Journal of Pathology and Translational Medicine

Case Study

Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene: Eunkyung Han, Jiyoon Kim, Min Jung Jung, Susie Chin, Sang Wook Lee, Ahrim Moon; J Pathol Transl Med. 2021;55(2):145-153. Published online March 9, 2021; DOI: https://doi.org/10.4132/jptm.2021.01.26

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A 57-year-old man with left flank pain was referred to our institute. Computed tomography scans revealed two enhancing masses in the left kidney. The clinical diagnosis was renal cell carcinoma (RCC). He underwent a radical nephrectomy with an adrenalectomy. Two well-circumscribed solid masses in the hilum and the lower pole (4.5 × 3.5 cm and 7.0 × 4.1 cm) were present. Poorly cohesive uniform round to polygonal epithelioid cells making solid sheets accounted for most of the tumor area. The initial diagnosis was RCC, undifferentiated with rhabdoid features. As the tumor showed loss of INI1 expression and a mutation in the SMARCB1 gene on chromosome 22, the revised diagnosis was a malignant rhabdoid tumor (MRT) of the kidney. To date, only a few cases of renal MRT in adults have been reported. To the best of our knowledge, this is the first report of MRT in the native kidney of an adult demonstrating a SMARCB1 gene mutation, a hallmark of MRT.

Citations

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Ali Msheik, Mohamad Aoun, Youssef Fares
Interdisciplinary Neurosurgery.2024; 35: 101857. CrossRef
Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature
Farhood Khaleghi mehr, Nasrollah Abian, Mandana Rahimi, Yasaman Moradi
International Journal of Surgery Case Reports.2023; 113: 109053. CrossRef

Original Article

Diagnostic Significance of Cellular Neuroglial Tissue in Ovarian Immature Teratoma: Yun Chai, Chang Gok Woo, Joo-Young Kim, Chong Jai Kim, Shin Kwang Khang, Jiyoon Kim, In Ah Park, Eun Na Kim, Kyu-Rae Kim; J Pathol Transl Med. 2017;51(1):49-55. Published online October 14, 2016; DOI: https://doi.org/10.4132/jptm.2016.09.19

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Abstract PDF

Background
Immature teratoma (IT) is a tumor containing immature neuroectodermal tissue, primarily in the form of neuroepithelial tubules. However, the diagnosis of tumors containing only cellular neuroglial tissue (CNT) without distinct neuroepithelial tubules is often difficult, since the histological characteristics of immature neuroectodermal tissues remain unclear. Here, we examined the significance of CNT and tried to define immature neuroectodermal tissues by comparing the histological features of neuroglial tissues between mature teratoma (MT) and IT.
Methods
The histological features of neuroglial tissue, including the cellularity, border between the neuroglial and adjacent tissues, cellular composition, mitotic index, Ki-67 proliferation rate, presence or absence of tissue necrosis, vascularity, and endothelial hyperplasia, were compared between 91 MT and 35 IT cases.
Results
CNTs with a cellularity grade of ≥ 2 were observed in 96% of IT cases and 4% of MT cases (p < .001); however, CNT with a cellularity grade of 3 in MT cases was confined to the histologically distinct granular layer of mature cerebellar tissue. Moreover, CNT in IT exhibited significantly higher rates of Ki-67 proliferation, mitoses, and necrosis than those in MT (p < .001). Furthermore, an infiltrative border of neuroglial tissue and glomeruloid endothelial hyperplasia were significantly more frequent in IT cases than in MT cases (p < .001).
Conclusions
Our results suggest that if CNT with a cellularity grade of ≥ 2 is not a component of cerebellar tissue, such cases should be diagnosed as IT containing immature neuroectodermal tissue, particularly if they exhibit an infiltrative border, mitoses, necrosis, and increased Ki-67 proliferation.

Citations

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Immature Teratoma: Diagnosis and Management—A Review of the Literature
Liviu Moraru, Melinda-Ildiko Mitranovici, Diana Maria Chiorean, Marius Coroș, Raluca Moraru, Ioan Emilian Oală, Sabin Gligore Turdean
Diagnostics.2023; 13(9): 1516. CrossRef
Congenital Immature Grade ΙΙΙ Teratoma of the Neck: A Case Report
Nazneen Liaqat, Israr Ud Din, Zeeshan Ali, Majid Rashid, Afsheen Liaqat
Cureus.2023;[Epub] CrossRef
Benign ovarian teratoma in the dog with predominantly nervous tissue: A case report
P Makovicky, AV Makarevich, P Makovicky, A Seidavi, L Vannucci, K Rimarova
Veterinární medicína.2022; 67(2): 99. CrossRef
Fascin as a Useful Marker for Identifying Neural Components in Immature Teratomas of Human Ovary and Those Derived From Murine Embryonic Stem Cells
Ryunosuke Umehara, Atsushi Kurata, Masakatsu Takanashi, Hirotsugu Hashimoto, Koji Fujita, Toshitaka Nagao, Masahiko Kuroda
International Journal of Gynecological Pathology.2019; 38(4): 377. CrossRef
Cerebellar Differentiation in Ovarian Teratoma: A Report of 6 Cases
Colin J.R. Stewart, Maxine L. Crook
International Journal of Gynecological Pathology.2018; 37(4): 316. CrossRef
Mitotic activity of epithelia of ectoand entodermal types in spontaneous and experimental teratomas of mice
Pavel A. Dyban
Medical academic journal.2018; 18(4): 42. CrossRef
Ovarian cystectomy in the treatment of apparent early-stage immature teratoma
Ting Zhao, Yan Liu, Xiao Wang, Hao Zhang, Yuan Lu
Journal of International Medical Research.2017; 45(2): 771. CrossRef

Case Study

A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome: Eun Na Kim, Gu-Hwan Kim, Jiyoon Kim, In Ah Park, Jin Ho Shin, Yun Chai, Kyu-Rae Kim; J Pathol Transl Med. 2017;51(2):159-164. Published online August 22, 2016; DOI: https://doi.org/10.4132/jptm.2016.07.01

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Abstract PDF

We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1–7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

Citations

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Ovarian Mucinous Tumor Presenting Atypical Lobular Endocervical Glandular Hyperplasia-Like Appearance in a Patient With Germline STK11 p.F354L Variant: A Case Report
Hiroshi Yoshida, Kengo Hiranuma, Mariko Nakahara, Mayumi Kobayashi-Kato, Yasuhito Tanase, Masaya Uno, Kouya Shiraishi, Mitsuya Ishikawa, Tomoyasu Kato
International Journal of Surgical Pathology.2024; 32(2): 394. CrossRef
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu, Liuying Zhou
Hereditary Cancer in Clinical Practice.2024;[Epub] CrossRef
Gastric‐type glandular lesions of the female genital tract excluding the cervix: emerging pathological entities
Richard W‐C Wong, Karen L Talia, W Glenn McCluggage
Histopathology.2024;[Epub] CrossRef
Gastric-phenotype Mucinous Carcinoma of the Fallopian Tube with Secondary Ovarian Involvement in a Woman with Peutz-Jeghers Syndrome: A Case Report
Mónica Bronte Anaut, Javier Arredondo Montero, Maria Pilar Fernández Seara, Rosa Guarch Troyas
International Journal of Surgical Pathology.2023; 31(1): 92. CrossRef
Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing
Swati Garg, Teddy S. Nagaria, Blaise Clarke, Orit Freedman, Zanobia Khan, Joerg Schwock, Marcus Q. Bernardini, Amit M. Oza, Kathy Han, Adam C. Smith, Tracy L. Stockley, Marjan Rouzbahman
Modern Pathology.2019; 32(12): 1823. CrossRef
The developing spectrum of gastric-type cervical glandular lesions
Karen L. Talia, W. Glenn McCluggage
Pathology.2018; 50(2): 122. CrossRef

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