumor with syncytiotrophoblasts and decidual change of the endometrium was harvested., Diagnosis: Uterine nongestational choriocarcinoma., Interventions: The tumor specimen, the patient's blood, and her husband's blood were drawn for STRs analysis using polymerase chain reaction amplification kit. The genotype of the tumor cells was solely maternal and made the diagnosis of uterine nongestational choriocarcinoma., Outcome: Adjuvant chemotherapy with etoposide, methotrexate, actinomycin D, cyclophosphamide, vincristine regimen achieved good response in the patient. The patient is now recurrence-free for 12 months., Lessons: STRs aid precise classification of rare choriocarcinoma. We encourage using the method to analyze suspicious choriocarcinoma.

Choriocarcinoma is an uncommon malignant neoplasm, which can be either gestational or nongestational in origin. Distinction of these subtypes has prognostic and therapeutic implications. Twenty-two tumors were genotyped using polymerase chain reaction amplification of 15 short tandem repeat loci and the amelogenin locus (XY determination). DNA patterns from tumor and maternal tissue, as well as villous tissue from any available prior or concurrent gestation, were compared, to determine gestational versus nongestational nature (containing vs. lacking a paternal chromosome complement, respectively) and the relationship between the tumor and any prior or concurrent gestation. Nineteen tumors were gestational. Of these, 14 were purely androgenetic/homozygous XX: 6 uterine tumors with a concurrent or prior genetically related complete hydatidiform mole (CHM), 4 uterine tumors without an accompanying villous component, 1 uterine cornual tumor separate from a genetically distinct second trimester intrauterine placenta, 1 ectopic ovarian tumor separate from a genetically distinct third trimester intrauterine placenta, and 2 ectopic fallopian tube tumors. Five gestational tumors were biparental: 3 (2 XX, 1 XY) intraplacental choriocarcinomas genetically related to the placenta and 2 uterine tumors without accompanying placental tissue after term deliveries (1 XX 4 weeks postpartum and 1 XYY with allelic imbalances 1 year postpartum; prior placentas not available for analysis). Three tumors were nongestational: all XX with allelic imbalances; 2 ovarian, 1 pelvic. Gestational choriocarcinoma can be androgenetic or biparental. Most are androgenetic/homozygous XX, often associated with a genetically related concurrent or prior CHM, and thus of molar-associated type. These findings support that homozygous XX CHMs are associated with some risk of significant gestational trophoblastic disease. Intraplacental choriocarcinomas are biparental and genetically related to the placenta. Biparental choriocarcinoma detected in a postpartum uterine sample is consistent with undetected intraplacental choriocarcinoma. Eutopic or ectopic androgenetic choriocarcinoma separate from a concurrent intrauterine placenta is not derived from intraplacental tumor and is consistent with either a form of dispermic twin gestation (molar-type choriocarcinoma and coexistent nonmolar fetus) or origin from an antecedent molar pregnancy. While fallopian tube tumors are usually gestational, tumors in other sites (ovary, pelvis) can be nongestational and should not be assumed to be metastatic from a regressed or occult intrauterine or intraplacental gestational tumor.

Primary choriocarcinoma of the urinary bladder is a rare entity, and should be distinguished from urothelial carcinoma with trophoblastic differentiation. The leading treatment modalities include surgical extirpation, chemotherapy, and radiation; however, survival remains poor. Herein we describe a rare case of choriocarcinoma of the bladder in a man who presented for evaluation with hematuria and subsequently underwent radical cystectomy with urinary diversion. Diagnosis of extragonadal germ cell tumor was confirmed using fluorescence in situ hybridization identification of isochromosome 12p., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Introduction: Gestational (GC) (derived from the placenta) and non-gestational (NGC) choriocarcinomas are trophoblastic diseases originated from abnormal proliferation of trophoblastic cells. These rare tumors share similar morphology and pathological features and differ on chemotherapy response, genetic origin and prognosis. In this study, the genomic profile of choriocarcinomas was performed according to their origin (GC or NGC) aiming to better understand these poorly characterized diseases., Methods: Thirteen patients were included in this study; 10 presented previous history of hydatidiform mole and six developed metastasis. Twelve polymorphic microsatellite markers (D15S659, APOC2, D5S816, BAT25, D3S1614, D3S1311, D1S1656, APC-D5S346, D3S1601, D18S70, D8S1110 and D11S1999) were investigated to distinguish GC from NGC. All choriocarcinomas were evaluated by copy number alterations using array CGH., Results: Eight cases were classified as GC and five as NGC. Although potentially polymorphic, NGC exhibited significant gain of 21p11. Rare copy number alterations (CNA) were detected as a frequent event in GC including gains of 1p36.33-p36.32 (3 cases), 17q25.3 (4 cases), and losses of 9q33.1 (5 cases), 17q21.3 (3 cases) and 18q22.1 (4 cases) (varying from 724 to 3,053 Kb)., Discussion: Two tumor suppressor genes are candidates to be involved in GC: TRIM32 (9q33.1) and CDH19 (18q22.1). Gains of CBX2, CBX4 and CBX8 were frequently found in high risk prognostic score in GC. The in silico functional interaction analysis revealed the involvement of PTEN and PI3K-Akt signaling pathways. These data pointed out significant genomic alterations in GC, opening new avenues to better characterize the pathobiology of this disease., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Non-gestational choriocarcinoma (NGCO) is a rare primary ovarian cancer with poor prognosis. It is important to distinguish it from gestational ovarian choriocarcinoma (GCO), because there are different treatment options. However, it is difficult to distinguish the two types by routine histologic, ultrastructural, or immunohistochemical examination. The authors present NGCO in a 41-year-old woman, which was confirmed by DNA polymorphism analysis. All tested microsatellite markers had identical DNA profiles with the same allelic sizes between tumor and normal myometrium of the patient, indicating that both tissues originated from the same person. The results confirmed that the tumor was non-gestational in origin. Although the tumor was large, the authors performed hand- assisted laparoscopic surgical (HALS) staging. After three cycles of combination chemotherapy and surgery, the patient has not had any evidence of disease 48 months after treatment. This case demonstrates the usefulness of HALS staging and DNA polymorphism analysis in NGCO.

Nongestational choriocarcinomas have been observed in the ovaries but rarely the uterus in postmenopausal women. Choriocarcinomas of gestational and nongestational origin have distinct prognoses but cannot be distinguished with routine histologic examination. We report a case of nongestational uterine choriocarcinoma in a 62-year-old Chinese woman that was confirmed with short tandem repeat analysis., (Copyright © 2014 Mosby, Inc. All rights reserved.)

A 22 year-old G1P1 woman presented to the emergency room with clinical impression of "ruptured right adnexal mass" and underwent a right salpingo-oophorectomy to rule out ectopic pregnancy. Instead, gross and microscopic examination revealed a pure choriocarcinoma involving the right fallopian tube and broad ligament. On the basis of the patient's age, recent history of delivery, last menstrual period for 10 weeks, large tumor mass, and possible pelvic lymph node metastasis, the patient promptly started to receive 8 cycles of multiagent chemotherapy regimen with a working diagnosis of high-risk gestational choriocarcinoma. Subsequent DNA genotyping analysis showed that the tumor cells had an identical genetic profile to that of the normal tissue of the patient, therefore establishing a final diagnosis of nongestational choriocarcinoma. Six months after the initial presentation, a second surgery was performed to remove a persistent right para-adnexal mass, which showed only necrotic tissue upon microscopic examination. The patient received 1 additional cycle of multiagent chemotherapy. She was alive without evidence of recurrence 26 months after the initial diagnosis.

Choriocarcinoma is a highly malignant tumor of trophoblastic origin. Most cases occur in association with preceding gestational events. However, on very rare occasions, nongestational choriocarcinoma arises from germ cell or trophoblastic differentiation in different types of carcinoma. This article reports the case of a 58-year-old woman with primary nongestational choriocarcinoma of the uterus that developed 19 years after her final pregnancy and 4 years after menopause. A total abdominal hysterectomy and bilateral salpingo-oophorectomy was performed. Histopathological examination showed choriocarcinoma of the uterus without components of other germ cell tumors. Karyotype analysis of the tumor cells demonstrated XX. We confirmed its nongestational origin by DNA polymorphism analysis at 15 short tandem repeat loci. After surgery, the patient was given four courses of combination chemotherapy. She is still alive and there has been no evidence of recurrence 3 years after surgery.

Non-gestational ovarian choriocarcinoma (NGCO) is an extremely rare malignant tumor with a poor prognosis and is difficult to distinguish from gestational choriocarcinoma. True hermaphrodite (TH) is genetically a heterogenous condition causing ovarian and testicular tissue development in the same individual. We report here the first case of pure NGCO in the right ovotestis of a 23-year-old 45,XO/46X,X sex-determining region Y chromosome (SRY)-negative TH. The diagnosis of non-gestational origin was confirmed by testing five short tandem repeats (STR). The patient responded well to radical surgery with bleomycin, etoposide, cisplatin (BEP) regimen. We also hypothesize that some mutations of an X-linked or autosomal gene lead to testicular determination in SRY-negative TH patients., (© 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.)

We report a case of 46,XY pure gonadal dysgenesis (Swyer syndrome) in a phenotypically normal 12-year-old girl with a history of vaginal bleeding and early breast development, with ovarian choriocarcinoma as the first manifestation. The clues leading to the diagnosis included the failure to establish any relationship between normal menstrual cycles postoperatively and a small remaining contralateral ovary. The correct diagnosis is important for cancer prophylaxis and hormonal replacement therapy. Prepubertal and peripubertal girls presenting with gonadal germ cell tumors should be carefully evaluated for the possibility of underlying gonadal dysgenesis. A history of vaginal bleeding or early signs of puberty does not exclude the diagnosis.

Objective: To distinguish choriocarcinoma from gestational or non-gestational choriocarcinoma and also identify the causative pregnancy of gestational choriocarcinoma by the genetic origin through molecular genetic analysis., Methods: Twelve patients with choriocarcinoma, who had experienced surgery prior to chemotherapy were enrolled in this study. All 12 cases were diagnosed pathologically as choriocarcinoma. Peripheral venous blood samples and formalin-fixed paraffin-embedded blocks of choriocarcinoma tissue microdissected from haematoxylin and eosin-stained sections of tissue by microdissection method were available from the patient and (or) her husband. DNA was then prepared from the couples' blood samples and choriocarcinoma tissue by using standard techniques. PCR amplification and fluorescent microsatellite genotyping were performed by using DNA from the couples and captured choriocarcinoma tissues. The genetic contributions to the choriocarcinoma tissue were determined by comparing the fragments of genes from the choriocarcinoma tissue to those from blood samples of the couples., Results: The primary lesion was ovary in 7 cases, but only 4 of them had the maternal contribution, indicating a non-gestational origin; the other three were gestational choriocarcinoma. The primary lesion was uterus in 5 cases, which were all gestational choriocarcinoma confirmed by genetic analyses. The causative pregnancies of the 8 cases with gestational choriocarcinoma were identified as androgenetic complete hydatidiform mole (AnCHM) in six cases and normal pregnancies in two cases, respectively., Conclusion: Microsatellite polymorphism analysis is a molecular approach for distinguishing the non-gestational choriocarcinoma from the gestational one, and also be used to identify the causative pregnancy of gestational choriocarcinoma.

Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 half-sisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad. No SRY mutation, chromosome abnormalities, or mosaicism were detected in blood. Single nucleotide polymorphism (SNP) profiling of the choriocarcinoma revealed a complex hyperdiploid pattern with gains of 1 to 4 copies of material from several autosomes, as well as the loss of the Y chromosome and a homozygous SNP profile without copy number change for the X chromosome. Our results are in agreement with the recurrent chromosome gains and losses previously published in germ cell tumors, and the coexistence of both tumors within the same gonad suggests that choriocarcinomas may derive from gonadoblastomas.

Background: Choriocarcinoma is a highly malignant trophoblastic neoplasm. Most of them are gestational in origin, while non-gestational ones are exceedingly rare. The genetic origin, immunogenicity, sensitivity to chemotherapy and prognosis of these two kinds of conditions are quite different, so identification of these two kinds of choriocarcinoma is of great importance. The objective of this study is to distinguish choriocarcinoma as gestational or non-gestational and identify the causative pregnancy of gestational choriocarcinoma through molecular genetic analysis., Methods: Twelve patients with choriocarcinoma, who had experienced surgery prior to chemotherapy, were enrolled in this study. DNA was prepared from blood samples from the patient and her partner using standard techniques. In order to prepare DNA from choriocarcinoma tissue, areas of choriocarcinoma were firstly microdissected from haematoxylin and eosin-stained sections. PCR amplification and fluorescent microsatellite genotyping were performed using DNA from the couples and captured tissue. The genetic contributions to the choriocarcinoma were determined by comparing the genotypes of the choriocarcinoma and that of the couples., Results: Four of twelve cases had only a maternal contribution, indicating a non-gestational origin. The remaining eight cases were all gestational in origin and the causative pregnancies were identified as AnCHM (androgenetic complete hydatidiform mole) in six and normal pregnancies in two respectively., Conclusion: Microsatellite polymorphism analysis is a molecular approach for distinguishing the non-gestational choriocarcinoma from the gestational one, and can also be used to identify the causative pregnancy of gestational choriocarcinoma. Antecedent pregnancy prior to choriocarcinoma is not always its causative pregnancy. Therefore, it is reasonable to identify the causative pregnancy by its genetic origin, instead of clinical impression.

Objectives: The diagnosis of a gestational trophoblastic tumour (GTT) should be considered in all women presenting with a malignancy and an elevated human chorionic gonadotrophin (hCG) level. Whilst some non-gestational malignancies can also produce hCG, most non-gestational tumours can be distinguished from GTT on the basis of histopathological examination. However, some non-gestational tumours can exhibit trophoblastic differentiation and so make establishing the definitive diagnosis difficult. In these cases, molecular genetic investigation can establish the differential diagnosis between gestational and non-gestational tumours and facilitate optimal management. The objective of this study is to demonstrate the clinical value of distinguishing these two diagnoses by genetic analysis in patient care at a major GTT treatment centre., Methods: Between 1994 and 2005, fluorescent microsatellite genotyping was used to examine the genetic origin of 35 cases of metastatic hCG-producing tumours with trophoblastic differentiation, three cases of atypical uterine tumours, three cases of uterine choriocarcinoma with a very long interval and one atypical ovarian tumour., Results: Of the 42 cases examined, 24 were proved to be of gestational origin, 14 were non-gestational and in 4 cases genetic analysis was inconclusive. We illustrate the clinical value of this diagnostic technique by presenting five individual cases in which molecular genetic results helped determine the appropriate clinical management., Conclusion: Analysis of the genetic origin of atypical hCG-producing tumours in women allows the optimisation of individual patient care and should be considered in the management of these unusual cases.

Nongestational pure choriocarcinoma of the ovary is a very rare germ cell tumor. Except in women before menarche, determination of the origin is very difficult without genetic analysis. We present a pure nongestational choriocarcinoma arising in the left ovary of a 19-year-old woman. Following surgery, pathologic findings of the tumor demonstrated pure choriocarcinoma without combination of other germ cell tumor elements. We confirmed its nongestational origin by DNA polymorphism analysis at 15 short tandem repeat loci. Multiple courses of chemotherapy with methotrexate, etoposide, and actinomycin-D were effective for this case. DNA polymorphism analysis is useful to determine genetic origin in pure choriocarcinoma of the ovary.

Objective: Gestational and non-gestational choriocarcinomas have distinctly different tissues of origin, parental genotypes, natural histories, and responses to therapy. Our objective was to develop a convenient, fast, and reliable assay that would, using only patient tissue, allow separation of gestational from non-gestational choriocarcinomas., Method: Benign and malignant tissues, preserved in paraffin blocks and separated by microdissection, were examined using a commercial PCR-based tissue identity assay (ABI AmpFlSTR Profiler Plus Kit and ABI 377 DNA sequencer) to detect genetic profiles of 9 microsatellite markers, along with X and Y chromosome markers. Cases included 6 choriocarcinomas. Controls included eight non-germ cell reproductive tract tumors and two hydatidiform moles., Results: The microsatellite markers identified the five choriocarcinomas diagnosed on clinical and histological grounds as gestational, to be of genetically non-maternal (androgenic) origin. The neoplasm previously classified as a non-gestational choriocarcinoma was demonstrated to be of maternal origin, as were the non-germ cell reproductive tract tumors. Samples from hydatidiform moles contained either androgenic markers only or a mix of maternal and androgenic markers, as previously seen in complete and partial moles, respectively., Conclusion: A commercially available microsatellite DNA diagnostic assay is a quick and convenient way to discriminate between gestational and non-gestational choriocarcinoma.

Pure primary ovarian choriocarcinoma is a rare condition that can be of gestational or non-gestational origin. Non-gestational choriocarcinoma has been found to be resistant to single-agent chemotherapy and has a worse prognosis than gestational choriocarcinoma, but it is difficult to distinguish the two types by routine histological examination. Herein is reported a case of primary pure non-gestational choriocarcinoma of the ovary in a 33-year-old nulligravid woman, as confirmed by DNA polymorphism analysis. All tested microsatellite markers had identical DNA profiles with the same allelic sizes between the tumor and the myometrium of the patient, who was homozygous for three markers (BAT26, BAT25 and D17S250) and heterozygous for four (D2S123, D18S57, DCC and D18S58), supporting non-gestational origin. The patient has no evidence of disease 17 months after surgery and four cycles of combination chemotherapy. This case demonstrates the usefulness of DNA polymorphism analysis for the determination of the origin of extrauterine choriocarcinoma. Clinical relevance of this method needs to be further studied and substantiated.

Nongestational choriocarcinomas are rare tumors. In the gastrointestinal tract, they are characterized by a biphasic tumor growth with separated areas of adenocarcinomatous and choriocarcinomatous differentiation. We here report a case of a combined adenocarcinoma-choriocarcinoma of the rectum. The tumor showed an aggressive clinical behavior with metastasis to the liver and lungs. A transient partial remission was achieved after 4 cycles of cisplatinum, etoposide, and ifosfamide chemotherapy, with normalization of serum beta-human chorionic gonadotropin levels. At this time, viable residual choriocarcinoma cells were found in surgically resected lung metastasis. The patient succumbed 8 months after initial diagnosis to a rapid abdominal relapse. We used comparative genomic hybridization (CGH) and fluorescence in situ hybridization to elucidate the genetic relationship of adenocarcinoma and choriocarcinoma in this neoplasm. We found genetic changes characteristic for colorectal adenocarcinomas, a loss of chromosomal regions 8p21-pter as well as 18q21-pter, and a gain of 5p and 20q, in both tumor parts. This provides evidence for the common origin of both components. A differential pattern of additional genetic changes suggests a clonal evolution from a common ancestor cell. In contrast to findings from a comparative study on a choriocarcinoma of the renal pelvis, we did not find an amplification of the germ cell cancer-associated chromosomal region 12p11.2-p12.1 in the areas of choriocarcinoma but found instead a loss of Xp11.3-pter. To our knowledge, this is the first report of a CGH comparison of the adenocarcinomatous and choriocarcinomatous tumor parts in a nongestational choriocarcinoma of the gastrointestinal tract.