Journal of Pathology and Translational Medicine

Review

Utility of Transmission Electron Microscopy in Small Round Cell Tumors: Na Rae Kim, Seung Yeon Ha, Hyun Yee Cho; J Pathol Transl Med. 2015;49(2):93-101. Published online March 12, 2015; DOI: https://doi.org/10.4132/jptm.2015.01.30

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Small round cell tumors (SRCTs) are a heterogeneous group of neoplasms composed of small, primitive, and undifferentiated cells sharing similar histology under light microscopy. SRCTs include Ewing sarcoma/peripheral neuroectodermal tumor family tumors, neuroblastoma, desmoplastic SRCT, rhabdomyosarcoma, poorly differentiated round cell synovial sarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, small cell malignant peripheral nerve sheath tumor, and small cell schwannoma. Non-Hodgkin’s malignant lymphoma, myeloid sarcoma, malignant melanoma, and gastrointestinal stromal tumor may also present as SRCT. The current shift towards immunohistochemistry and cytogenetic molecular techniques for SRCT may be inappropriate because of antigenic overlapping or inconclusive molecular results due to the lack of differentiation of primitive cells and unavailable genetic service or limited moleculocytogenetic experience. Although usage has declined, electron microscopy (EM) remains very useful and shows salient features for the diagnosis of SRCTs. Although EM is not always required, it provides reliability and validity in the diagnosis of SRCT. Here, the ultrastructural characteristics of SRCTs are reviewed and we suggest that EM would be utilized as one of the reliable modalities for the diagnosis of undifferentiated and poorly differentiated SRCTs.

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Case Study

ThinPrep Cytological Findings of Desmoplastic Small Round Cell Tumor with Extensive Glandular Differentiation: A Case Study: Hyun-Jung Kim, Byeong Seok Sohn, Ji-Eun Kwon, Jeong Yeon Kim, Kyeongmee Park; Korean J Pathol. 2013;47(2):182-187. Published online April 24, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.2.182

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Abstract PDF

Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive neoplasm. The cytological diagnosis of this tumor has only been reported in a few cases. In most of these cases, the diagnosis was made using fine-needle aspiration cytology. Most DSRCTs resemble disseminated carcinomatoses in their clinical manifestation as well as cytomorphologically, even in young-adult patients. These authors report a case of using peritoneal-washing and pleural-effusion ThinPrep cytology to diagnose DSRCT, with extensive glandular differentiation and mucin vacuoles. We found that fibrillary stromal fragment, clinical setting, and adjunctive immunocytochemical staining were most helpful for avoiding misdiagnosis.

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Desmoplastic Small Round Cell Tumor Involving Serous Fluid: Cytologic Features and Diagnostic Pitfalls: A Series of 8 Cases
Nibras L Fakhri, Qiong Gan
American Journal of Clinical Pathology.2023; 160(4): 417. CrossRef
A Review of Effusion Cytomorphology of Small Round Cell Tumors
Lucy M. Han, Christopher J. VandenBussche, Mads Abildtrup, Ashish Chandra, Poonam Vohra
Acta Cytologica.2022; 66(4): 336. CrossRef
Intra-abdominal desmoplastic small blue round cell tumor: A case report
Tareq Hamed Al Taei, Hasan Al Fardan, Sarah Ali Al Mail
Radiology Case Reports.2022; 17(12): 4502. CrossRef
Desmoplastic Small Round Cell Tumor of the Kidney: Report of a Case, Literature Review, and Comprehensive Discussion of the Distinctive Morphologic, Immunohistochemical, and Molecular Features in the Differential Diagnosis of Small Round Cell Tumors Affec
Carlos A. Galliani, Michele Bisceglia, Antonio Del Giudice, Giuseppe Cretì
Advances in Anatomic Pathology.2020; 27(6): 408. CrossRef
Intra-abdominal desmoplastic small round cell tumors: CT and FDG-PET/CT findings with histopathological association
JINGJING CHEN, ZENGJIE WU, BINBIN SUN, DACHENG LI, ZHENGUANG WANG, FANGJUN LIU, HUI HUA
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Desmoplastic small round cell tumor with sphere‐like clusters mimicking adenocarcinoma
Yukinori Hattori, Akihiko Yoshida, Naoshi Sasaki, Yasuo Shibuki, Kenji Tamura, Koji Tsuta
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Cirugía y Cirujanos.2015; 83(3): 243. CrossRef
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Andrés Alejandro Briseño-Hernández, Deissy Roxana Quezada-López, Lilia Edith Corona-Cobián, Agar Castañeda-Chávez, Alfonso Tonatiuh Duarte-Ojeda, Michel Dassaejv Macías-Amezcua
Cirugía y Cirujanos (English Edition).2015; 83(3): 243. CrossRef
Diagnostic Pitfalls of Differentiating Desmoplastic Small Round Cell Tumor (DSRCT) From Wilms Tumor (WT)
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Case Reports

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.

Desmoplastic Small Round Cell Tumor with Ovarian Involvement: A Case Report.: Sang Hwa Lee, Wan Seop Kim, Ji Hoon Kim, Hye Seung Han, So Dug Lim, Sang Yoon Kim, Tae Sook Hwang; Korean J Pathol. 2009;43(2):185-188.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.2.185

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Abstract PDF

Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm that preferentially involves the abdominal and pelvic cavities in relatively young males. We present a rare case of DSRCT arising in the ovary of a 16-year-old girl. During surgery, a 15 cm-sized huge mass was noted in the right ovary and wide spreading of the tumor was identified in the left ovary, uterine wall, and omentum and bowel wall. Histological investigation showed nests of small round cells with round nuclei and scanty eosinophilic cytoplasm accompanied with dense desmoplastic stroma. The immunohistochemistry showed that the tumor coexpressed epithelial, mesenchymal, and neuronal markers. The tumor cells ultrastructurally showed poorly developed cell junctions and occasionally showed intracytoplasmic aggregates of intermediate filaments. Molecular analysis of the tumor revealed chromosomal translocation t(11:22)(p13;q12) associated with the EWS-WT1 fusion protein. DSRCT should be included in the differential diagnosis of ovarian neoplasms in young patients.

Citations

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Desmoplastic small round cell tumor of the ovary
Ravi Hari Phulware, Maitrayee Roy, Neeta Singh, Sunesh Kumar, Sandeep R. Mathur
Indian Journal of Pathology and Microbiology.2021; 64(1): 206. CrossRef

Intra-abdominal Desmoplastic Small Round Cell Tumor Diagnosed by Lymph Node Biopsy: A case report.: Myung Jin Ju, Kwang Min Lee, Hye Kyung Lee, Dong Kyu Chung; Korean J Pathol. 1995;29(5):698-701.

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Abstract: Intra-abdominal desmoplastic small round cell tumor has been described in the literature since 1989. It is characterized by the occurrence in ages less than 40 with male predominance, an intra-abdominal location, and small round to oval shaped tumor cells with divergent differentiation in the background of the desmoplastic stroma. We recently experienced this tumor in an inguinal lymph node of a 36-year-old man. It is suspected that it metastasized from a lower intra-abdominal tumor. Immunohistochemical stains for keratin, epithelial membrane antigen, vimentin, S-100 protein and neuron specific enolase were positive. This is the first documented case in Korea. Herein, we report on this tumor with a review of literature.

Original Article

Immunohistochemical and Ultrastructural Observation on Small Round Cell Tumors.: Chae Hong Suh, Jeong Yeol Yang, Sung Chul Lim, Yong Lim Kim; Korean J Pathol. 1997;31(11):1200-1213.

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Abstract: Small round cell tumors such as neuroblastoma, rhabdomyosarcoma, Ewing's tumor, malignant lymphoma and small cell carcinoma are often confused clinically and histologically. To clarify the similarites and differences and to get more information on the histogenesis among the small round cell tumors, we examined histological, immunohistochemical and ultrastructural features of ten cases of neuroblastomas, twenty Ewing's tumors, ten embryonal rhabdomyosarcomas and twelve small cell carcinomas in children and young adults. Antibodies against desmin, vimentin, cytokeratin, neuron-specific enolase, synaptophysin, neurofilament, S-100 protein, chromogranin and HBA 71 were used in biotin streptavidin procedures. The results of the immunohistochemical and electron microscopical examinations yielded virtually identical findings in each group as followings. 1) Among the twenty cases of Ewing's tumors, eighteen cases were positive in staining for HBA-71. The staining for HBA-71 was negative in neuroblastoma, embryonal rhabdomyosarcoma and small cell carcinoma. 2) Neuroblastomas had marked interdigitating cytoplasmic processes containing many microtubules and dense-core secretory granules, however, they were sparse and rare in Ewing's tumor. 3) Embryonal rhabdomyosarcoma showed actin-myosin bundles. According to differentiation, well differentiated rhabdomyosarcoma exhibited Z-band materials and external lamina. 4) Neuroblastoma showed ultrastructural evidence of a neuronal differentiation, but neuronal differentration is a sparse and rare in Ewing's tumor. This ultrastructural feature strengthens the hypothesis that Ewing's tumor is derived not only from an undifferentiated neuroectodermal stem cell but from primitive cell of neuroectodermal origin.

Case Reports

Primitive Neuroectodermal Tumor of the Kidney: A case report .: Sang Yong Song, Eun Youn Cho, Jung Won Lee, Jai Hyang Go, Mi Kyung Kim, Dae Shick Kim, Young Hyeh Ko; Korean J Pathol. 1998;32(3):231-236.

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Abstract PDF: Peripheral primitive neuroectodermal tumor (pPNET), a rare, highly aggressive neoplasm of indetermined histogenesis, occurs typically in the soft tissues of the chest wall and the paraspinal region. Comprehensive diagnostic studies including histological, ultrastructural, immunohistochemical and molecular analyses have been stressed to diagnose this entity. We report a case of primary renal PNET which was incidentally found in a 59-year-old man who presented with generalized weakness for 4 months. He was diagnosed as a non-insulin dependent diabetes mellitus 15 years ago and has been made well by oral therapy. An ill-defined mass, measuring 3.5 3 cm, located in the left kidney and perirenal fat, was incidentally found by ultrasonogram during a renal diabetic examination. The mass was resected because of the unresponsiveness against one-year chemotherapy and radiation therapy. Grossly, a homogeneously solid, gray-white mass, measuring 2.8 1.8 cm, was noted in the mid portion of renal cortex. The mass showed severe adhesion to the perirenal fatty tissue. Microscopically, tumor cells were rather uniform, small round with scanty cytoplasm and often showed rosette formation. Ultrastructurally, they showed membrane-bound dense core granules, measuring 125~150 nm, intercellular junctions and microvillous cytoplasmic projections. The tumor cells were uniformly immunoreactive for neuron-specific enolase and were focally immunoreactive for CD99 (013), chromogranin, synaptophysin and cytokeratin. They were not reactive for S-100 protein, vimentin, Leu-7, leukocyte common antigen, desmin and smooth muscle actin. To our knowledge, this is the smallest renal PNET in literature.

Imprint Cytology of a Desmoplastic Small Round Cell Tumor: A Case Report.: Joon Hyuk Choi, Yong Jin Kim, Jae Hwang Kim; Korean J Cytopathol. 2007;18(1):81-86.

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Abstract 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).

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