Journal of Pathology and Translational Medicine

Case Reports

Cytologic Features of Giant Cell Ependymoma: A Case Report and Review of the Literature: Myoung Ju Koh, Sun Och Yoon, Hyae Min Jeon, Hyeon Joo Jeong, Soon Won Hong, Se Hoon Kim; Korean J Pathol. 2012;46(5):507-513. Published online October 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.5.507

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Here, we present a case of anaplastic giant cell ependymoma (GCE) occurring in a 15-year-old woman. Squash smear slides for intraoperative frozen section diagnosis revealed oval to round cell clusters with a papillary structure in a fibrillary background. This was occasionally accompanied by the presence of bizarre pleomorphic giant cells with hyperchromatic nuclei and prominent intranuclear inclusions. These intranuclear inclusions were a key clue to diagnosis of ependymoma. Histologic analysis revealed features of a high-grade tumor with perivascular pseudorosettes and bizarre pleomorphic giant cells, which established the diagnosis of GCE. We performed a review of literatures about the cytologic features of GCE, including our case, thus proposing that intraoperative frozen diagnosis of GCE would be established by squash smear preparations featuring the mitosis and necrosis, as well as the high cellularity, and the presence of giant cells showing hyperchromatic nuclei with eosinophilic cytoplasm and intranuclear inclusions/pseudoinclusions.

Citations

Citations to this article as recorded by

A case of myxopapillary ependymoma with predominant giant cell morphology: A rare entity with comprehensive genomic profiling and review of literature
Bryan Morales‐Vargas, Hassan Saad, Daniel Refai, Matthew Schniederjan, Zied Abdullaev, Kenneth Aldape, Malak Abedalthagafi
Neuropathology.2025; 45(1): 13. CrossRef
Report of a case of giant cell ependymoma with unusual clinical and pathological presentation
Mónica B. Mezmezian, Victor Del Caño, Liliana G. Olvi
Neuropathology.2019; 39(4): 313. CrossRef
Giant Cell Ependymoma of Cervicomedullary Junction: A Case Report of a Long-Term Survivor and Literature Review
Martina Cappelletti, Andrea G. Ruggeri, Giorgia Iacopino, Roberto Delfini
World Neurosurgery.2018; 116: 121. CrossRef
Immunohistochemical features of giant cell ependymoma of the filum terminale with unusual clinical and radiological presentation
Fernando Candanedo-Gonzalez, Cindy Sharon Ortiz-Arce, Samuel Rosales-Perez, Ana Lilia Remirez-Castellanos, Candelaria Cordova-Uscanga, Armando Gamboa-Dominguez
Diagnostic Pathology.2017;[Epub] CrossRef
Giant Cell Ependymoma of Lateral Ventricle: Case Report, Literature Review, and Analysis of Prognostic Factors and Genetic Profile
Hirokazu Takami, Christopher S. Graffeo, Avital Perry, Aditya Raghunathan, Robert B. Jenkins, Caterina Giannini, Terry C. Burns
World Neurosurgery.2017; 108: 997.e9. CrossRef

The Cytologic Features of Desmoplastic Small Round Cell Tumor with Intranuclear Inclusions : A Case Report .: Ho Chang Lee, Hye Suk Han, Ok Jun Lee; Korean J Pathol. 2009;43(3):279-284.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.3.279

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Abstract PDF: Desmoplastic small round cell tumor (DSRCT) is a rare neoplasm of young adults and it is characterized by polyphenotypic differentiation. We experienced a case of abdominal DSRCT that occurred in a 19-year-old female who presented with painful swelling of her right forearm. The tumor was cytokeratin-negative and it exhibited some tumor cells with intranuclear inclusions. Molecular demonstration of EWS-WT1 fusion transcripts is particularly useful to confirm the diagnosis of DSRCT without epithelial differentiation. We report here on a case of cytokeratin-negative DSRCT that showed an unusual feature of intranuclear inclusions.

Malignant Rhabdoid Tumor of the Kidney in an Adult: A case report.: Sang Yong Lee, Dae Cheol Kim, Seo Hee Rha, Sook Hee Hong; Korean J Pathol. 1996;30(6):539-543.

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Abstract PDF: Malignant rhabdoid tumor is a distinct renal tumor in pediatric age group and extremely rare in adults. It was originally described as a rhabdomyosarcomatoid variant of Wilms' tumor. But subsequent studies failed to confirm myogenous differentiation, so the rhabdoid tumor is now considered to be a distinct and unique disease type of highly malignant renal tumor, histogenetically unrelated to Wilms' tumor. However the histogenesis have not been clearly defined until now. We report a case of malignant rhabdoid tumor of the kidney in a 34-year-old man who represented with a left abdominal mass. Grossly, a large mass occupying most of the left kidney except for a part of upper pole was invading beyond renal capsule and the perirenal soft tissue. It measured 18x14 cm in dimension and was soft, lobulated and yellowish gray with large areas of hemorrhage and necroses. Microscopically, the tumor mass was composed of sheets of round or polygonal neoplastic cells growing in a solid pattern. These tumor cells were medium to large in size with ample cytoplasm containing recognizable eosinophilic inclusion and had an eccentrically located, large nucleus with one or a few prominent nucleoli. Mitotic figures were frequently observed. Ultrastructurally, the tumor cells contained whorled filamentous inclusions corresponding to vimentin, epithelial membrane antigen and cytokeratin in immunostaining.

Malignant Rhabdoid Tumor of the Kidney: A report of two cases: An immunohistochemical and ultrastructural study.: Seung Sam Paik, Moon Hyang Park; Korean J Pathol. 1996;30(8):706-714.

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Abstract PDF: Malignant rhabdoid tumor of the kidney(MRTK), an uncommon renal tumor found in children, is one of the most lethal neoplasms of early life. It was first recognized during a review of the first National Wilms' Tumor Study(NWTS) as an extremely aggressive neoplasm whose appearance often mimicks those of skeletal muscle tumors, but without histological, immunohistochemical, and ultrastructural markers of rhabdomyogenesis. Herein we present two cases of malignant rhabdoid tumor of the kidney, one occurring in a 6-month-old male baby, and the other in a 123-month-old girl. They presented a huge tender mass on the left upper quadrant of the abdomen. Microscopically, each case was very cellular and composed of sheets of round or polygonal cells with ample cytoplasm often containing eosinophilic filamentous inclusions and round vesicular nuclei with prominent nucleoli. Case 1 showed lymphomatoid pattern, but case 2 showed foci of several variant patterns associated with classic appearances. The tumor cells showed a strong reactivity for vimentin in both cases. Unusually, case 2 showed focal reactivity for epithelial membrane antigen(EMA), muscle specific actin, and smooth muscle actin. Ultrastructural study confirmed the presence of whorled bundles of intermediate filaments in paranuclear position, and a prominent nucleolus.

Adrenocortical Oncocytoma: A case report.: Hee Joung Cha, Yeon Lim Suh, Jung Hyun Yang; Korean J Pathol. 1999;33(6):463-466.

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Abstract PDF: Adrenal gland is a rare location for an oncocytic neoplasm. In English literature less than 10 cases of adrenocortical oncocytoma have been reported. We have experienced a case of adrenocortical oncocytoma in a 35-year-old man which was detected incidentally during the ultra-sonographic evaluation of the abdomen for a routine physical examination. This case did not demonstrate any clinical evidence of adrenocortical abnomalities, such as virilization or hypertension. Grossly, the tumor was light to dark tan on cut surface. Light-microscopic examination revealed tumor cells with abundant lipid- sparse eosinophilic cytoplasm and occasional pleomorphic nuclei. Mitotic figures were less than 5/50 HPFs. Tumor cells were positive for vimentin but negative for pancytokeratin, CAM 5.2, chromogranin and synaptophysin. Ultrastructural examination demonstrated abundant mitochondria containing occasional intramitochondrial dense bodies or inclusions.

Original Article

Microvillous Inclusion Disease: An analysis of 4 cases.: Daesu Kim, Nam Seon Beck, Yeon Lim Suh; Korean J Pathol. 2000;34(3):208-213.

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Abstract PDF: Microvillous inclusion disease (MID) or congenital microvillous atrophy is a rare cause of intractable, persistent secretory diarrhea shortly after birth or at birth. The prognosis of MID is very poor and most of the reported patients have died within 6.5 years. Diagnosis is based on the ultrastructural demonstration of intracytoplasmic inclusion of microvilli. There have been several cases reported in the literature. To evaluate the clinicopathologic features of MID, we have reviewed 4 cases of MID which was confirmed by the ultrastructural study of the duodenal biopsy. All patients suffered from life-threatening diarrhea since birth. Many other radiologic or laboratory findings were of no value in the evaluation of causative agents. One of the patients died of the disease and remaining patients have been alive on intravenous fluids or total parenteral nutrition. Histological findings of all cases were similar and characterized by varying degrees of mucosal atrophy and chronic inflammatory cell infiltration in the duodenal mucosa. PAS stain revealed a discontinuous brush border over the atrophic villous surface with or without small vacuoles in the cytoplasm of the surface epithelium. Ultrastructural changes were found mainly in the surface epithelium of the duodenal mucosa and characterized by the presence of membrane bound inclusions lined by intact or degenerating microvilli, as well as degeneration of surface epithelial cells with loss of microvilli, or with sparse, short microvilli.

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; Korean J Cytopathol. 2006;17(2):143-147.

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Abstract 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.

Juxtacortical Glomus Tumor of the Tibia with an Uncertain Malignant Potential.: Dae Woon Eom, Gil Hyun Kang, Hee Jin Lee, Soo Jung Choi, Jae kwang Hwang; Korean J Pathol. 2008;42(3):181-184.

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Abstract PDF: Glomus tumors are mesenchymal neoplasms that are composed of modified smooth muscle cells of the normal glomus body. Most glomus tumors are benign and they occur in the distal extremities, and particularly the subungual lesions that occur in the hand, the wrist and the foot. We report here on a case of a solid type glomus tumor that had an uncertain malignant potential with a juxtacortical location at the distal tibia, and there were no neoplastic erosion of the cortical surface and no periosteal reaction. The tumor cells showed mild nuclear atypia and moderate mitotic activity (3-5/10HPF). Prominent intranuclear cytoplasmic pseudoinclusions were also observed. This case is interesting due to the very unusual tumor location of the juxtacortical area of the long bone, the atypical histologic features and the unique cytological finding of cytoplasmic intranuclear inclusions throughout the tumor cells.

Multiple Glomus Tumors of the Ankle with Prominent Intranuclear Pseudoinclusions.: Jae Yeon Seok, Se Hoon Kim, Tae jung Kwon, Jieun Kwon, Yoon Hee Lee, Kyoo Ho Shin, Woo Ick Yang; Korean J Pathol. 2007;41(5):337-342.

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Abstract PDF: Glomus tumors are neoplasms that are composed of modified smooth muscle cells of the glomus body. Here, we report a case of multiple glomus tumors of the ankle that showed various histologic types, including the solid type (glomus tumor proper) and angiomatous type (glomangioma). The tumor cells observed in this case also showed prominent intranuclear inclusions, which has not yet been reported in glomus tumors. Ultrastructural examination demonstrated that the nuclear inclusions were not true inclusion bodies but were intranuclear cytoplasmic pseudoinclusions formed by cytoplasmic invaginations that formed as a result of the deep and complex nuclear contours.

Eosinophilic Cytoplasmic Globules in Papillary Renal Cell Carcinoma: A Case Report.: Ok Ran Shin, Jae Young Park, Hae Kyung Lee, Young Seok Lee, Chang Hee Han, Sung Hak Kang, Kyo Young Lee, Yeong Jin Choi; Korean J Pathol. 2006;40(6):466-468.

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Abstract PDF: Eosinophilic cytoplasmic globules may be seen in a variety of neoplastic and nonneoplastic conditions and are most often associated with alpha-1-antitrypsin deficiency, several pathologic liver conditions and yolk sac tumors. A few cases of eosinophilic cytoplasmic globules in renal cell carcinoma have been reported but there has only been one report of papillary type. We report another case of papillary renal cell carcinoma with eosinophilic cytoplasmic globules, which is similar to a Mallory body but with different properties.

Mesothelial Cell Inclusions Mimicking Metastatic Carcinoma in Mediastinal Lymph Node: A Case Report.: Young Min Kim, Kyu Rae Kim, Jae Y Ro; Korean J Pathol. 2004;38(1):46-49.

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Abstract PDF: The presence of benign mesothelial cell inclusions in the mediastinal lymph node is extremely rare and thus difficult for the pathologist distinguishing from sinus histiocytosis, metastatic carcinoma, or metastatic mesothelioma. We recently had a case of benign mesothelial cell inclusions in the mediastinal lymph node, which is initially misinterpreted as metastatic carcinoma of unknown origin. However, further clinical studies failed to identify the primary site. Subsequent immunostaining with calretinin demonstrated the strong nuclear and cytoplasmic immunore-activity, suggesting that these cells are mesothelial cells. It is important that when the nodal changes resemble metastatic carcinoma morphologically in the mediastinal lymph nodes, but the primary site can not be identified clinically, the possibility of mesothelial cell inclusions should be raised and the proper use of immunohistochemistry in conjunction with a clinical finding is recommended.

Secretory Meningioma: Report of 2 cases.: Dong Sug Kim, Eun Hi Lee, Young Ran Shim, Sang Pyo Kim, Oh Ryong Kim; Korean J Pathol. 1995;29(3):361-367.

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Abstract PDF: The secretary meningioma is a distinct variant of meningioma that revealed characteristic light microscopic, immunohistochemical and ultrastructural features of epithelial and secretary differentiation, which was named as a distinct subtype of meningioma by Alguacil-Garcia et al in 1986. We experienced 2 cases of secretary meningioma. One was a 53-year-old female who had suffered from sudden onset of dizziness for I day. The computerized tomography revealed a sharply marginated well enhanced mass in temporal lobe. The other was a 59-year-old female who had suffered from dizziness for 8 years. The computerized tomography revealed a well demarcated lobulated mass in petrosal ridge. In both cases, multiple hyaline inclusions were scattered in the background of meningothelial meningioma. They were PAS positive, diastase resistant, stained yellow with van Gieson, and did not stain with reticulin in contrast to Psammoma bodies. The immunohistochemistry revealed positive reaction for EMA, CEA, a-FP and cytokeratin. T'he electron microscopic study revealed interdigitation with desmosomes and abundant intracellular lumina. They were lined by numerous microvilli and filled with granular material which was composed of electron dense homogenous material, me branous material, and small membrane-bound vesicles. Microvilli were filled with electron dense material identical to the material in the lumina, and some of them were interconnected with electron dense material in the lumina. It was concluded that secretary activity of the meningothelial cells and degenerated microvilli were involved in the pathogenesis of hyaline inclusions.

Congenital Cytomegalic Inclusion Disease combined with Hydrocephalus: A case report.: Kam Rae Cho, Cheol Hee Yun, Sang Pyo Kim, Kwan Kyu Park, Eun Sook Chang, Taek Hoon Kim; Korean J Pathol. 1994;28(4):439-441.

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Abstract PDF: This is an autopsy-verifed case of the generalized cytomegalic inclusion disease occuring in a male fetus of a weeks gestation. The fetus revealed hydrocephalus and focal necrosis of brain, focal subcapsular necrosis of liver, and the typical cytomegalic inclusion cells having large acidophilic intranuclear inclusions in the liver, brain, kidney, lung, adrenal gland, pancreas and chorionic villi. Prominent extramedullary hematopoiesis was noted in the liver and kidney. Immuohistochemical staining using anti-cytomegalovirus antibody revealed intranuclear or occasionally intracytoplasmic immunoreactivity in brain, liver, pancreas, lung, kidney, and intestine.

Secretory Meningioma: A case report.: Na Hye Myung, Je G Chi; Korean J Pathol. 1993;27(1):64-68.

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Abstract PDF: Secretory meningioma is now a distinctive subtype of mostly meningotheliomatous type of meningioma, which was first defined by Alguacil-Garcia et al. It shows characteristic light-microscopic, ultrastructural, and immunohistochemical features of epithelial and secretory differentiation of meningothelial cells with accumulation of secretory material in the from of hyaline inclusions. A 38-year-old female presented with headache for about 5 months. Magnetic resonance imaging revealed a round multilobated mass, measuring 4x4x3 cm, in the right inferior frontal lobe near the skull base, with surrounding brain edema. Histologically, the tumor basically showed a pattern of meningotheliomatous meningioma but tended to deposit eosinophilic homogeneous material both in the intracellular and extracellular spaces. The shape was globular intracellularly and of variable shape and often conglomerated extracellularly. Histochemical stains revealed the material not of psammomatous but of pseudopsammomatous proteinaceous nature. On electron microscopy, there was no intracellular lumen with secretion but granular electron-dense material of variable size accumulated in the degenerated endoplasmic reticulums, suggestive of proteinaceous secretion.

Fabry's Disease: A case report of electronmicroscopy and enzyme studies.: Joon Mee Kim, Joung Ho Han, Nam Hee Won, Seung Yong Paik; Korean J Pathol. 1988;22(3):289-294.

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Abstract PDF: Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.

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