Primary Ewing’s sarcoma/primitive neuroectodermal tumor of the ileum: case report of a 16-year-old Chinese female and literature review

Autor: Fang Zhang, Yongmin Bi, Li Ren, Yarui Cao, Shoubin Ning, Teng Li, Weicheng Xue
Jazyk: angličtina
Rok vydání: 2017
Předmět:
China
Pathology
medicine.medical_specialty
Histology
Adolescent
Biopsy
CD99
EWS gene
Case Report
Ileum
Sarcoma
Ewing
Pathology and Forensic Medicine
03 medical and health sciences
0302 clinical medicine
FISH
Biomarkers
Tumor
lcsh:Pathology
Humans
Medicine
Neuroectodermal Tumors
Primitive
Peripheral
In Situ Hybridization
Fluorescence
Gene Rearrangement
business.industry
Ewing's sarcoma
General Medicine
Small intestine
medicine.disease
Immunohistochemistry
Magnetic Resonance Imaging
Hematochezia
Primitive neuroectodermal tumor
Malignant Gastrointestinal Stromal Tumor
Ileal Neoplasms
medicine.anatomical_structure
030220 oncology & carcinogenesis
Female
030211 gastroenterology & hepatology
Sarcoma
RNA-Binding Protein EWS
medicine.symptom
Ewing’s sarcoma
Tomography
X-Ray Computed
business
Extraosseous
lcsh:RB1-214
Zdroj: Diagnostic Pathology, Vol 12, Iss 1, Pp 1-9 (2017)
Diagnostic Pathology
ISSN: 1746-1596
DOI: 10.1186/s13000-017-0626-3
Popis: Background Ewing’s sarcoma (ES) and primitive neuroectodermal tumors (PNET) are closely related tumors. Although soft tissue ES/PNET are common in clinical practice, they are rare in the small intestine. Because of the absence of characteristic clinical symptoms, they are easily misdiagnosed as other benign or malignant diseases. Case presentation Here, we present the case of a 16-year-old female who complained of anemia and interval hematochezia. Her serum test results showed only a slight elevation of CA-125 and a low level of hemoglobin. Computer tomography and magnetic resonance imaging revealed a cystic and solid mass in the lower abdominal quadrant and pelvic region, which prompted suspicion of a malignant gastrointestinal stromal tumor of the small intestine. After resection, the tumor’s histology and immunohistochemistry (positive for CD99, vimentin and synaptophysin) results suggested ES/PNET. Fluorescent in situ hybridization tests proved the breakpoint rearrangement of the EWSR1 gene in chr 22.Ultrastructural analysis revealed neurosecretory and glycogen granules in the tumor cell cytoplasm. Conclusions Together, these data supported the diagnosis of a rare case of localized ES/PNET in the small intestine without adjuvant chemo- or radiotherapy. To our knowledge, this is the first report from China of a primary small bowel ES/PNET in the English-language literature. In addition, on the basis of findings from previous publications and the current case, the optimal treatment for localized gastrointestinal ES/PNET is discussed.
Databáze: OpenAIRE
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