scholarly journals Klinefelter syndrome and germ cell tumors: review of the literature

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Kimberley Bonouvrie ◽  
Jutte van der Werff ten Bosch ◽  
Machiel van den Akker
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Klinefelter Syndrome ◽  
Case Reports ◽  
Age Groups ◽  
Germ Cell Tumors ◽  
Young Patients ◽  
Cell Tumor ◽  
Healthy Population ◽  
Extragonadal Germ Cell Tumors

Abstract Objective The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. Currently no consensus exists on the risk of malignancy in this syndrome. Several case reports show an incidence of extragonadal germ cells tumors (eGCT) of 1.5 per 1000 KS patients (OR 50 against healthy population). Malignant germ cell tumors are rare in children. They account for 3% of all children cancers. Young patients with a germ cell tumor are not routinely tested for Klinefelter syndrome. This can therefore result in underdiagnosing. Literature data suggest a correlation between eGCT and KS. To the best of our knowledge there is no precise description of the primary locations of germ cell tumors in KS patients. The purpose of this study is to evaluate age groups and primary locations of extragonadal germ cell tumors in Klinefelter patients. With this data we investigate whether it is necessary to perform a cytogenetic analysis for KS in every eGCT patient. Study design This study is based on case report publications in PubMed/Medline published until march 2020 that described “Klinefelter Syndrome (MeSH) AND/OR extragonadal germ cell tumors”. Publications were included when patients age, location and histology of the germ cell tumor was known. Two double blinded reviewers selected the studies.Results: 141 KS patients with eGCTs were identified. Mean age at presentation was 17.3 years (StDev + − 10.2). In contrast to the extragonadal germ cell tumors in adults, most eGCT in children were mediastinal or in the central nervous system (respectively 90/141; 64% and 23/141; 16% of all tumors). Distribution of histologic subtypes showed that the largest fraction represented a teratoma, mixed-type-non-seminomateus GCT and germinoma, respectively 34/141; 24%, 26/141; 18% and 20/141; 14% of all tumors. Conclusion These data suggest a correlation between primary extragonadal germ cell tumors and Klinefelter syndrome. There appears to be an indication for screening on KS in young patients with an eGCT in the mediastinum. A low threshold for radiologic examinations should be considered to discover eGCT. We emphasize the need for genetic analysis in all cases of a male with a mediastinal germ cell tumor for the underdiagnosed Klinefelter syndrome.

Klinefelter's syndrome associated with mediastinal germ cell neoplasms.

1987 ◽  
Vol 5 (8) ◽  
pp. 1290-1294 ◽  
Author(s):  
C R Nichols ◽  
N A Heerema ◽  
C Palmer ◽  
P J Loehrer ◽  
S D Williams ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Case Reports ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Cell Neoplasm ◽  
Mediastinal Germ Cell Tumor ◽  
Mediastinal Germ Cell Tumors

Several case reports have suggested an association of primary mediastinal germ cell tumor (PMGCT) and Klinefelter's syndrome (KS). In an effort to confirm this association, 22 patients with mediastinal germ cell tumors had chromosome studies performed in a prospective fashion. Five patients (22%) had karyotypic or pathologic evidence of KS. All of the patients with KS had germ cell tumors of the nonseminomatous subtype and were relatively young (median age, 15 years). The literature confirms the findings of a young median age (18 years), nonseminomatous subtype, and mediastinal location of the germ cell neoplasm. We conclude that patients with KS are predisposed to the development of mediastinal nonseminomatous germ cell cancers.

scholarly journals Unusual Presentations of Gynecologic Tumors: Extragonadal Yolk Sac Tumor of the Vulva

2016 ◽  
Vol 141 (2) ◽  
pp. 293-297 ◽  
Author(s):  
Elizabeth D. Euscher
Keyword(s):  
Germ Cell ◽  
Case Reports ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Cell Tumor ◽  
Yolk Sac Tumor ◽  
Small Series ◽  
Gynecologic Tumors ◽  
Malignant Germ Cell Tumor ◽  
Extragonadal Germ Cell Tumors

Extragonadal germ cell tumors are uncommon, and although they morphologically resemble their gonadal counterparts, unexpected gonadal presentation increases the potential for erroneous diagnoses. Yolk sac tumor is a malignant germ cell tumor characterized by an extraembryonic yolk sac line of differentiation, and relative to other germ cell tumors, is characterized by varied and diverse histologic patterns. When occurring outside of typical age parameters or in extragonadal locations, the histologic variability of yolk sac tumor and its tendency to mimic somatic tumors pose diagnostic challenges. Because extragonadal yolk sac tumor of the vulva is very rare, with only isolated case reports and small series in the literature, it is often not considered in the differential diagnosis. As both prognosis and management of yolk sac tumor differ significantly from those of somatic tumors, accurate diagnosis is essential. This review discusses histologic features of extragonadal yolk sac tumor, addresses somatic tumors arising in the vulva for which yolk sac tumor may be confused, and provides guidance with respect to the use of immunohistochemistry in the diagnosis of yolk sac tumor.

scholarly journals Extragonadal mediastinal germ cell tumor

2021 ◽  
pp. 144-151
Author(s):  
G. V. Tishchenko ◽  
A. I. Shalyga ◽  
I. A. Tsishchanka
Keyword(s):  
Germ Cell ◽  
Histological Examination ◽  
Germ Cell Tumor ◽  
Germ Cells ◽  
Clinical Case ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Malignant Neoplasms ◽  
Mediastinal Germ Cell Tumor ◽  
Extragonadal Germ Cell Tumors

Extragonadal germ cell tumors (GCTs) are neoplasms that develop from germ cells and have a similar histopathological structure with the gonadal forms of GCTs, but are located outside the gonads. GCTs are the most common malignant neoplasms in men aged 15–35. From 1 to 5 % of malignant GCTs are of the extragonadal origin.The work describes a clinical case of extragonadal mediastinal germ cell tumor, which was diagnosed at the stage of the histological examination of the surgical material.

scholarly journals A Young Female with Mass Originating from Middle Lobe of Lung-Choriocarcinoma: Extragonadal Germ Cell Tumor

2021 ◽  
Vol 2 (9) ◽  
pp. 768-770
Author(s):  
Muhammad Umer Salim ◽  
Mohammad Rabie Alrohaibani ◽  
Mohammed Hassan Shabrawishi ◽  
Sobhy Atalla Ibrahim ◽  
Abed Sabry Elfar ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Young Female ◽  
Middle Lobe ◽  
Cell Tumor ◽  
Reverse Migration ◽  
Rare Tumors ◽  
Extragonadal Germ Cell Tumors

Extragonadal germ cell tumors are the rare tumors originate commonly from the mediastinum and the reason is still unknown however; there are theories, which suggest that the gonadal cells in the mediastinum represent reverse migration from the gonads. A young female presented with mass originating from the middle lobe of lung and right sided pleural effusion that was drained, and biopsy was taken from the mass; diagnosed as choriocarcinoma. She received (BEP) Bleomycin, Etoposide and Cisplatin chemotherapy; responded well and her symptoms improved.

scholarly journals GCT-06. DIAGNOSIS OF A RARE CASE OF RECURRENT GERM CELL TUMOR BY CSF PLACENTAL ALKALINE PHOSPHATASE PRESENTING WITH DIFFUSE INTRAAXIAL ABNORMALITY IN THE LOWER BRAINSTEM

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii329-iii329
Author(s):  
Hiroki Yamada ◽  
Tomohiro Abiko ◽  
Hirokazu Fujiwara ◽  
Kazunari Yoshida ◽  
Hikaru Sasaki
Keyword(s):  
Alkaline Phosphatase ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Rare Case ◽  
Cervical Spinal Cord ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Placental Alkaline Phosphatase ◽  
Steroid Pulse ◽  
Platinum Based Chemotherapy

Abstract INTRODUCTION Germ cell tumors in the central nervous system (CNS) typically arise either at suprasellar and/or pineal region, and occasionally at basal ganglia. We report a case of diagnostically challenging, recurrent germ cell tumor presented with diffuse intraaxial abnormality in and across the lower brainstem, which was diagnosed by the elevated placental alkaline phosphatase (PLAP) level in cerebrospinal fluid (CSF). CASE DESCRIPTION: A 28-year-old man had been treated by chemoradiotherapy at the previous hospital for bifocal suprasellar and pineal lesions with the provisional diagnosis of germinoma without histological confirmation. Three years later, he presented with progressive weakness of bilateral extremities for weeks. Magnetic resonance imaging showed a diffuse, bilaterally symmetric high intensity lesion on T2-weighted image with slight contrast enhancement across the ventral side of the medulla oblongata to the upper cervical spinal cord. Serum and CSF hCG, hCG-β, and AFP were all negative. Since the image findings were atypical for recurrent germ cell tumor, some kind of myelitis was initially suspected. Therefore, steroid pulse therapy was administered. However, the patient’s symptom was still gradually progressing. Then, the CSF PLAP turned out to be positive, indicating the recurrence of germinoma. Accordingly, platinum-based chemotherapy was administered, and the imaging findings, patient’s symptoms, and CSF PLAP began to improve. The patient is to be treated with radiotherapy following chemotherapy. CONCLUSION We report a rare case of CNS germ cell tumor that presented with diffuse intraaxial lesion in the lower brainstem in which examination of CSF PLAP was extremely useful.

scholarly journals A rare case of mixed germ cell tumor in a teenage girl: a case report

2017 ◽  
Vol 6 (6) ◽  
pp. 2663
Author(s):  
Faraz S. Vali ◽  
Amit Kyal ◽  
Parul I. Chaudhary ◽  
Sujatha Das ◽  
Aprateem Mukherjee ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Embryonal Carcinoma ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Ca 125 ◽  
Gestational Choriocarcinoma ◽  
Mixed Germ Cell Tumor ◽  
Initial Surgery ◽  
Alpha Feto Protein

Germ cell tumors represent only 20% to 25% of all benign and malignant ovarian neoplasms. Mixed germ cell tumors are a rare variety of non–dysgerminomatous germ cell tumors. They contain two or more elements; the most frequent combination being a dysgerminoma and an EST (Endodermal Sinus Tumor). We present a case of malignant mixed germ cell tumor comprising of yolk sac tumor, embryonal carcinoma and choriocarcinoma. A 13-year-old girl presented with a huge 25 x 18 cm mass in abdomen with raised values of CA-125, hCG, AFP (alpha-feto protein) and LDH (lactate dehydrogenase). She underwent laparotomy followed by unilateral salpingoopherectomy and infracolic omentectomy. Histopathology report revealed malignant mixed germ cell tumor comprising predominantly of EST with elements of embryonal carcinoma and non-gestational choriocarcinoma. Following surgery, she was started on adjuvant chemotherapy (Bleomycin, Etoposide and Cisplatin regimen). Mixed germ cell tumor (YST/EST, non-gestational choriocarcinoma and embryonal carcinoma) is a very rare tumor. Careful initial surgery with adequate staging biopsies followed by combination chemotherapy can greatly improve the prognosis of these patients

scholarly journals Primary Extragonadal Germ Cell Tumors in Klinefelter Syndrome: 10-Years of Experience from a Single Institute

2020 ◽  
Vol 27 (1) ◽  
pp. 61-66
Author(s):  
Yura Kim ◽  
Won Kee Ahn ◽  
Jung Woo Han ◽  
Seung Min Hahn ◽  
Seung Yeon Kwon ◽  
...  
Keyword(s):  
Germ Cell ◽  
Klinefelter Syndrome ◽  
Germ Cell Tumors ◽  
Years Of Experience ◽  
Extragonadal Germ Cell Tumors

scholarly journals Pediatric Germ Cell Tumors: An Experience of 7 Years in a Tertiary Hospital of Bangladesh

2020 ◽  
Vol 35 (2) ◽  
pp. 119-122
Author(s):  
SM Rashed Zahangir Kabir ◽  
Md Waheed Akhtar ◽  
Farida Yasmin
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Tertiary Care ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Cell Tumor ◽  
Yolk Sac Tumor ◽  
Treatment Modalities ◽  
Care Hospital ◽  
Childhood Malignancies

Introduction: Germ cell tumors are a group of tumors with different clinical presentation and histological and biological characteristics. Malignant germ cell tumors occur at all ages with a trend of bimodal distribution in infancy and adolescence. Objective: To evaluate the demographic characteristics, distribution of different types of germ cell tumor, treatment modalities and outcome of germ cell tumor in children in a tertiary care hospital of Bangladesh. Methods: In this retrospective study, data regarding age and sex distribution, location, types of tumors, management of germ cell tumor in children were retrieved from the medical records of pediatric oncology department in NICRH, Dhaka from 2008 to 2014. Results: Out of total 87 patients female were 50 and male 37. Most of the patients were up to 5 years of age. The gonadal germ cell tumors (80%) were more than extragonadal tumor (20%) in both male and female patients. The most common germ cell tumor was dysgerminoma (32%) followed by yolk sac tumor (29.8%) and teratoma (19.5%). Yolk Sac Tumor (51.4%) was the most common in male and dysgerminoma (56%) the commonest in female. Out of 87, seventy two (82.7%) received chemotherapy following surgery. Among those 72 patients who received chemotherapy 49 (68 %) patients completed their treatment. Until the last follow up 71.4% patients remained alive and tumor free. Conclusion: Germ cell tumors are the most variable tumor of all childhood malignancies that has difference in age, sex, location and histological subtypes. Gonadal tumors have better prognosis than extragonadal tumors in both the sex. DS (Child) H J 2019; 35(2) : 119-122

scholarly journals MPC-08 CLINICOPATHOLOGICAL ANALYSIS OF 12P GAIN IN INTRACRANIAL GERM CELL TUMORS

2019 ◽  
Vol 1 (Supplement_2) ◽  
pp. ii23-ii23
Author(s):  
Kaishi Satomi ◽  
Hirokazu Takami ◽  
Shintaro Fukushima ◽  
Yoichi Nakazato ◽  
Shota Tanaka ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Copy Number ◽  
Mature Teratoma ◽  
Methylation Status ◽  
Germ Cell Tumors ◽  
Copy Number Variations ◽  
Cell Tumor ◽  
Testicular Germ Cell ◽  
Intracranial Germ Cell Tumor

Abstract BACKGROUND Gain of short arm of chromosome 12 (12p) is commonly observed in testicular germ cell tumors (tGCTs). 12p gain is also frequently seen in intracranial GCTs (iGCTs). However, little is known about the clinical significance of 12p gain in iGCTs. MATERIALS AND METHODS We have collected over 200 fresh frozen tissue samples of iGCTs through the Intracranial Germ Cell Tumor Genome Analysis Consortium in Japan. Firstly, we analyzed DNA methylation status in 83 iGCTs, 3 seminomas and 6 normal control samples using Infinium Human Methylation 450K BeadChip array (Illumina, CA). Idat files were processed using R (Version 3.5.3) and minfi package (1.30.0) to generate copy number variations. Compared with average genome-wide copy number level, 12p gain was determined. Then, 58 iGCTs with clinicopathological information were analyzed for progression-free survival (PFS) and overall survival (OS). Those tumors that consist of only either germinoma and/or mature teratoma components were classified as Favorable Histology (FH) and all the others that contains malignant histological components were classified as Unfavorable Histology (UFH). RESULT 12p gain was observed in 100% (3/3) of seminoma, 13.6% (3/22) of germinoma, 16.7% (1/6) of mature teratoma, 25% (1/4) of immature teratoma, 55% (11/20) of mixed germ cell tumor, 100% (4/4) of yolk sac tumor, 100% (1/1) of embryonal carcinoma, and 100% (1/1) of choriocarcinoma. In total, 44.6% (37/83) of iGCT showed 12p gain. Regarding histological classification, the 12p gain rate in UFH (72%, 18/25) was significantly higher than that in FH (12.1%, 4/33, P<0.01). Both PFS and OS were significantly worse in iGCTs with 12p gain (PFS: P=0.027, OS: P=0.0012). DISCUSSION 12p gain can be a molecular marker to predict prognosis and histological malignancy in iGCTs.

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