and Pilar González-Peramato2
KeywordsTesticular neoplasmsSpermatocytic tumorYolk sac tumor, prepubertal-typeTeratoma, prepubertal-type
Following 2016 WHO classification, tumors that meet these three characteristics are included in this group: they are not associated with GCNIS, they do not present 12p chromosome amplification, usually in the form of 12p isocromosome, and they do not settle on testes with testicular dysgenesis. Three entities are included: spermatocytic tumor (type III germ cell tumor), teratoma, prepubertal-type (type I germ cell tumor of the testis), and yolk sac tumor, prepubertal-type (type I germ cell tumor of the testis). The spermatocytic tumor probably originates in premeiotic germ cells (cells in transition between spermatogonias and spermatocytes). Cytogenetically, it is characterized by gains of chromosome 9. It is an exclusive tumor of the testicle and appears in ages older than the tumors derived from GCNIS (mean of age is 52–59 years). In most cases, their behavior is benign. Two cases are included: the first one we could consider characteristic with some peculiarities, and the second one, although it is not admitted as a variant of the spermatocytic tumor, has some interesting and unusual data.
The other two germ cell tumors not related to GCNIS are teratoma, prepubertal-type and the yolk sac tumor, prepubertal-type. They are typical of the first few years of life. Teratoma, prepubertal-type is characterized by being constituted by derivatives of one or more blastodermic leaves. It can be seen in both the child and the adult. All the teratomas, prepubertal-type described in childhood, as some teratomas prepubertal-type reported in adults do not metastasize and their behavior is benign, enucleation being adequate as their treatment. Due to the great diversity of tissues that may be present, a total 8 cases distributed in the following manner have been selected: two cases that can be considered conventional, four cases that include a dermoid cyst, a teratoma that simulates a burned-out tumor, a broken epidermoid cyst that also simulates a burned-out tumor, a hybrid cyst (epidermoid and trichilemmal) and two teratomas, prepubertal-type in adults. Yolk sac tumor prepubertal-type is the second most common germ cell tumor in childhood behind teratomas, prepubertal-type. Most times it appears in the first 2 years of life. It is a tumor that differentiates extraembryonic structures such as yolk sac, allantois, and extraembryonic mesenchyme. This confers it a diversity of histological patterns, so it is usual that several patterns can be identified in the same tumor. The prognosis is much better than in its adult’s counterpart. Three cases with different combinations of structural patterns have been chosen.
Yolk sac tumors, prepubertal-type require aggressive chemotherapy and orchiectomy. Three cases of yolk sac tumor, prepubertal-type have been chosen to show the different tumor patterns.
2.1 Spermatocytic Tumor
Case 39. Spermatocytic Tumor
Clinical case. A 59-year-old patient who presented with a 1-year-long painless progressive growth of the right testicle. He disclosed negative tumor markers (AFP, hCG, and LDH).
Comments. The presence of three cell types in the same tumor associated with the characteristics of the chromatin of medium and large cells that resembles germ cell spiremas at the beginning of the first meiotic division, makes the diagnosis of the spermatocytic tumor very easy. Interesting facts in this case are the intense edema that determines the appearance of a macrocystic pattern and the formation of structures similar to thyroid follicles. Spermatocytic tumor is a tumor only seen in the testicle. Its incidence is 0.4 cases per million, 0.61% of all germ cell tumors. The age of presentation (53.5 years) is higher than that of the seminoma and has no greater incidence in cryptorchidic patients. About 6% of cases present sarcomatous transformation with rhabdomyosarcoma being the most frequent component. In these cases, the behavior is aggressive. Exceptionally, spermatocytic tumors, without a sarcomatous transformation, can metastasize. The immunohistochemical markers common in the studies of germ cell tumors (PLAP, AFP, podoplanin, CD30, OCT3/4) are negative. Markers such as GAGE7 and NY-ESO-1 may be more useful. The electron microscopy shows a distribution of chromatin that recalls the spiremas of the first-order spermatocytes.
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Kao CS, Badve SS, Ulbright TM. The utility of immunostaining for NUT, GAGE7 and NY-ESO-1 in the diagnosis of spermatocytic seminoma. Histopathology. 2014. doi: 10.1111/his.12365.
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Narins H, Chevli K, Gilbert R, Duff M, Toenniessen A, Hu Y. Bilateral spermatocytic seminoma: a case report. Res Rep Urol. 2014;6:63–5.
Hu R, Ulbright TM, Young RH. Spermatocytic seminoma: a report of 85 cases emphasizing its morphologic spectrum including some aspects not widely known. Am J Surg Pathol. 2019;43:1–11.
Jha RK, Mathur S, Saidha NK. A case of spermatocytic seminoma in young individual. Med J Armed Forces India. 2018;74:276–9.
Pandey V, Khatib Y, Khade AL, Pandey R, Khare MS. Spermatocytic seminoma with rhabdomyoblastic differentiation: case report and review of literature. Indian J Pathol Microbiol. 2018;61:437–9.
Wagner T, Grantham M, Berney D. Metastatic spermatocytic tumour with hybrid genetics: breaking the rules in germ cell tumours. Pathology. 2018;50:562–5.
Case 40. Anaplastic Variant of Spermatocytic Tumor
Clinical case. A 32-year-old patient who over 1 month had had progressive enlargement of the left testicle with discomfort but without fever. The ultrasound examination showed a very heterogeneous left testicle with multiple hyperechoic areas. The 3-cm in diameter epididymis head was also hyperechoic. Hydrocele was also observed but tumor markers were negative.
Comments. The tumor meets the characteristics of the so-called anaplastic variant of the spermatocytic tumor by some. It is characterized by the proliferation in sheets of medium-sized monomorphic cells. The other two cell types of these tumors are very rare or absent. This case adds another peculiarity, its aggressive behavior infiltrating paratesticular structures. A differential diagnosis could be considered with seminoma (does not express PLAP or OCT3/4), with embryonal carcinoma (does not express CD30 or cytokeratins) and with a lymphoma (absence of specific markers). It is a tumor, which, as in this case, appears at a younger age than the usual spermatocytic tumor. Less than a dozen cases have been published, one of them bilateral. Whether or not it is a variant with more aggressive behavior is a matter for discussion.
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Lombardi M, Valli M, Brisigotti M, Rosai J. Spermatocytic seminoma: review of the literature and description of a new case of the anaplastic variant. Int J Surg Pathol. 2011;19:5–10.
Gentile G, Giunchi F, Schiavina R, Franceschelli A, Borghesi M, Zukerman Z, Cevenini M, Vagnoni V, Romagnoli D, Colombo F, Martorana G, Brunocilla E. First case of bilateral, synchronous anaplastic variant of spermatocytic seminoma treated with radical orchifunicolectomy as single approach: case report and review of the literature. Arch Ital Urol Androl. 2014;86:41–2.
Mikuz G, Böhm GW, Behrend M, Schäfer G, Colecchia M, Verdorfer I. Therapy-resistant metastasizing anaplastic spermatocytic seminoma: a cytogenetic hybrid: a case report. Anal Quant Cytopathol Histpathol. 2014;36:177–82.
2.2 Teratoma, Prepubertal-Type
Case 41. Teratoma, Prepubertal-Type (Ectodermic and Endodermic Preferential Differentiation)
Clinical case. A 10-month-old boy with progressively growing right testicle over the last 3 months. The ultrasonography revealed intraparenchymatous cystic lesions with hyperechoic areas inside. The tumor markers were negative.
Comments. This teratoma shows the most typical characteristics of teratoma, prepubertal-type: it derives from several blastodermal leaves, absence of immature tissues, an arrangement of tissues in an easily identifiable organoid pattern, and what is definitive, absence of GCNIS. However, it should not be forgotten that in older children and in pubertal patients, teratomas may be associated with GCNIS and, despite their age, postpubertal-type teratoma should be considered.
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Fan R, Zhang J, Cheng L, Lin J. Testicular and paratesticular pathology in the pediatric population: a 20 year experience at Riley hospital for children. Pathol Res Pract. 2013;209:404–8.
Hoag NA, Afshar K, Youssef D, Masterson JS, Murphy J, Macneily AE. Cystic intratesticular lesions in pediatric patients. J Pediatr Surg. 2013;48:1773–7.
Epifanio M, Baldissera M, Esteban FG, Baldisserotto M. Mature testicular teratoma in children: multifaceted tumors on ultrasound. Urology. 2014;83:195–7.
Cornejo KM, Cheng L, Church A, Wang M, Jiang Z. Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas. Hum Pathol. 2016;49:54–60.
Case 42. Enterogenous Cyst of the Testis in a Child
Clinical case. A 6-year-old boy with a history of testicular trauma 3 years ago, in follow-up consultation due to increased size of the right testicle. The ultrasonography revealed that the testicle measured 30 × 15 mm and presented a nodular lesion that took two third of the testis, with hypoechoic areas. The head of the epididymis was heterogeneous with calcifications. Tumor markers (AFP, b-HCG, and lactate dehydrogenase) were within normal limits. Lumpectomy was performed.
Comments. The most prominent features of this tumor are its cystic aspect, the mucous content, the organoid pattern that forms a wall similar to that of the large intestine and the lack of atypia in all its components. At a first view, the organoid pattern, the patient’s age, and the absence of GCNIS would suggest a prepubertal-type teratoma. But there are some histological data that suggest that this is not a good diagnosis: the perfect organization of the larger cyst wall, the intestinal-type epithelium with glands surrounded by a layer with abundant smooth muscle cells. And, which is more important, there is absence of any derivative of another blastodermic leaf. These two facts rule out the diagnosis of teratoma and, on the other hand, suggest the diagnosis of an enterogenous cyst.
The reported enterogenous cysts are preferably located in the mediastinum, the peritoneal cavity, the spinal canal subarachnoid space, and the cerebral ventricle. So far, only one case has been reported in a child. The most accepted histogenesis that could explain the enterogenic cysts of other locations, the “Split notochord syndrome,” is difficult to apply to testicular enterogenic cysts. A good alternative is based on the embryology of the testicle. Primordial germ cells originate in the extraembryonic mesoderm in intimate relation with the wall of the yolk sac, and until they colonize the genital crests that develop in the 4th and 5th weeks they travel a long way through the dorsal mesentery. It could occur that at any moment of the development they dragged cells of the primitive intestine that would end up developing the enterogenic cyst.