Journal of Pathology and Translational Medicine

Case Study

Pediatric granular cell tumor in the posterior wall of the larynx extending to the trachea: Jungsuk Ahn, Na Rae Kim, Yong Han Sun; J Pathol Transl Med. 2020;54(4):336-339. Published online April 15, 2020; DOI: https://doi.org/10.4132/jptm.2020.02.28

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Granular cell tumor (GCT) is a slow-growing benign neoplasm that can be found in any organ. Pediatric laryngotracheal GCT is rare. We experienced a 6-year-old boy suffering from a barking cough and symptoms of stridor and croup for one month. Head and neck computed tomography revealed a protruding mass that occluded 60% of the airway lumen. Under the impression of hemangioma or papilloma, excision revealed a submucosal non-encapsulated mass. Histologically, the mass was composed of sheets of large polyhedralshaped tumor cells containing plump eosinophilic granular cytoplasm and centrally placed, small, bland-appearing nuclei. The tumor cells were positive for S-100 protein, and voluminous eosinophilic cytoplasm was stained by diastase-resistant periodic acid-Schiff. The present report describes a unique case of a huge pediatric laryngeal GCT extending to the subglottic trachea. We also review the clinical course of pediatric laryngotracheal GCT and emphasize the importance of diagnosing GCT in children.

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Pediatric granular cell tumor of the larynx: A case report and literature review
Jing Ke, Junwei Xiong, Juhong Zhang, Haiyu Ma, Wei Yuan
Journal of Cancer Research and Therapeutics.2023; 19(4): 1070. CrossRef

Review

The Continuing Value of Ultrastructural Observation in Central Nervous System Neoplasms in Children: Na Rae Kim, Sung-Hye Park; J Pathol Transl Med. 2015;49(6):427-437. Published online October 13, 2015; DOI: https://doi.org/10.4132/jptm.2015.09.19

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Abstract PDF: Central nervous system (CNS) neoplasms are the second most common childhood malignancy after leukemia and the most common solid organ neoplasm in children. Diagnostic dilemmas with small specimens from CNS neoplasms are often the result of multifactorial etiologies such as frozen or fixation artifact, biopsy size, or lack of knowledge about rare or unfamiliar entities. Since the late 1950s, ultrastructural examination has been used in the diagnosis of CNS neoplasms, though it has largely been replaced by immunohistochemical and molecular cytogenetic studies. Nowadays, pathologic diagnosis of CNS neoplasms is achieved through intraoperative cytology, light microscopy, immunohistochemistry, and molecular cytogenetic results. However, the utility of electron microscopy (EM) in the final diagnosis of CNS neoplasms and investigation of its pathogenetic origin remains critical. Here, we reviewed the distinguishing ultrastructural features of pediatric CNS neoplasms and emphasize the continuing value of EM in the diagnosis of CNS neoplasms.

Case Studies

Recurrent Thyroid Papillary Carcinoma in Children Under Ten Years Old: Report of Two Cases and Literature Review: Byeong-Joo Noh, Ji-Youn Sung, Youn-Wha Kim, Yong-Koo Park; Korean J Pathol. 2014;48(4):297-301. Published online August 26, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.4.297

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Abstract PDF

Papillary thyroid carcinoma (PTC) in children under ten years old is very rare. To date, 18 cases of PTC in children under ten years old (including our two cases) have been reported in Korea. Here, we describe two cases of recurrent PTC with follicular variant and conventional type in an 8-year-old boy and a 7-year-old boy, respectively, and discuss clinicopathologic and molecular characteristics that differ in pediatric patients from adults.

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Extremely Well-Differentiated Papillary Thyroid Carcinoma Resembling Adenomatous Hyperplasia Can Metastasize to the Skull: A Case Report
Ju Yeon Pyo, Jisup Kim, Sung-eun Choi, Eunah Shin, Seok-Woo Yang, Cheong Soo Park, Seok-Mo Kim, SoonWon Hong
Yonsei Medical Journal.2017; 58(1): 255. CrossRef

Abdominal Fibromatosis in a Young Child: A Case Study and Review of the Literature: Hyun Hee Chu, Pyoung Han Hwang, Yeon Jun Jeong, Myoung Ja Chung; Korean J Pathol. 2013;47(5):472-476. Published online October 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.5.472

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Abstract PDF

Fibromatoses comprise many different entities of well-differentiated fibroblastic proliferation with variable collagen production and form a firm nodular mass. Abdominal fibromatosis is distinguishable from other forms of fibromatosis because of its location and its tendency to occur in women of childbearing age during or following pregnancy. Abdominal fibromatosis in children is an extremely rare condition. A 15-month-old boy presented with an abdominal wall mass that had recently increased in size. Mass excision was perfomed. The tumor was 4.3×4.1 cm and partly circumscribed. Histologically, the tumor was composed of parallel long fascicles of spindle-cells with a uniform appearance. The edges of the resected mass were infiltrative, and the surgical margins were positive. Mitotic figures were <1/10 high power fields. No cellular atypia or necrosis was present. The tumor cells were positive for vimentin and nuclear β-catenin staining.

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A rare tumor of the large bowel in a young boy
Shyam Srinivasan, Soumitra Saha
Cancer Research, Statistics, and Treatment.2021; 4(4): 752. CrossRef
Uncommon abdominal wall mass in a young boy: Desmoid tumor
Levent Cankorkmaz, Mehmet H. Atalar, H. Reyhan Eğilmez
Cumhuriyet Medical Journal.2018; : 811. CrossRef
Lesiones ocupantes de espacio en pared abdominal (no herniaria). La visión del patólogo
Isidro Machado, Julia Cruz, Javier Lavernia, Fernando Carbonell
Revista Hispanoamericana de Hernia.2015; 3(3): 85. CrossRef

Case Reports

Childhood Asymmetry Labium Majus Enlargement.: Mi Jin Gu, Sang Yoon Kim; Korean J Pathol. 2011;45(5):529-531.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.5.529

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Abstract PDF

Childhood asymmetry labium majus enlargement (CALME) is a disctinctive clinicopathologic entity of pre- and early puberty first described in 2005. It is defined as an expansion of normal soft tissues of the vulva. Although CALME is not a rare lesion, it has been called lipoma, fibroma, hamartoma, and fibrous hyperplasia. CALME is not a true neoplasm and is a physiologic growth in response to hormone. It may tend to resolve spontaneously and recur after surgical resection. We report four cases of CALME with a review of the literature. To the best of the knowledge, this is the first Korean report.

Citations

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Keep CALME (childhood asymmetry labium majus enlargement) and follow up
Andrea Sechi, Annalisa Patrizi, Giulio Vara, Rita Golfieri, Iria Neri
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.2021; 19(9): 1276. CrossRef
Bei CALME (childhood asymmetry labium majus enlargement): die Ruhe bewahren und nachverfolgen
Andrea Sechi, Annalisa Patrizi, Giulio Vara, Rita Golfieri, Iria Neri
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.2021; 19(9): 1276. CrossRef
Childhood Asymmetry Labium Majus Enlargement (CALME): Description of Two Cases
Cristina Salvatori, Ilaria Testa, Marco Prestipino, Maria Laurenti, Sara Riccioni, Giuseppe Di Cara, Nicola Principi, Susanna Esposito, Mirko Bertozzi
International Journal of Environmental Research and Public Health.2018; 15(7): 1525. CrossRef
Childhood asymmetrical labium majus enlargement sonographic and MR imaging appearances
Ami Gokli, Jeremy Neuman, Ruby Lukse, June Koshy, Fanyi Kong, Tal Laor
Pediatric Radiology.2016; 46(5): 674. CrossRef

Fine Needle Aspiration Cytology of Langerhans Cell Histiocytosis of Mandible: A Case Report.: Sang Ryung Lee, Jae Hee Suh, Hee Jung Cha, Young Min Kim, Hye Jeong Choi; Korean J Pathol. 2010;44(1):106-109.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.1.106

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Abstract PDF

We present a case of mandibular involvement with Langerhans cell histiocytosis (LCH), diagnosed by ultrasound-guided aspiration and subsequently confirmed by incisional biopsy and immunohistochemistry in an eight-year-old boy. The cytologic findings included the presence of characteristic Langerhans cells of both mononucleate and multinucleate form. Diagnostic confirmation was obtained by immunopositivity for S-100 protein and CD1a of Langerhans histiocytes on paraffin-embedded sections obtained during incisional biopsy of the right mandibular area. By reporting a case of childhood LCH, we correlate the cytologic findings with histologic features and discuss the role of aspiration cytologic diagnosis in such a rare and cytomorphologically characteristic case.

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Bronchial Washing Cytology of Pulmonary Langerhans Cell Histiocytosis: A Case Report
Taeyeong Kim, Hyeong Ju Kwon, Minseob Eom, Sang Wook Kim, Min Hi Sin, Soon-Hee Jung
Journal of Pathology and Translational Medicine.2017; 51(4): 444. CrossRef

Original Article

Comparison of Glomerular Size between Focal Segmental Glomerulosclerosis and Minimal Lesion in Children.: Jung Yeon Kim, Hyun Soon Lee; Korean J Pathol. 1996;30(10):903-911.

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Abstract PDF: The pathogenetic mechanism of focal segmental glomerulosclerosis (FSGS) is not known. Some authors suggest glomerular hypertrophy may precede the development of FSGS in patients with minimal lesion. It was recently reported that the size of nonsclerotic glomeruli in adults with FSGS is significantly larger than that of cases with minimal lesion. It is not clear whether glomerular hypertrophy observed in adults with FSGS is also seen in children with FSGS. Thus, we have analyzed 37 renal biopsies from children with FSGS by morphometry and the data were compared with 37 renal biopsies from age- and sex-matched patients with minimal lesion. The number of glomeruli submitted for morphometric analysis was 22.6+/-14.2 in cases with FSGS and 30.9+/-11.4 in cases with minimal lesion. Mean glomerular volume (MGV) in FSGS group was significantly larger than that of minimal lesion [(13.1+/-3.9) x10(5) microm3 vs. (10.1+/-1.9) x10(5) microm3, p<0.001]. The relative interstitial volume of renal cortex in patients with FSGS was significantly larger than that of minimal lesion [(0.106+/-0.051) microm3/microm3 vs. (0.029+/-0.012) microm3/microm3, p<0.0001]. In FSGS, the percentage of glomeruli with FSGS was significantly correlated with relative interstitial volume of renal cortex (r=0.79, p<0.0001). As is the case for adult FSGS, MGV of children with FSGS is significantly larger than that of minimal lesion. Thus, the presence of glomerular hypertrophy observed in biopsies with minimal lesion nephropathy seems to be an indication that the coexistent FSGS lesions are undetected due to sampling problems.

Case Report

Polypoid Ganglioneuromatosis of Colon: A case report.: Jin Ja Park, Kyung Chan Choi, Young Hee Choi, Young Euy Park; Korean J Pathol. 1998;32(5):388-390.

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Abstract: Gastrointestinal ganglioneuromatosis is an extremely rare lesion which typically occurs with a significant systemic syndrome. It is known to be a major component of multiple endocrine neoplasia, type 2b. We presented a case of polypoid ganglioneuromatosis of the colon in a 3-year-old female with abdominal pain and diarrhea. She had no clinical evidence of the systemic syndrome or von Recklinghausen's neurofibromatosis, conditions in which intestinal ganglioneuromatosis can occur. Gross examination showed diffuse polypoid masses in ascending and transverse colons with normal-appearing mucosa. Microscopic examination revealed a proliferation of spindle-shaped neuronal cells containing multiple clusters of mature ganglion cells in the mucosa, submucosa and proper muscle. We describe a case of colonic ganglioneuromatosis without any component of multiple endocrine neoplasia or family history.

Original Article

Comparison of Pathologic Findings of Cortical Lobectomy for Intractable Seizures between Children and Adults: An Analysis of 164 Cases.: Na Rae Kim, Yeon Lim Suh; Korean J Pathol. 1999;33(12):1175-1181.

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Abstract PDF: Many pathological surveys of brain tissue in patients with intractable epilepsy have been reported. There have been, however, few studies focused on the differences between childhood and adults in pathological alterations of brain. We retrospectively analyzed histopathology of 164 lobectomy specimens for intractable epilepsy in view of the differences between children and adults. Among 164 cases, 28 cases were children (less than 15 years) and 136 cases adults. We compared frequency of histopathologic features, distribution of involved cortex (temporal or extratemporal lobe), previous injury histories, such as brain trauma, encephalitis or febrile seizure, and coexistence of other lesions (dual pathology) between two groups. Pathologic alterations were encountered in 92% of 164 patients. In children focal cortical dysplasia (n=16, 57.1%), neoplasm (n=8, 28.6%), hippocampal sclerosis (n=6, 21.4%), cortical tuber (n=1, 3.6%), leukomalacia (n=1, 3.6%), and Rasmussen's encephalitis (n=1, 3.6%) were observed, whereas focal cortical dysplasia (n=81, 59.6%), hippocampal sclerosis (n=80, 58.8%), neoplasm (n=19, 14%), and cerebral cysticercosis (n=3, 2.2%) were found in adults. Pediatric patients had a higher proportion of severe focal cortical dysplasia (17.9% in children, 0.7% in adults). Neoplasia and extratemporal lobe involvement were more commonly found in children (28.6%, 50%) than in adults (14.0%, 24.3%), whereas hippocampal sclerosis and dual pathology were more common in adults (58.8%, 44.9%) than in children (21.4%, 17.9%). Previous injury history was statistically significant in patients with hippocampal sclerosis, and lent support to the hypothesis that hippocampal sclerosis is related with acquired lesions. Incidence of focal cortical dysplasia was nearly similar in both adult (59.6%) and pediatric groups (57.1%), and supported the hypothesis that focal cortical dysplasia is developmental abnormality occurring during a prenatal period.

Case Report

Cranial Fasciitis of Childhood: A case report.: Ok Ran Shin, Kyo Young Lee, Young Shin Kim, Chang Suk Kang, Sang In Shim; Korean J Pathol. 2000;34(2):164-166.

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Abstract PDF: Cranial fasciitis is a rare fibroblastic tumor which shows a predilection for the scalp of young children. We present a child with a rapidly growing mass and lytic skull lesion which on pathologic evaluation was diagnosed as cranial fasciitis. Histologically this lesion was identical to nodular fasciitis which was typically found in the trunk and extremities of adults. Cranial fasciitis is unique in that it may present as a lytic lesion in the skull, but this disease entity is not widely known to pathologists and radiologists, and should be included in the differential diagnosis of fibroblastic lesion occurring in the cranium of young children.

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 Report

Cytologic Features of Medullary Carcinoma of the Thyroid Occurring in a Child: A Case Report.: Jeong Seok Moon, Hye Sun Kim, Seong Jin Cho, Yang Seok Chae, Bom Woo Yeom; Korean J Cytopathol. 1996;7(2):213-217.

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Abstract PDF: Medullary carcinoma of the thyroid gland is a malignant neuroendocrine tumor arising from calcitonin producing-parafollicular cells. The tumor is clinically divided into sporadic and familial form, constituting about 80% and 20%, respectively. Recently, we experienced a case of unilateral and solitary sporadic medullary carcinoma of the left thyroid gland. The patient was a 9 year-old female, who presented with a palpable mass on the anterior lateral neck of 8 months duration without any familial and personal history of neuroendocrine disease. The cytopathologic findings showed spindle cells and plasmacytoid cells in the background of colloid-like materal. The nuclei were eccentrically located, mildly hyperchromatic and pleomorphic, showing speckled chromatin pattern without nuclear inclusion or prominent nucleoli. The cytoplasm was abundant and had a pale granular cyanophilic appearance. No amyloid materal could be identified.

Original Article

Fine Needle Aspiration Cytology of Mucoepidermoid Carcinoma of the Salivary Gland.: Jeong Seok Moon, Hwa Eun Oh, Joo Han Lee, Aee Ree Kim, Chul Hwan Kim, Han Kyeom Kim, Mee Ja Park, Nam Hee Won; Korean J Cytopathol. 1997;8(2):135-142.

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Abstract PDF: PURPOSE: There is no specific treatment guidelines for Henoch-Schonlein (HS) nephritis. Therefore we performed this study to observe the effect of long term steroid therapy combined with azathioprine METHODS: Treatment protocols; 1) Steroid pulse therapy: methylprednisolon 30 mg/kg/dose, maximum 1 gm, intravenously 6 times for alternate day. 2) Oral steroid was given 2 mg/kg/day for 1 month, 1 mg/kg/day for following I month and alternate day oral steroid combined with azathioprine 2 mg/kg/day for 2 years. RESULTS: Time period from HSP to onset of HS nephritis was between 2 weeks to 5 months with mean 7.4+/-7.4 weeks. Clinical remission were seen in 4 cases out of 5 (80%). Mean time period with disappearance of proteinuria and microscopic hematuria were 5+/-2.4 month and 13.3+/-2.9 month respectively. On pathologic findings by ISKDC, 3 cases were grade IIIb, 2 cases were grade IV in first kidney biopsies and showed pathologic improvement in follow up kidney biopsies after 2 years treatment. CONCLUSION: As there no definitive treatment for HS nephritis so far, our study of long term oral steroid therapy with azathioprine was effective in clinical and histologic aspect. Therefore further study in HS nephritis with in a large group will be needed in the future.

Case Report

Pediatric Adrenal Cortical Neoplasm with Histologic Malignancy: A Case Report with Review of Literature.: So Hyung Park, Daeyeon Kim, Gyungyub Gong; Korean J Pathol. 2006;40(5):370-372.

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Abstract PDF: Adrenal cortical neoplasm, especially carcinoma, is extremely rare in pediatric patients. We describe here a rare pediatric case of adrenal cortical neoplasm. A 2-year-old girl presented with an enlarged clitoris. The other physical findings and laboratory tests were nonspecific. The magnetic resonance imaging showed a 4 cm-sized heterogeneously enhancing soft tissue mass with calcification in the left adrenal gland. The mass was removed by laparoscopic operation. Grossly, several fragments of reddish tan soft tissue were present, and they weighed 19 gm in total. Microscopically, there were capsular invasion, diffuse/solid growth pattern with focal necrosis, high cellularity, cytoplasmic eosinophilia, marked nuclear pleomorphism, high N/C ratio, prominent nucleoli, atypical mitotic figures and calcifications, which all suggested adrenal cortical neoplasm of histologic malignancy. On immunohistochemistrical staining, there were positive reactivities to pancytokeratin, cytokeratin 7/20, CEA, inhibin and p53. The Ki-67 labeling index was about 6%. All these findings were indicative of adrenal cortical neoplasm of histologic malignancy.

Original Article

Renal Cell Carcinoma Associated with Xp11.2 Translocation: Clinicopathologic and Immunohistochemical Findings of 4 Cases.: Sanghui Park, Ji Eun Kwon, Yeon Lim Suh; Korean J Pathol. 2005;39(6):406-411.

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Abstract PDF: BACKGROUND
The new WHO classification includes the recently described renal cell carcinomas (RCC) that are associated with several different translocations, involving chromosome Xp11.2, and they all result in gene fusions involving the TFE3 gene. The authors describe the clinicopathologic and immunohistochemical findings of 4 patients who had the morphologic features of RCC with Xp11.2 translocations.
METHODS
Among 9 surgically resected and pathologically proven pediatric RCCs, 4 showed a typical RCC histopathology with the Xp11.2 translocation. Immunohistochemical stains were performed for TFE3, AE1/AE3, epithelial membrane antigen, vimentin, HMB45, S-100 protein and CD10.
RESULTS
The 4 study subjects included one male and 3 females, and their chief complaints were gross hematuria and abdominal pain. Histologically, the tumors showed two different histologic types: type 1 tumors (2 cases) that corresponded to those of ASPL-TFE3 RCC, and type 2 tumors (2 cases) that corresponded to PRCC-TFE3 RCC. Nuclear TFE3 immunostaining was seen in 3 cases. All the tumors were immunoreactive for CD10, and vimentin and cytokeratin were expressed in 3 cases and HMB-45 was expressed in 2 cases.
CONCLUSIONS
Our results show that significant numbers of pediatric RCC are translocation-related. Therefore, when one encounters an RCC in the pediatric population, the possibility of a translocation-related RCC should be kept in mind.

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