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Case Study
Alveolar Soft Part Sarcoma of the Uterine Cervix: A Case Report and Review of the Literature
Hyun Ju Lee
Korean J Pathol. 2014;48(5):361-365.   Published online October 27, 2014
DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.5.361
  • 10,162 View
  • 64 Download
  • 11 Crossref
AbstractAbstract PDF
Alveolar soft part sarcoma (ASPS) of the uterine cervix is a rare malignancy, and 21 cases have been reported the literature from every language (including our case). Herein, we describe a 17-yearold female patient who presented with active vaginal bleeding. Pelvic examination revealed a 1.6 ×1.0×0.5-cm-sized soft mass protruding from the uterine cervix. The final pathological diagnosis was ASPS of the uterine cervix. Immunohistochemically, tumor cells were strongly nuclear positive for transcription factor E3. The patient remained disease free for 24 months without adjuvant therapy. The prognosis of ASPS in the cervix is considerably better than that of ASPS in soft tissues due to early clinical detection, small size, and resectability. ASPS should be considered in the differential diagnosis of an unusual epithelioid neoplasm showing organoid appearance with mild cytologic atypia and no/rare mitotic figures, particularly in young women. Pathologists should be aware of those unusual locations where ASPS may originate.

Citations

Citations to this article as recorded by  
  • A rare case of Alveolar Soft-Part Sarcoma in the Uterine cervix
    Mei Du, Yanli Li, Xiaorong Fan, Han Gao, Jie Shi, Shiyu Cheng, Tingzhu Meng
    Diagnostic Pathology.2025;[Epub]     CrossRef
  • Primary Uterine Alveolar Soft Part Sarcoma in a Postmenopausal Woman: Histopathologic and Immunohistochemical Characteristics of a Rare Case
    Anjali Gupta, Parikshaa Gupta, Amarjot Kaur, Snigdha Kumari, Gupta Nalini, Shalini Gainder
    International Journal of Surgical Pathology.2024; 32(6): 1165.     CrossRef
  • Alveolar Soft Part Sarcoma in the Female Genital Tract: Case Series with Literature Review and SEER Database Analysis
    Xingtao Long, Qingming Jiang, Rengui Li, Dong Wang, Dongling Zou
    International Journal of Women's Health.2024; Volume 16: 17.     CrossRef
  • Alveolar soft part sarcoma: a clinicopathological and immunohistochemical analysis of 26 cases emphasizing risk factors and prognosis
    Yi Zhang, Yuchen Huang, Yanzi Qin, Ningning Yang, Panpan Yang, Nan Li, Zhenzhong Feng
    Diagnostic Pathology.2024;[Epub]     CrossRef
  • Epithelioid and clear‐cell variant of Kaposi sarcoma: A rare histopathologic subtype
    Kaitlyn M. Yim, Tom Liang, Esteban Gnass, Brittney DeClerck
    Journal of Cutaneous Pathology.2022; 49(4): 381.     CrossRef
  • A Case of TFE3-positive Non-neoplastic Pseudodecidualized Endometrium Presenting as a Cervical Mass
    Serenella Serinelli, Dana Hariri, Gustavo de la Roza, Daniel J. Zaccarini
    Applied Immunohistochemistry & Molecular Morphology.2022; 30(6): e50.     CrossRef
  • Alveolar Soft Part Sarcoma of the Uterus: Clinicopathological and Molecular Characteristics
    Yurimi Lee, Kiyong Na, Ha Young Woo, Hyun-Soo Kim
    Diagnostics.2022; 12(5): 1102.     CrossRef
  • Alveolar soft part sarcoma in childhood and adolescence: Report of three cases and review of literature
    Yudi Zhang, Ying Wang, Hao Wang, Chuan Wen, Xiaochuan Wu
    Frontiers in Pediatrics.2022;[Epub]     CrossRef
  • Exploring the Histogenesis and Diagnostic Strategy Using Immunoassay and RT-PCR in Alveolar Soft Part Sarcoma
    Xinxin Ju, Kunming Sun, Ruixue Liu, Shugang Li, Gulinaer Abulajiang, Hong Zou, Jiaojiao Lan, Yan Ren, Jinfang Jiang, Weihua Liang, Lijuan Pang, Feng Li
    Pathology & Oncology Research.2018; 24(3): 593.     CrossRef
  • Alveolar Soft Part Sarcoma of the Female Genital Tract
    J. Kenneth Schoolmeester, Joseph Carlson, Gary L. Keeney, Karen J. Fritchie, Esther Oliva, Robert H. Young, Marisa R. Nucci
    American Journal of Surgical Pathology.2017; 41(5): 622.     CrossRef
  • Recurrent alveolar soft part sarcoma of the uterine cervix
    Aeli Ryu, Seong Taek Mun, Hyun Ju Lee, Nan-Seol Kim
    Journal of Obstetrics and Gynaecology.2017; 37(8): 1099.     CrossRef
Original Article
Cytologic Study of Thymoma.
Gu Kong, Se Jin Jang, Jung Dal Lee
J Pathol Transl Med. 1990;1(1):36-42.
  • 2,024 View
  • 17 Download
AbstractAbstract PDF
The fluoroscopy-guided fine needle aspiration biopsy has been gaining widespread acceptance as a rapid and effective method to make a pre-operative diagnosis of mediastinal tumors including thymoma, malignant lymphoma, and metastatic carcinoma. Although thymoma is a most common tumor of the superior mediastinum, most cytopathologists are not experted in cytologic diagnosis of this tumor because of limited experience. In order to define the diagnostic cytologic features of thymoma, we have retrospectively reviewed imprinting smears and corresponding tissue sections from four cases of this tumor. All cases revealed an apparent biphasic pattern of epithelial cell clusters and lymphocytes with occasional branching capillary fronds extending from three dimensional epithelial cell clusters. Epithelial cell clusters predominated in one case and lymphocytes in two cases. Mixed epithelial cell and lymphocyte type represented in one of four cases. In the lymphocyte predominant type, the presence of epithelial cell clusters and small mature lymphocytes are helpful features to differentiate from a malignent lymphoma.
Case Reports
Imprint Cytology of Hepatic Angiomyolipoma: A Case Report.
Ae Ri Kim, Hong Jin Kim, Joon Hyuk Choi
J Pathol Transl Med. 2008;19(2):188-193.
DOI: https://doi.org/10.3338/kjc.2008.19.2.188
  • 3,222 View
  • 24 Download
  • 2 Crossref
AbstractAbstract PDF
Angiomyolipoma of the liver is a rare benign tumor that's composed of variable mixtures of adipose tissue, smooth muscle and thick-walled blood vessels. We report here on the imprint cytologic features of a hepatic angiomyolipoma in a 47-year-old man. The smears showed spindle and epithelioid tumor cells in clusters, trabeculae and single cells. The spindle cells had elongated, cigar-shaped nuclei with finely granular chromatin and fibrillary cytoplasm. The epithelioid cells had round nuclei with a moderate amount of cytoplasm. Any adipose tissue was not found. Immunohistochemically, both the spindle and epithelioid cells revealed cytoplasmic positivity for smooth muscle actin and HMB-45.

Citations

Citations to this article as recorded by  
  • Hepatic Angiomyolipoma with Variable Histologic Features: 8 Cases Resembling Hepatocellular Carcinoma or Inflammatory Pseudotumor
    Ilseon Hwang, Eunsil Yu, Kyung-Ja Cho
    The Korean Journal of Gastroenterology.2012; 60(4): 242.     CrossRef
  • Hepatic epithelioid angiomyolipoma with trabecular growth pattern: A mimic of hepatocellular carcinoma on fine needle aspiration cytology
    Linjun Xie, Jose Jessurun, J. Carlos Manivel, Stefan E. Pambuccian
    Diagnostic Cytopathology.2012; 40(7): 639.     CrossRef
Touch Imprint and Fine Needle Aspiration Cytology of Giant Cell Tumor of Tendon Sheath: A Case Report.
Jong Im Lee
J Pathol Transl Med. 2008;19(1):57-64.
DOI: https://doi.org/10.3338/kjc.2008.19.1.57
  • 3,469 View
  • 17 Download
AbstractAbstract PDF
Giant cell tumor of the tendon sheath (GCTTS) is a slowly growing, benign soft tissue tumor. The tumors occur predominantly on the hands and feet. Although the clinical and histopathologic features are well-defined, only a few reports have described the cytologic appearance of this entity. A 26-year-old woman presented with a gradually developing circumscribed soft tissue mass near the proximal phalanx of her left little finger for one year. Imprint and fine needle aspiration (FNA) smears were obtained from the excisional biopsy specimen. The imprint smears were composed of predominantly singly dispersed bland mononuclear cells and several giant cells. The mononuclear cells were polygonal to round, and they showed a histiocyte-like appearance. Osteoclast-type multinucleated giant cells of various sizes were randomly scattered throughout the smears, and these cells contained 3 to 50 nuclei. Nuclear atypia and pleomorphism were absent in both the single and giant cells. Loose aggregates of hemosiderin-laden macrophages and binuclear stromal cells were also seen. The cytologic features of the FNA smears were similar with those of the imprint. Additionally, the FNA smears contained several clumps of densely collagenous stromal tissue that were seldom noted in previously reported cytologic material. The cytologic features were well-correlated with the concurrent histologic findings and the diagnosis of GCTTS was made. When the clinical and radiologic datas are integrated, the diagnosis of GCTTS can be strongly suggested, based on the pre-operative cytologic specimen.
Touch Imprint Cytology of Adenomatoid Tumor of the Tunica Albuginea: A Case Report.
Jong Im Lee
J Pathol Transl Med. 2008;19(1):47-51.
DOI: https://doi.org/10.3338/kjc.2008.19.1.47
  • 2,927 View
  • 14 Download
  • 2 Crossref
AbstractAbstract PDF
Adenomatoid tumor is a benign neoplasm of a mesothelial origin, and it usually occurs in the reproductive organs, especially in the epididymis. The author experienced a case of adenomatoid tumor involving the tunica albuginea and testicular parenchyme without any evidence of epididymis involvement. The patient was a 36-year-old man with a painless scrotal mass that he had experienced for 2 months, and this mimicked testicular neoplasia, including metastatic carcinoma, or other benign lesions. The imprint cytology of the tumor showed a hypocellular smear with mainly arranged cells in cohesive monolayered clusters along with occasional singly dispersed cells and naked nuclei in a clean background. The cellular clusters formed vague glandular and cord-like structures. The tumor cells were large polygonal to columnar cells with a relatively monomorphic appearance. The nuclei were oval to round shape and they showed vesicular, fine chromatin and inconspicuous nucleoli. The cytoplasm was moderate to abundant, and it contained fine vacuoles in some tumor cells. Mitoses and cellular pleomorphism were not present. Awareness of the cytologic finding of this lesion is necessary to screen or differentiate a testicular or paratesticular mass before and/or during surgery because the cytology may be useful as a diagnostic tool. Pathologists should be aware of the cytologic features of common lesions in this anatomic region so as to avoid performing aggressive and unnecessary surgical procedures.

Citations

Citations to this article as recorded by  
  • Adenomatoid Tumor of the Tunica Albuginea in a Boy: A Case Report and Literature Review
    Kaimin Guo, Runhui Tian, Lingyun Liu, Congqi Du, Fubiao Li, Hongliang Wang
    Case Reports in Urology.2015; 2015: 1.     CrossRef
  • Aspiration cytology of adenomatoid tumor of epididymis: An important diagnostic tool
    S. Gupta, S. Garg, R. Agarwal, R. Sen
    Journal of Surgical Case Reports.2012; 2012(4): 11.     CrossRef
Original Article
The Significance of Nuclear Size in Nuclear Grade of Invasive Ductal Carcinoma of the Breast.
Young Kyung Bae, Dong Sug Kim, Hye Jung Choi, Mi Jin Gu, Soo Jung Lee, Jea Young Lee
J Pathol Transl Med. 1999;10(1):21-26.
  • 2,166 View
  • 16 Download
AbstractAbstract PDF
To make the objective standard of nuclear size in grading nuclear pleomorphism of invasive ductal carcinoma of the breast, we measured maximal nuclear diameter of tumor cells on imprint cytology slides and histologic sections from 65 cases by using computer-based image analysis system(Optimas 6.0). The maximal diameter of red blood cells were also measured to evaluate the ratio of maximal nuclear diameter of tumor cells to maximal diameter of red blood cells. The mean values of maximal nuclear diameter of tumor cells on imprint cytology slides and histologic sections were 7.56 micrometer, 7.53 micrometer in nuclear grade 1, 8.92+/-0.98 micrometer, 9.02+/-0.74 micrometer in nuclear grade 2, and 12.90+/-1.47 micrometer, 12.44+/-1.41 micrometer in nuclear grade 3, respectively. There were no significant differences between values of imprint cytology and histologic section. The ratio of maximal nuclear diameter of tumor cells to maximal diameter of red blood cells were 1.3-1.4:1 in nuclear grade 1, 1.6-1.7:1 in nuclear grade 2, and 2.2-2.3:1 in nuclear grade 3. These values would be guidelines for grading nuclear pleomorphism of invasive ductal carcinoma of the breast on routine surgical pathology work.
Case Report
Imprint Cytologic Features of Fibroadenoma of the Breast with Extensive Infarction: A Case Report .
Suk Jin Choi, Jong Im Lee, Jung Ran Kim, Tae Jung Jang, Ki Kwon Kim, Dong Hoon Kim, Byoung Ook Jeoung
J Pathol Transl Med. 1999;10(2):169-174.
  • 2,100 View
  • 25 Download
AbstractAbstract PDF
Spontaneous Infarction of fibroadenoma of the breast is very uncommon and may lead to difficulties in clinical and pathological diagnosis. Most reported cases occured in young women during pregnancy or lactation. This report describes imprint cytologic features of an infarcted fibroadenoma in a 19-year-old young woman without evidence of pregnancy. The smears revealed many individually scattered degenerated or necrotic epithelial or spindle stromal cells and naked nuclei on dirty necrotic background. A few sheets of cohesive uniform epithelial cells and a few fragments of stromal cells were also present. Most of the epithelial cells had pyknotic and hyperchromatic nuclei, however, cellular atypism such as pleomorphism, prominent nucleoli or mitosis were not present. Though the necrotic ductular and glandular outline of this case may bear a superficial resemblance to adenocarcinoma, obvious cytologic atypia or mitosis, even in the necrotic areas, were not present.
Original Articles
Imprint Cytologic Feature of Extraskeletal Osteosarcoma: A Case Report.
Mi Jin Gu, Young Kyung Bae, Mi Jin Kim, Joon Hyuk Choi, Won Hee Choi
J Pathol Transl Med. 2000;11(1):59-63.
  • 2,085 View
  • 18 Download
AbstractAbstract PDF
Extraskeletal osteosarcoma is an uncommon tumor originated from soft tissue without evidence of skeletal involvement. It usually affects adults and its common locations are extremity, buttock, and retroperitoneum. Although the histologic feature of this tumor is well known, there have been few reports on the fine needle aspiration cytologic findings. We report the imprint cytologic feature of extraskeletal osteosarcoma. The patient was a 49-year-old man with a mass of the left anterior chest for 2 years. On the imprint preparation, the smears showed malignant round, polygonal or spindle cells with coarsely clumped chromatin and occasionally prominent nucleoli. The malignant cells occur singly, in clusters, or associated with amorphous eosinophilic osteoid. Mitotic figures are also seen.
Morphometric Analysis of Malignant Lymphoma.
In Sook Kim, Eun Kyung Hong, Jong Dal Lee
Korean J Pathol. 1990;24(2):128-136.
  • 1,970 View
  • 15 Download
AbstractAbstract PDF
Nuclear morphology and size are important in the diagnosis and classification of non-Hodgkin's lymphoma. The recognition of morphologic features of the lymphoma cells and their interpretation are somewhat subjective and often difficult. We apply the morphometric study in touch imprints from 22 cases of non-Hodgkin's lymphoma classified by Working formulation. Determination of the exact size of the tumor cells and substantial diagnostic value of this method compared with histology are proposed. Morphometric parameters, including nuclear area, perimeter, maximal diameter (D-max), diameter of an equivalent circle for a measured area (D-circle), circularity factor (From PE) and regularity factor (Form AR) are measured, using Kontron, user-controlled image analyser (IBAS-1). The correlation between morphometric and histologic diagnosis is relatively good, except for 2 cases of Burkitt's lymphoma, measured as large cell and 2 cases of large cell lymphoma measured as medium cell. The most reliable parameter of the nuclear size is D-circle. The parameters for the nuclear shape, Form PE and Form AR, also reflect the nuclear cleavage and polymorphous pattern. The large cell group shows more wide standard deviation than small and medium cell groups, reflecting heterogeneity and variability in unclear size of large cell group. We suggests the morphometric analysis using touch imprints is complementary diagnostic tool for more accurate and reproducible diagnosis.
Case Reports
Imprint Cytologic Feature of Pleuropulmonary Blastoma: A Case Report .
Mee Sook Roh, Ji Young Seo, Gi Yeong Huh, Pill Jo Choi, Sook Hee Hong, Jin Sook Jeong
J Pathol Transl Med. 2001;12(1):39-43.
  • 1,859 View
  • 18 Download
AbstractAbstract PDF
Pleuropulmonary blastoma (PPB) is an unusual intrathoracic blastoma presenting in childhood and characterized by a biphasic neoplastic population of undifferentiated, small round blastemal cells and larger spindle-shaped sarcomatous cells with entrapped benign epithelial-lined structures. We experienced the cytologic features of PPB in imprint smear from the pleural-based huge mass of the middle lobe of the right lung in a 4-year-old boy. The smears showed high cellularity composed of small ovoid blastemal elements and scattered spindle mesenchymal tumor cells. Lobectomy and pathologic investigation confirmed the diagnosis. PPB seems to be a tumor in which accurate diagnosis may be achieved by cytology if appropriate clinical information were given. Timely and accurate diagnosis of PPB by cytology paves the way for attempting preoperative treatment in future cases.
Imprint Cytologic Features of Poorly Differentiated Synovial Sarcoma: A Case Report.
Mi Jin Gu, Joon Hyuk Choi, Young Kyung Bae
J Pathol Transl Med. 2003;14(1):27-31.
  • 2,218 View
  • 16 Download
AbstractAbstract PDF
Poorly differentiated synovial sarcoma is a variant of synovial sarcoma. We report a case of poorly differentiated synovial sarcoma imprinted after resection. The patient was a 47-year-old woman with a right shoulder pain for 6 months. The cytologic features showed malignant round to oval, monotonous tumor cells with high nuclear to cytoplasmic ratio. Some tumor cells showed perivascular distribution and nuclear molding. Vague rosette-like structures were seen. On immunohistchemical stains, tumor cells were diffusely positive for CD99 and focally positive for epithelial membrane antigen. Ultrastructural examination showed desmosomes and microvilli.
Imprint Cytologic Features of Epithelioid Sarcoma: A Case Report.
Young Ran Shim, Joon Hyuk Choi
J Pathol Transl Med. 2004;15(1):65-69.
  • 1,751 View
  • 12 Download
AbstractAbstract PDF
Epithelioid sarcoma is a malignant soft tissue neoplasm with an uncertain histogenesis. We report the imprint cytologic features of epithelioid sarcoma in the left shoulder of a 29-year-old male patient. Imprint cytologic findings showed dissociated and loose aggregates of anaplastic epithelioid cells on the necrotic, bloody, and inflammatory background. Tumor cells were round to polygonal shaped. Tumor cells had vesicular nuclei with abundant cytoplasm. The nuclei were irregular in shape and often eccentrically located. Some tumor cells were oval to spindle shaped. Binucleated and multinucleated cells were found. Intracytoplasmic vacuoles were present. On immunohistochemical stain, the tumor cells were positive for epithelial membrane antigen, vimentin, and CD34.
Original Article
p 53 Protein Expression in Imprint Cytology of Breast Carcinoma.
Dong Sug Kim, Eun Hi Lee, Ki Kwon Kim, Mi Jin Kim, Soo Jung Lee
J Pathol Transl Med. 1995;6(1):1-9.
  • 1,803 View
  • 11 Download
AbstractAbstract PDF
This study was carried out to determine the usefulness of imprint cytology for detecting p 53 protein in breast carcinoma. NCL-DO7(Novocastra, U.K.) was used to detect p53 protein immunocytochemically. A total of 33 cases was studied. Immunostaining of imprint cytology with NCL-DO7 was positive in 64%(21\33) and showed relatively high coincident rate (80 %) with immunostaining of formalin-fixed, paraffin - embedded specimen. p 53 protein was related to negative estrogen receptor status, but not to the nuclear grade, lymph node metastasis, or tumor size. The fact that p53 protein expression was not related to nuclear grade might be due to predominance of nuclear grade 3. It was easier to determine the nuclear grade is one of the most important prognostic factors, in imprint cytology than in tissue specimen. p53 protein tended to be stained more strongly in imprint cytology than in tissue.
Case Reports
Touch Imprint Cytology Contributed to the Frozen Section Diagnosis of Merkel Cell Carcinoma : A Case Report.
Changyoung Yoo, Youn Soo Lee, Joo Wan Park, Suk Kang Chang, Sang In Shim, Gyeong Sin Park, Kyo Young Lee
J Pathol Transl Med. 2006;17(2):143-147.
  • 2,567 View
  • 27 Download
AbstractAbstract PDF
Merkel cell carcinoma (MCC), a rare primary cutaneous small cell neuroendocrine carcinoma, is a tumor with distinct cytological features. In many cases, immunohistochemical staining (IHC) is required for the differentiation from other small round cell malignancies. Here we describe the cytological findings of Merkel cell carcinoma; these findings contributed to the diagnosis prior to performing IHC. A lower eyelid mass was excised and submitted for frozen section diagnosis. The frozen section diagnosis was consistent with a malignancy, but the more specific diagnosis was limited by the lack of specific histological features. Touch imprint cytology revealed a high cellularity with loosely cohesive small to large sized cells. The tumor cells showed hyperchromatic nuclei with fine chromatin and inconspicuous nucleoli, and thin-rimmed-cytoplasm including the characteristic eosinophilic button-like paranuclear inclusion, previously described as a pathognomonic cytological finding of MCC; this was not found in the H&E frozen section. In conclusion, we suggest that the touch imprint cytology may help in the differential diagnosis of small round cell neoplasms prior to performing IHC especially in frozen section diagnosis.
Imprint Cytology of a Desmoplastic Small Round Cell Tumor: A Case Report.
Joon Hyuk Choi, Yong Jin Kim, Jae Hwang Kim
J Pathol Transl Med. 2007;18(1):81-86.
  • 2,203 View
  • 22 Download
AbstractAbstract PDF
Desmoplastic small round cell tumor (DSRCT) is a rare malignant mesenchymal neoplasm. It mainly involves the abdominal or pelvic peritoneum of male adolescents. We report here the imprint cytologic features of a case of DSRCT occurring in the intraabdominal cavity of a 21-year-old man. A microscopic examination showed moderate cellularity. The tumor cells were singly arranged and arranged in clusters. The cells had round to oval nuclei with finely granular chromatin, inconspicuous nucleoli and scanty cytoplasm. Some tumor cells showed nuclear molding, and some cells had an epitheloid appearance with a large amount of lightly eosinophilic cytoplasm. A rosette-like pattern was present. Spindle-shaped, fibroblastic stromal cells were occasionally found. The tumor cells were immunoreactive for the markers cytokeratin (AE1/AE3), epithelial membrane antigen (EMA), desmin, vimentin and neuron specific enolase (NSE).
Imprint Cytology of Granular Cell Tumor: A Case Report.
Woo Jung Sung, Joon Hyuk Choi
J Pathol Transl Med. 2007;18(2):170-174.
  • 2,047 View
  • 21 Download
AbstractAbstract PDF
Granular cell tumor is a rare tumor of the soft tissue and this is characterized by proliferation of large cells with granular appearing eosinophilic cytoplasm. We report the imprint cytologic features of a case of granular cell tumor in the left calf of a 52-year-old woman. Microscopic examination showed moderate cellularity. The tumor cells were arranged both as single cells and in clusters. The cells were large polygonal-shaped and they had small round nuclei with finely granular chromatin and occasionally conspicuous nucleoli. The cytoplasm was abundant eosinophilic and granular. Naked nuclei and spindle-shaped tumor cells were occasionally noted. No mitosis and necrosis were present. The background showed cytoplasmic granular materials. The tumor cells showed positivity for S-100 protein. Ultrastructurally, abundant lysosomes were present in the cytoplasm of the tumor cells.
Original Article
Methylation Patterns of Small Nuclear Ribonucleoprotein Polypeptide N (SNRPN) Related to the Germ Cell Differentiation of Human Germ Cell Tumors.
Sun Young Jun, Kyu Rae Kim, Jene Choi, Jae Y Ro
Korean J Pathol. 2007;41(1):21-29.
  • 2,113 View
  • 20 Download
AbstractAbstract PDF
BACKGROUND
The histogenesis and interrelationship of the various types of germ cell tumors (GCTs) have been proposed. Dysgerminoma/seminoma (D/S) is a primitive GCT that has not acquired the potential for further differentiation, whereas other types of GCTs are in a dynamic process of differentiation towards a somatic or extraembryonal direction. A primordial germ cell giving rise to a GCT undergoes a developmentally regulated erasure and resetting of imprinted genes, but changes in the imprinting pattern in GCTs as the tumor differentiates have not been well defined. We aimed to investigate the changes of the SNRPN methylation pattern between the germinomas and non-germinomatous GCTs, as compared with the somatic methylation pattern.
METHODS
We used formalin-fixed paraffin-embedded tissue sections of 97 GCTs (18 Ds, 21 Ss, 17 yolk sac tumors (YSTs), 19 immature teratomas, and 22 mature teratomas). DNA methylation was evaluated after bisulfite modification, PCR amplification, and restriction enzyme digestion.
RESULTS
The SNRPN methylation pattern was changed in 53/74 (71.6%) of GCTs as non-somatic patterns. There were significant differences in the methylation pattern between the germinomas and non-germinomatous GCTs, the GCTs being frequently hypo- methylated in Ds/Ss (73.3%), in contrast to the frequent hypermethylation seen in the YSTs and teratomas (47.7%, p<0.05).
CONCLUSIONS
The methylation status of an imprinting gene may be involved in the mechanism causing cellular differentiation and tumorigenesis of GCTs.

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