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Cytodiagnosis of metastatic Ewing's sarcoma of orbital mass and its confirmation by demonstration of EWS/friend leukemia integration 1 fusion gene.

Kar A, Das U, Parija NC, Rout N - J Cytol (2014)

Bottom Line: She presented with low back ache of 1 year followed by proptosis of the right eye and swelling of the right side chest wall.Cytosmear and Tru-cut biopsy was taken from the orbital mass showed features of EWS.It was confirmed later by further studies including demonstration of EWS/friend leukemia integration-1 fusion gene by molecular genetic analysis.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, S. C. B. Medical College, Cuttack, Odisha, India.

ABSTRACT
Ewing's sarcoma (EWS) is an undifferentiated sarcoma of bone. Its morphologic appearance resembles many other malignant small round cell tumors. Due to the morphologic overlap, there is diagnostic difficulty and for accurate diagnosis, requires special studies such as immunohistochemistry, electron microscopy, cytogenetics, and molecular genetic analysis. We report a case of metastatic EWS from orbital mass in a 14-year-old female child diagnosed by cytology after clinicopathologic evaluation. She presented with low back ache of 1 year followed by proptosis of the right eye and swelling of the right side chest wall. Cytosmear and Tru-cut biopsy was taken from the orbital mass showed features of EWS. It was confirmed later by further studies including demonstration of EWS/friend leukemia integration-1 fusion gene by molecular genetic analysis.

No MeSH data available.


Related in: MedlinePlus

(a) Photomicrograph showing small round cells in tissue section (H and E ×100). (b) Under higher magnification, (H and E ×400). (c) Diffuse and strong positivity with CD99 (IHC, ×400). (d) Reverse transcription-polymerase chain reaction analysis of Ewing's sarcoma
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Figure 2: (a) Photomicrograph showing small round cells in tissue section (H and E ×100). (b) Under higher magnification, (H and E ×400). (c) Diffuse and strong positivity with CD99 (IHC, ×400). (d) Reverse transcription-polymerase chain reaction analysis of Ewing's sarcoma

Mentions: The case we present here is a 14-year-old female child who presented with low backache since 1 year followed by right eye proptosis for 4 months and swelling over right side chest wall since 3 months [Figure 1a]. Her routine and biochemical investigations were within normal limits. Tests for HIV, hepatitis C virus and HBsAg were negative. Her chest radiograph was normal. Magnetic resonance imaging revealed involvement of posterior element of the sacrum with L5 vertebra and a presacral soft tissue mass measuring 11.8 cm × 7.5 cm. Large abdominal soft tissue mass in pancreatic region measuring 6.2 cm × 4.8 cm was seen indicating a possibility of nodal involvement. Venous invasion with tumor thrombus in left internal and common iliac veins and lower inferior vena cava was noticed. Bone scan revealed multiple skeletal deposits. Fine needle aspiration smears from orbital mass were highly cellular showing cells arranged both in clusters and singly dispersed [Figure 1c]. Cells were both light and dark types with a thin rim of pale cytoplasm and small round nuclei having small inconspicuous nucleoli. Rosette like structures, but no true rosettes were seen. Considering the clinical presentation, a provisional diagnosis of MSRCT possibly EWS was given. Two Tru-cut biopsy samples were taken from the same mass. From one sample, paraffin block was prepared. Histologically the tumor cells were arranged in irregular nests separated by dense fibrous stroma [Figure 2a]. The cells were 1-2 times larger than small lymphocytes with scant eosinophilic or clear cytoplasm, centrally placed round nuclei with finely distributed chromatin and inconspicuous nucleoli [Figure 2b]. Mitotic figures were few; necrosis scanty and rosettes were not seen indicating the absence of neural differentiation. Periodic-acid Schiff (PAS) stain was positive demonstrating glycogen in cytoplasm. The paraffin block was subjected to CD99 immunohistochemical marker and was strongly and diffusely positive [Figure 2c]. Other sample was preserved in Trizol reagent for molecular genetic analysis to look for EWS-FLI-1 translocation. Total ribonucleic acid (RNA) was extracted from snap frozen tumor tissue using Trizol reagent. Reverse transcription-polymerase chain reaction (RT-PCR) was performed with ABL oligonucleotide primer to check for the quality of the RNA isolated, which amplified a 300 bp product.[2] The EWS-FLI-1 product was type 1 fusion (330 bp) [Figure 2d].


Cytodiagnosis of metastatic Ewing's sarcoma of orbital mass and its confirmation by demonstration of EWS/friend leukemia integration 1 fusion gene.

Kar A, Das U, Parija NC, Rout N - J Cytol (2014)

(a) Photomicrograph showing small round cells in tissue section (H and E ×100). (b) Under higher magnification, (H and E ×400). (c) Diffuse and strong positivity with CD99 (IHC, ×400). (d) Reverse transcription-polymerase chain reaction analysis of Ewing's sarcoma
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4150342&req=5

Figure 2: (a) Photomicrograph showing small round cells in tissue section (H and E ×100). (b) Under higher magnification, (H and E ×400). (c) Diffuse and strong positivity with CD99 (IHC, ×400). (d) Reverse transcription-polymerase chain reaction analysis of Ewing's sarcoma
Mentions: The case we present here is a 14-year-old female child who presented with low backache since 1 year followed by right eye proptosis for 4 months and swelling over right side chest wall since 3 months [Figure 1a]. Her routine and biochemical investigations were within normal limits. Tests for HIV, hepatitis C virus and HBsAg were negative. Her chest radiograph was normal. Magnetic resonance imaging revealed involvement of posterior element of the sacrum with L5 vertebra and a presacral soft tissue mass measuring 11.8 cm × 7.5 cm. Large abdominal soft tissue mass in pancreatic region measuring 6.2 cm × 4.8 cm was seen indicating a possibility of nodal involvement. Venous invasion with tumor thrombus in left internal and common iliac veins and lower inferior vena cava was noticed. Bone scan revealed multiple skeletal deposits. Fine needle aspiration smears from orbital mass were highly cellular showing cells arranged both in clusters and singly dispersed [Figure 1c]. Cells were both light and dark types with a thin rim of pale cytoplasm and small round nuclei having small inconspicuous nucleoli. Rosette like structures, but no true rosettes were seen. Considering the clinical presentation, a provisional diagnosis of MSRCT possibly EWS was given. Two Tru-cut biopsy samples were taken from the same mass. From one sample, paraffin block was prepared. Histologically the tumor cells were arranged in irregular nests separated by dense fibrous stroma [Figure 2a]. The cells were 1-2 times larger than small lymphocytes with scant eosinophilic or clear cytoplasm, centrally placed round nuclei with finely distributed chromatin and inconspicuous nucleoli [Figure 2b]. Mitotic figures were few; necrosis scanty and rosettes were not seen indicating the absence of neural differentiation. Periodic-acid Schiff (PAS) stain was positive demonstrating glycogen in cytoplasm. The paraffin block was subjected to CD99 immunohistochemical marker and was strongly and diffusely positive [Figure 2c]. Other sample was preserved in Trizol reagent for molecular genetic analysis to look for EWS-FLI-1 translocation. Total ribonucleic acid (RNA) was extracted from snap frozen tumor tissue using Trizol reagent. Reverse transcription-polymerase chain reaction (RT-PCR) was performed with ABL oligonucleotide primer to check for the quality of the RNA isolated, which amplified a 300 bp product.[2] The EWS-FLI-1 product was type 1 fusion (330 bp) [Figure 2d].

Bottom Line: She presented with low back ache of 1 year followed by proptosis of the right eye and swelling of the right side chest wall.Cytosmear and Tru-cut biopsy was taken from the orbital mass showed features of EWS.It was confirmed later by further studies including demonstration of EWS/friend leukemia integration-1 fusion gene by molecular genetic analysis.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, S. C. B. Medical College, Cuttack, Odisha, India.

ABSTRACT
Ewing's sarcoma (EWS) is an undifferentiated sarcoma of bone. Its morphologic appearance resembles many other malignant small round cell tumors. Due to the morphologic overlap, there is diagnostic difficulty and for accurate diagnosis, requires special studies such as immunohistochemistry, electron microscopy, cytogenetics, and molecular genetic analysis. We report a case of metastatic EWS from orbital mass in a 14-year-old female child diagnosed by cytology after clinicopathologic evaluation. She presented with low back ache of 1 year followed by proptosis of the right eye and swelling of the right side chest wall. Cytosmear and Tru-cut biopsy was taken from the orbital mass showed features of EWS. It was confirmed later by further studies including demonstration of EWS/friend leukemia integration-1 fusion gene by molecular genetic analysis.

No MeSH data available.


Related in: MedlinePlus