Intratubular Germ Cell Neoplasia: A Case Report in a 43 Year Old Male
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OBJETIVE: Primary extragonadal germ cell tumors are rare and their histogenetic origin is not clear.We describe two cases presenting as primary retroperitoneal germ cell tumors without clinical evidence of testicular tumor.METHODS: A 21 and 18 years-old patients presented retroperitoneal choriocarcinoma and yolk sac tumor, respectively.In both cases, testicular palpation was not suspicious for testicular cancer.Testicular ultrasound founded alterations in right testes.RESULTS: A right orchitectomy were performed and the final diagnostics were mature teraroma associated with intratubular malignant germ cell.Resumen.-OBJETIVO: Los tumores primarios de células germinales extragonadales son poco frecuentes y su origen histogenético no está claro.Describimos dos casos que se presentaron como tumores de células germinales retroperitoneales sin evidencia clínica de tumor testicular. MÉTODOS: Dos pacientes de 21 y 18 años presentaron respectivamente un coriocarcinoma y un tumor del saco embrionario retroperitoneales. En ambos casos, la palpación testicular no era sospechosa de cárcel testicular. La ecografía testicular descubrió alteraciones en los testículos derechos de ambos pacientes.RESULTADOS: Se llevó a cabo orquiectomía derecha con el diagnóstico final de teratoma maduro asociado con células germinales malignas intratubulares.CONCLUSIONES: El teratoma maduro del adulto es poco frecuente, y los tumores de células germinales retroperitoneales deben ser consideradas metástasis de un cáncer testicular fundido.
Immature teratoma
Retroperitoneal space
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It is well known that testicular germ cell tumors arise with increased frequency in patients with cryptorchidism. In addition, intratubular germ cell neoplasia (ITGCN) is a precursor lesion to testicular germ cell tumor. Approximately 50% of patients with ITGCN will develop an invasive of testicular germ cell tumors within 5 years. Therefore, we evaluated that the incidence of ITGCN in postpubertal cryptorchidism.Between January 2002 and August 2012, orchiectomy specimens from 31 postpubertal patients (aged 12 or over) with cryptorchid testis were reviewed. The specimens were evaluated for ITGCN using immunohistochemical stains of placental-like alkaline phosphatase and Oct 3/4 with routine hematoxylin-eosin stain. Additionally, the degree of spermatogenesis was assessed using the Johnsen score.Mean age was 34 years (range, 17 to 74 years) at surgery. All patients were diagnosed as unilateral cryptorchidism. One patient (3.2%) of 20-year-old had ITGCN in surgical specimen with all positive markers. Histological assessment of spermatogenesis showed that mean Johnsen score was 3.42 (range, 1 to 9). Majority of patients (27 of 31) presented impaired spermatogenesis with low Johnsen score lesser than 5.Considering the risk of malignancy and low spermatogenesis, we should perform immunohistochemical stains and discuss preventative orchiectomy for the postpubertal cryptorchidism.
Orchiectomy
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The significantly increased risk for developing specific types of malignancies is clinically and biologically relevant in patients with disorders of sex development (DSD). Moreover, those patients who bear Y chromosome material in their karyotype are at increased risk for the development of type II germ-cell tumors (GCTs), arising from early fetal germ cells.[1] Intratubular germ-cell neoplasia of unclassified type (ITGCNU) in testicular tissue and gonadoblastoma in the gonads without an obvious testicular differentiation represent the precursor lesions of most GCTs.[2] ITGCNU is characterized by the presence of germ cells in the seminiferous tubules, located on their basement membrane.[3] Clinically asymptomatic, usually constitutes a microscopic finding when a testicular biopsy is performed. Small atrophic testis, family history for testicular cancer, history of infertility, and cryptorchidism are considered the other risk factors for ITGCNU. An early diagnosis of precursor lesions of GCTs is nowadays possible and advisable, thanks to the use of immunohistochemical methods. OCT ¾,[4] [5] NANOG,[6] and AP-2γ[7] are transcription factors critically involved with self-renewal of undifferentiated embryonic stem cells whose positivity on immunohistochemistry is highly predictive of malignancy in GCTs. Considering that ~50% of patients with a testicular biopsy positive for ITGCNU have developed invasive tumor at 5 years follow-up,[8] an early diagnosis and a prompt treatment according to the guidelines for type II GCTs are mandatory. In this case report, we describe a case of ITGCNU in a 46,XY DSD patient with a persistent müllerian duct syndrome (PMDS). The literature review on the association between ITGCNU and DSD and its current management is also performed showing a well-known correlation between ITGCNU and testicular microlithiasis,[9] but the description of ITGCNU in DSD patients as a remarkable point has not yet been described.
Gonadoblastoma
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Testicular microlithiasis is a rare condition that has characteristic sonographic and histologic features. It is often associated with premalignant changes and malignant neoplasms of the testes. We report a case of testicular microlithiasis associated with teratocarcinoma and intratubular germ cell neoplasia. Three previously reported cases documented development of malignant germ cell tumor during the clinical follow‐up period of patients with testicular microlithiasis. We think that testicular microlithiasis is strongly associated with testicular neoplasms, and that coexistence of intratubular germ cell neoplasia and malignant germ cell tumors with testicular microlithiasis is common.
Teratocarcinoma
Testicle
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We examined 111 radical orchiectomy specimens from patients with germ cell tumors of the testis treated between 1971 and 1981 for the presence of intratubular malignant germ cells (so-called carcinoma in situ) in adjacent testicular tissue. Of the specimens 12 were unevaluable because the entire specimen was tumor, while 36 of 44 cases of pure seminoma (82 per cent) and 41 of 55 mixed or nonseminomatous tumors (75 per cent) had intratubular malignant germ cells. Of the 22 cases without intratubular malignant germ cells 10 had severe atypia that suggested an earlier or borderline stage of development. These data support the contention that germ cell tumors originate as intratubular neoplasms or so-called carcinoma in situ in the seminiferous tubules.
Carcinoma in situ
Testicle
Atypia
Orchiectomy
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The classification of intratubular germ cell neoplasia of the testis includes an unclassified type (IGCNU), in addition to various other intratubular lesions that show specific forms of differentiation, such as intratubular seminoma and intratubular embryonal carcinoma. Although IGCNU is recognized as a precursor lesion for testicular germ cell tumors, the relationship between differentiated types of intratubular germ cell neoplasia and invasive germ cell tumors of the testis is not well established. The aim of the present study was to examine the association between invasive testicular germ cell tumors and intratubular neoplastic lesions, with particular emphasis on differentiated types of intratubular germ cell neoplasia. The seminiferous tubules adjacent to 42 testicular germ cell tumors were evaluated for the presence of various forms of intratubular germ cell neoplasia. IGCNU was observed in 37 (88%) of 42 cases, whereas intratubular seminoma and intratubular embryonal carcinoma were seen in 19% and 7% of the cases, respectively. Intratubular seminoma was associated primarily with seminomas or mixed germ cell tumors with a seminomatous component, but was also present in a case of a nonseminomatous germ cell tumor. Intratubular embryonal carcinoma was associated exclusively with nonseminomatous germ cell tumors. All cases of intratubular embryonal carcinoma were identified morphologically and exhibited histologic features corresponding to traditional definitions of this lesion. No examples of intratubular embryonal carcinoma as defined by CD30 expression alone in the absence of an intratubular proliferation were observed. The presence of intratubular seminoma in a nonseminomatous germ cell tumor suggests that it is a true preinvasive lesion rather than a manifestation of intratubular spread of an established invasive seminoma. The low incidence of intratubular embryonal carcinoma supports the theory that most nonseminomatous germ cell tumors evolve initially as seminomas, rather than directly from a differentiated intratubular neoplastic lesion.
Embryonal carcinoma
Carcinoma in situ
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The pre-invasive lesion associated with post-pubertal malignant germ cell tumours of the testis was first recognized in the early 1970s and confirmed by a number of observational and follow-up studies. Until this year, this scientific story has been confused by resistance to the entity and disagreement on its name. Initially termed 'carcinoma in situ' (CIS), it has also been known as 'intratubular germ cell neoplasia, unclassified' (IGCNU) and 'testicular intraepithelial neoplasia' (TIN). In this paper, we review the history of discovery and controversy concerning these names and introduce the reasoning for uniting behind a new name, endorsed unanimously at the World Health Organization (WHO) consensus classification 2016: germ cell neoplasia in situ (GCNIS).
Carcinoma in situ
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Germ cell neoplasia in situ is the initial manifestation for invasive germ cell tumor. Further progression will result in intratubular germ cell tumor with the majority being intratubular seminoma or intratubular embryonal carcinoma. Intratubular teratoma in the testis is exceptionally rare with no well-documented cases to our knowledge. In this article, we report a case of an intratubular teratoma adjacent to mixed germ cell tumor in the testis. The patient is a 34-year-old male who presented with a palpable right testicular mass and underwent right radical orchiectomy. Gross examination of the testis revealed 2.0-cm tan, well-circumscribed, firm, and nodular mass at the inferior pole. Microscopic examination revealed a mixed germ cell tumor, predominantly seminoma (95%) with embryonal carcinoma (4%) and teratoma (1%). There is also germ cell neoplasia in situ, intratubular seminoma, and intratubular teratoma at the periphery of the tumor. Tubules with intratubular teratoma were filled by neoplastic squamous cells with a single layer of germ cell neoplasia in situ at the periphery. Adjacent to the intratubular teratoma was seminoma, embryonal carcinoma, and invasive teratoma. Immunohistochemical stains showed the neoplastic squamous cells in the tubule to be positive for p40 and negative for OCT34 and D2-40. The single layer of germ cell neoplasia in situ at the periphery of the intratubular teratoma was negative for p40 and positive for OCT34 and D2-40. Although teratoma is a common component in an adult germ cell tumor, an intratubular manifestation is exceptional. The present case illustrates this rare finding.
Embryonal carcinoma
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The histogenesis of extragonadal germ cell tumors remains an enigma. The majority of patients with retroperitoneal tumors are male, and careful histologic evaluation reveals preinvasive intratubular germ cell neoplasia (ITGCN) or scars in the testis suggesting a so-called "burnt out" germ cell tumor. However, in the testes of patients with primary mediastinal germ cell tumors, no ITGCN has been described in the literature to date. The authors report the first case of simultaneous germ cell neoplasia in the mediastinum and the testis, providing further insights into the biology and origin of these lesions.The authors report the pathologic features and cytogenetic findings in an adult male with a mediastinal germ cell tumor and asymmetric testis. This patient died shortly after diagnosis.A locally invasive mediastinal nonseminomatous germ cell tumor was associated with ITGCN in one testis. Metastases were not present clinically or on autopsy during a detailed and systematic examination of retroperitoneal lymph nodes and other viscera. Neither an invasive germ cell tumor nor a scar was found in either testis (both testes were serially sectioned and entirely examined histologically).The findings of this study suggest that the mediastinal tumor is a primary neoplasm with concomitant in situ lesion in one testis, suggesting a more generalized defect of germ cell and thus providing new information about the unresolved issue of the histogenesis of extragonadal germ cell tumors. This article presents a review of the literature concerning the issues highlighted by this case and discusses the hypotheses regarding the development of extragonadal germ cell tumors.
Histogenesis
Mediastinal tumor
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