Journal of Pathology and Translational Medicine

Original Article

KIT/PDGFRA Expression and Mutation in Testicular Seminoma and Ovarian Dysgerminoma.: Song Yi Choi, Kwang Sun Suh, Yong Beom Kim, Hyun Jeong Lee, Eun Sun Kim, Mee Ja Park; Korean J Pathol. 2009;43(6):528-534.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.6.528

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BACKGROUND
KIT and PDGFRA are tyrosine kinase receptors. Stem cell factor/KIT-mediated signaling plays a role in normal spermatogenesis, and the alteration of KIT is important in the pathogenesis of seminomas/dysgerminomas (SD). METHODS: To determine the role of expression and mutation of the KIT and PDGFRA genes, we analyzed 16 seminoma cases, 4 spermatocytic seminoma (SS) cases and 8 dysgerminoma cases for KIT and PDGFRA expression and mutation of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) using PCR-SSCP methods. RESULTS: KIT was immunohistochemically positive in all 24 SD cases, and one of four (25%) SS cases. PDGFRA was immunohistochemically evident in 16 of the 24 (66.6%) SD cases, and two of the four (50%) SS cases. KIT expression was significantly reduced in SS compared with seminoma (p=0.0035). Four cases (14.3%) displayed mutation in KIT exon 17 or PDGFRA exon 12. Distant metastasis was present in three cases (10.7%), one of which had a nonsense mutation in KIT. CONCLUSIONS: These results indicate that KIT is expressed in the majority of SD cases, but not in most SS cases. However, there was no significant correlation between the clinicopathologic features and mutation or expression of KIT and PDGFRA.

Citations

Citations to this article as recorded by

Expression of DOG1, PDGFRA, and p16 in Gastrointestinal Stromal Tumors
Sung Hee Jung, Kwang Sun Suh, Dae Young Kang, Dong Wook Kang, Young-Beum Kim, Eun-Sun Kim
Gut and Liver.2011; 5(2): 171. CrossRef

Case Reports

Trichogerminoma: A case report.: Sung Suk Paeng, Jin Hee Sohn, Duck Hwan Kim, Hee Jin Chang, Jung Il Suh, Kye Yong Song; Korean J Pathol. 1996;30(4):340-343.

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Abstract PDF: Though trichogenic tumors were classified as trichoblastoma, trichoblastic fibroma, trichogenic trichoblastoma and trichogenic myxoma by Headington(1970), their true classification depends upon the epithelial and mesodermal component as well as evidence of their induction. Because of the rarity of hair germ cell tumors their classification is still controversial. In this report, we describe a case of trichogerminoma which is not included in the above classification. The trichogerminoma was first described by Sau et al. in 1992 and characterized by its morphologic pattern of germinal centers and lymphoid follicle-like structures in the nests of trichoblasts. Herein we reporte a tumor which arose on the skin on the back of a 51-year-old man and presented as a sharply circumscribed mass(4.5x2.0x1.5 cm) involving both the dermal and subcutaneous tissues without any epidermal connection. The tumor had many germinal center-like structures in the basaloid trichoblasts. Lobular cell nests were separated by variable amounts of stroma, but no horn cyst were noted. The germinal center-like cells showed early differentiation of hairs, resembling early hair bulbs. Trichogerminoma is considered to be a type of tumor located between trichoblastoma and trichoblastic fibroma.

Gonadoblastoma Overgrown by Dysgerminoma in Women with 46,XX Karyotype: A Report of Two Cases.: Mi Jung Kim, Hee Jeong Ahn, Ji Young Kim, Kyu Rae Kim; Korean J Pathol. 2003;37(1):66-70.

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Abstract PDF: Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be overgrown by more malignant germ cell neoplasms. The tumor has been reported to almost exclusively develop in various types of gonadal maldevelopment syndromes containing the Y chromosome, such as in pure or mixed gonadal dysgenesis and, less commonly, in male hermaphroditism. However, occurrences in phenotypically and chromosomally normal, menstruating women are exceptionally rare. We report two cases of gonadoblastoma overgrown by dysgerminoma occurring in the ovaries of phenotypically and cytogenetically normal menstruating women. One of the two cases showed an area composed of granulosa cell tumor-like elements. This type of combination has been very rarely described, and exemplified that gonadoblastoma may progress to sex cord-stromal tumors as well as to the malignant germ cell tumors.

Original Articles

Diagnostic Accuracy of Fine Needle Aspiration Cytology in Thyroid Lesions: Analysis of Histologically Confirmed 153 Cases.: Kyeong Mee Park, Ill Hyang Ko; Korean J Cytopathol. 1996;7(2):122-133.

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Abstract PDF: This is a retrospective review of fine-needle aspiration cytology(FNAC) smears of 153 cases of thyroid disease performed during August 1989 to July 1995, which were confirmed histologically following surgical operations. FNAC results showed 63 cases(41.2%) of adenomatous goiter, 45 cases(29.4%) of papillary carcinoma, 29 cases(19.0%) of follicular neoplasm, 4 cases(2.6%) of follicular variant of papillary carcinoma, 4 cases(2.6%) of Hashimoto's thyroiditis, 4 cases(2.6%) of Hurthle cell neoplasm, 2 cases(1.3%) of medullary carcinoma and one case(O.7%) each of subacute thyroiditis and of anaplastic carcinoma. The overall accuracy of cytological diagnosis was 83.7%. These data strongly suggest thyroid FNAC is a reliable preoperative diagnostic tool, but FNAC has been less valuable in the diagnosis of follicular lesions than any other disease of the thyroid. Adenomatous goiter was not infrequently interpreted as follicular neoplasia that requires surgery for diagnostic .conformation and vice versa. The following findings are considered to be compatible with follicular neoplasm: 1) microfolticles, 2) nuclear grooving, 3) irregularity of nuclear membrane, and 4) irregular arrangement or crowding of follicular cells in groups. The FNAC criteria of adenomatous goiter are as follows: 1) atrophic follicular cells, 2) presence of macrophages, 3) abundant colloid, and 4) large follicles. It is recommended that aspiration of thyroid lesions in order to analyse with critical clinico pathological approach and surgery is considered only for nodules that are clinically suspicious or unresponsive to hormone therapy or when a diagnosis of follicular neoplasm is made.

Cytologic Features of Intracranial Germ Cell Tumors in Crush Preparation.: Hyunee Yim, Jung Sun Kim, Chul Shim; Korean J Cytopathol. 1996;7(2):177-184.

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Abstract PDF: Intraoperative cytologic examination of intracranial tumors using crush preparation provides useful information in operative decision making. The diminutive nature of many biopsy specimens, particularly those obtained by stereotactic neurosurgical procedures emphasizes the importance of combining the cytologic smear method with conventional frozen section interpretation. The great advantage of the cytologic smear method resides in its suitability for the study of minute fragments of tissue, allowing retention of the majority of the specimen for optimal processing. We present the cytologic features of 3 cases of intracranial germ cell tumors(2 germinomas and 1 endodermal sinus tumor), using crush preparation during intrao perative diagnosis and compare them with histologic findings. The cytologic features of the germ cell tumors were similar to those of the respective gonadal counterparts. The cytologic differential diagnosis of both types of germ cell tumors is described.

Case Reports

Metastatic Germinoma of Spleen from Perichiasmal Area: A Case Report .: Bong Kyung Shin, Min Kyung Kim, Han Kyeom Kim, Yang Seok Chae, Nam Hee Won, Insun Kim; Korean J Cytopathol. 2001;12(1):61-65.

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Abstract PDF: A 20-year-old young man who had undergone treatment for a suprasellar/perichiasmal tumor 2 years before, was presented with a huge palpable splenic mass. A fine needle aspiration cytology from the splenic mass showed dissociated large pleomorphic tumor cells having irregular nuclear outline, coarse chromatin, and one or two macronucleoli, and scattered small lymphocytes in fine granular background. Above cytologic findings were regarded as the characteristics of germinoma. Differential diagnosis from the large cell lymphoma of spleen was emphasized.

Pigmented Trichogerminoma: A Case Report.: Jung Ha Shin, Ji Han Jung, Jinyoung Yoo, Seok Jin Kang, Kyo Young Lee; Korean J Pathol. 2007;41(3):187-189.

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Abstract PDF: Trichogerminoma is a rare cutaneous adnexal tumor that dysplays differentiation toward the hair germ epithelium. This tumor was first described by Sau et al. in 1992 and it is characterized by densely packed round nests or cell balls resembling hair bulbs. Herein, we report on a deeply pigmented and sharply circumscribed nodular tumor that was excised on the abdomen of a 48-year-old woman. Histologically the tumor involved both dermis and subcutis without any epidermal connection. The main nodule was subdivided into the smaller lobules by fibrous stroma. The lobules were composed of masses of basaloid cells that displayed peripheral palisading. Within the lobules, the basaloid cells formed numerous cell balls. The tumor presented the characteristic features of trichogerminoma. Interestingly, our case was the pigmented type, which was remarkable by virtue of the heavy melanin deposits found within and around the tumor nests. To the best of our knowledge, this is the first case of pigmented trichogerminoma that has been reported worldwide.

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