Primary mediastinal choriocarcinoma in a female patient: Case report and review of the literature

Batman, Samantha; Morgan, Terry K.; Brunetti, Marta; Strandabø, Rønnaug A.U.; Micci, Francesca; Moffitt, Melissa; Pejović, Tanja

doi:10.1016/j.gore.2018.10.013

Cited by 4 publications

(6 citation statements)

References 13 publications

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“…Isochromosome i(12p) has been detected in primary mediastinal choriocarcinoma 106. One case of mediastinal choriocarcinoma was found to harbor a gain in the chromosome region from 2p16 to 2p terminal, and losses of or from 6p, 6q12q22, 9p, 10q21q25, 13q, and 22q 93. Another case demonstrated low probability of microsatellite-instability-high and harbored a pathogenic mutation at exon 2 of PTEN 91.…”

Section: Choriocarcinomamentioning

confidence: 99%

“…Pure choriocarcinoma primary to the mediastinum is a rare diagnosis, yet several case reports and small series describe cases with similar histologic features to tumors at more common sites of choriocarcinoma. [91][92][93][94][95][96][97][98][99][100][101][102] Like other mediastinal GCTs, histologic findings (Fig. 4) between sites are thus indistinguishable.…”

Section: Histologymentioning

confidence: 99%

“…Case series and reports including immunohistochemical analysis of pure mediastinal choriocarcinoma 56,60,[91][92][93][95][96][97][98][99][100][101][103][104][105] have shown consistent hCG and pancytokeratin immunoreactivity. Conversely, AFP, PLAP, CD30, vimentin, CEA, OCT3/4, c-kit (CD117), and CK5/6, and TTF-1 were consistently negative.…”

Section: Immunohistochemistrymentioning

confidence: 99%

“…106 One case of mediastinal choriocarcinoma was found to harbor a gain in the chromosome region from 2p16 to 2p terminal, and losses of or from 6p, 6q12q22, 9p, 10q21q25, 13q, and 22q. 93 Another case demonstrated low probability of microsatellite-instability-high and harbored a pathogenic mutation at exon 2 of PTEN. 91 A missense mutation of p53 tumor suppressor gene was found in another case.…”

Section: Molecular Findings and Geneticsmentioning

confidence: 99%

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Mediastinal Germ Cell Tumors: A Review and Update on Pathologic, Clinical, and Molecular Features

El-Zaatari

2021

Advances in Anatomic Pathology

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Mediastinal germ cell tumors (MGCTs) are the most common extragonadal germ cell tumors (GCTs) and most often arise in the anterior mediastinum with a male predilection. MGCTs also have a predilection for patients with Klinefelter syndrome and possibly other genetic conditions. MGCTs, as GCTs at other extragonadal sites, are thought to arise from germ cells improperly retained during migration along the midline during embryogenesis. Similar to their counterparts in the testes, MGCTs are classified into seminomatous and nonseminomatous GCTs. Seminomatous MGCT represents pure seminoma, whereas nonseminomatous MGCTs encompass pure yolk sac tumors, embryonal carcinoma, choriocarcinoma, mature or immature teratoma, and mixed GCTs with any combination of GCT types, including seminoma. Somatictype or hematologic malignancies can also occur in association with a primary MGCT. MGCTs share molecular findings with GCTs at other sites, most commonly the presence of chromosome 12p gains and isochromosome i(12p). Treatment includes neoadjuvant chemotherapy followed by surgical resection of residual tumor, with the exception of benign teratomas, which require only surgical resection without chemotherapy. In this review, we highlight and provide an update on pathologic, clinical, and molecular features of MGCTs. Immunohistochemical profiles of each tumor type, as well as differential diagnostic considerations, are discussed.

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Section: Choriocarcinomamentioning

confidence: 99%

Section: Histologymentioning

confidence: 99%

Section: Immunohistochemistrymentioning

confidence: 99%

Section: Molecular Findings and Geneticsmentioning

confidence: 99%

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Mediastinal Germ Cell Tumors: A Review and Update on Pathologic, Clinical, and Molecular Features

El-Zaatari

2021

Advances in Anatomic Pathology

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“…Those with primary mediastinal choriocarcinoma have symptoms that are non-specific and share features seen in metastatic disease which makes the diagnosis difficult. Most commonly, symptoms reported include cough, dyspnea, hemoptysis, and chest pain [4,6]. Like other choriocarcinoma subtypes, elevated serum beta-human chorionic gonadotropin (hCG) levels as well as trophoblastic cells on histologic examination support the diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Choriocarcinoma Presenting as a Pleural Effusion

Hamera¹,

Posch²,

Abraham³

et al. 2020

Cureus

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Choriocarcinoma is a germ cell tumor characterized by widespread metastases and poorly differentiated cells. Non-gestational choriocarcinoma, or primary choriocarcinoma is a trophoblastic disease which is associated with a poor patient prognosis and is markedly angioinvasive. Primary non-gestational mediastinal choriocarcinoma is a very rare disease and represents an aggressive malignancy, primarily seen in young males. Those with primary mediastinal choriocarcinoma have symptoms that are non-specific such as cough, dyspnea, hemoptysis, and chest pain. Here we present the case of a 47-year-old Caucasian female who presented with worsening dyspnea and cough. Laboratory testing revealed elevated alkaline phosphatase, human chorionic gonadotropin, and cancer antigen 125. Chest X-ray was significant for a large right pleural effusion and a computed tomography angiogram of the chest showed a soft tissue mass in the anterior medial right lung base/right middle lobe. Thoracentesis yielded results consistent with malignant cells favoring a germ cell tumor. Biopsy of the mediastinal mass revealed positivity for inhibin and both human chorionic gonadotropin and CD-10 which led to the diagnosis of primary choriocarcinoma. Primary mediastinal choriocarcinoma is uncommon and often has a non-specific clinical presentation. A high degree of suspicion is needed as this malignancy can be aggressive, necessitating urgent definitive tissue biopsy diagnosis to guide appropriate therapy.

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Cytology of pleural effusion in primary mediastinal choriocarcinoma mimicking squamous cell carcinoma

Zhan

Chen

2022

Asian Journal of Surgery

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Primary mediastinal choriocarcinoma in a female patient: Case report and review of the literature

Abstract: HighlightsPrimary mediastinal choriocarcinoma is rare, especially in female patients.Genomic losses predominated our case, which has not been previously reported.This tumor lacked human chorionic gonadotropin and required histologic diagnosis.

Cited by 4 publications

References 13 publications

Mediastinal Germ Cell Tumors: A Review and Update on Pathologic, Clinical, and Molecular Features

Mediastinal Germ Cell Tumors: A Review and Update on Pathologic, Clinical, and Molecular Features

Choriocarcinoma Presenting as a Pleural Effusion

Cytology of pleural effusion in primary mediastinal choriocarcinoma mimicking squamous cell carcinoma

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