Humans ; Sarcoma, Small Cell/pathology* ; Transcription Factors ; Gastrointestinal Tract/pathology* ; Oncogene Proteins, Fusion/genetics* ; Biomarkers, Tumor ; Soft Tissue Neoplasms

Humans ; Sarcoma, Small Cell/pathology* ; Sarcoma/pathology* ; Oncogene Proteins, Fusion ; Biomarkers, Tumor ; Soft Tissue Neoplasms/genetics*

Biomarkers, Tumor ; Humans ; Infant ; Oncogene Proteins, Fusion ; Sarcoma, Ewing ; Sarcoma, Small Cell ; Soft Tissue Neoplasms

Objective: To investigate the histopathologic, immunohistochemical, molecular genetic characteristics of CIC-rearranged sarcoma (CRS) with rhabdoid features. Methods: The clinical and pathologic data of two cases of CRS diagnosed between 2019 and 2021 at the Department of Pathology, Jiangsu Province Hospital were analyzed. Immunohistochemical study and fluorescence in situ hybridization (FISH) were performed. The relevant literature was reviewed. Results: Both patients were female, one was 58 years old, with tumor located in left thigh; the other was 43 years old, with tumor located in left pelvic cavity. Microscopically, both tumors were composed of small to medium-sized round, oval cells, arranged in nodules or sheets. The tumor cells showed irregular nuclear outline, coarse chromatin with prominent nucleoli and brisk mitotic activity. Both cases showed rhabdoid phenotype with myxoid stromal changes. Immunohistochemically, both cases were positive for CD99 and c-myc. High WT1 reactivity was seen in classic area, with low reactivity in rhabdoid area. There was no INI1 lost in both cases. Both were negative for NKX2.2 and NKX3.1. By FISH both cases demonstrated convincing break-apart signals of CIC gene. One patient died of disease after 1 month, and the other died of disease after 3 months. Conclusions: CRS is a small round cell undifferentiated sarcoma of the bone and soft tissue defined by molecular genetic characteristics, and may show atypical morphologic and immunophenotypic characteristics such as rhabdoid features. A correct understanding of its rare morphologic and immunophenotypic characteristics, combined with molecular pathologic detection, is conducive to correct diagnosis.
Female ; Humans ; Male ; Biomarkers, Tumor/analysis* ; In Situ Hybridization, Fluorescence ; Sarcoma/pathology* ; Sarcoma, Small Cell/pathology* ; Transcription Factors/genetics* ; Rhabdoid Tumor/pathology*

BACKGROUND: Although epidermal growth factor receptor (EGFR), v-Ki-ras2 Kirsten rat sarcoma viral oncogene (KRAS), and anaplastic lymphoma kinase (ALK) mutations in non-small cell lung cancer (NSCLC) were thought to be mutually exclusive, some tumors harbor concomitant mutations. Discovering a driver mutation on the basis of morphologic features and therapeutic responses with mutation analysis can be used to understand pathogenesis and predict resistance in targeted therapy. METHODS: In 6,637 patients with NSCLC, 12 patients who had concomitant mutations were selected and clinicopathologic features were reviewed. Clinical characteristics included sex, age, smoking history, previous treatment, and targeted therapy with response and disease-free survival. Histologic features included dominant patterns, nuclear and cytoplasmic features. RESULTS: All patients were diagnosed with adenocarcinoma and had an EGFR mutation. Six patients had concomitant KRAS mutations and the other six had KRAS mutations. Five of six EGFR-KRAS mutation patients showed papillary and acinar histologic patterns with hobnail cells. Three of six received EGFR tyrosine kinase inhibitor (TKI) and showed partial response for 7-29 months. All six EGFR-ALK mutation patients showed solid or cribriform patterns and three had signet ring cells. Five of six EGFR-ALK mutation patients received EGFR TKI and/or ALK inhibitor and four showed partial response or stable disease, except for one patient who had acquired an EGFR mutation. CONCLUSIONS: EGFR and ALK mutations play an important role as driver mutations in double mutated NSCLC, and morphologic analysis can be used to predict treatment response.
Adenocarcinoma ; Animals ; Carcinoma, Non-Small-Cell Lung* ; Cytoplasm ; Disease-Free Survival ; Humans ; Lymphoma ; Oncogenes ; Phosphotransferases ; Protein-Tyrosine Kinases ; Rats ; Receptor, Epidermal Growth Factor ; Sarcoma ; Smoke ; Smoking

PURPOSE: Pediatric-type sarcomas such as rhabdomyosarcoma (RMS), Ewing sarcoma (EWS), primitive neuroectodermal tumor (PNET), and desmoplastic small round-cell tumor (DSRCT) are rare in adults, with limited studies on their prognosis and optimal treatment strategies. We aimed to examine the outcome of children and adult patients with RMS, EWS, PNET, and DSRCT and relevant prognostic factors. MATERIALS AND METHODS: We retrospectively reviewed 220 pediatric-type sarcoma patients at a single institution between 1985 and 2011. Comparisons were made in order to examine differences in demographics, disease characteristics, and survival. Survival analyses were performed using the Kaplan-Meier method with log-rank tests and Cox proportional hazards models. RESULTS: A total of 220 consecutive patients were identified at our institute. Median age was 15.6 years (range, 0 to 81 years) and there were 108 children (49%) and 112 adult patients (51%). According to histological classification, 106 patients (48.2%) had RMS, 60 (27.3%) had EWS, 50 (22.7%) had PNET, and 4 (1.8%) had DSRCT. With a median follow-up period of 6.6 years, the estimated median overall survival (OS) of all patients was 75 months (95% confidence interval [CI], 27.2 to 122.8 months) and median event-free survival (EFS) for all patients was 11 months (95% CI, 8.8 to 13.2 months). No significant difference in OS and EFS was observed between adults and children. In multivariate analysis, distant metastasis (hazard ratio [HR], 1.617; 95% CI, 1.022 to 2.557; p=0.040) and no debulking surgery (HR, 1.443; 95% CI, 1.104 to 1.812; p=0.012) showed independent association with worse OS. CONCLUSION: Metastatic disease and no surgical treatment are poor prognostic factors for OS among pediatric-type sarcomas for both adults and children.
Adult* ; Child* ; Classification ; Demography ; Desmoplastic Small Round Cell Tumor ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Incidence* ; Multivariate Analysis ; Neoplasm Metastasis ; Neuroectodermal Tumors, Primitive ; Prognosis ; Proportional Hazards Models ; Retrospective Studies ; Rhabdomyosarcoma ; Sarcoma* ; Sarcoma, Ewing

BACKGROUND: Companion biomarkers are biomarkers that are used in combination with specific therapies and that prospectively help predict likely response or severe toxicity. In this article we review the role of companion biomarkers in guiding treatment in patients with cancer. CONTENT: In addition to the established companion biomarkers such as estrogen receptors and HER 2 (human epidermal growth factor receptor 2) in breast cancer, several new companion biomarkers have become available in recent years. These include v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations for the selection of patients with advanced colorectal cancer who are unlikely to benefit from anti-epidermal growth factor receptor antibodies (cetuximab or panitumumab), epidermal growth factor receptor (EGFR) mutations for selecting patients with advanced non-small cell lung cancer (NSCLC) for treatment with tyrosine kinase inhibitors (gefitinib or erlotinib), v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations for selecting patients with advanced melanoma for treatment with anti-BRAF agents (vemurafenib and dabrafenib), and anaplastic lymphoma receptor tyrosine kinase (ALK) translocations for identifying patients with NSCLC likely to benefit from crizotinib. Summary: The availability of companion biomarkers should improve drug efficacy, decrease toxicity, and lead to a more individualized approach to cancer treatment. SUMMARY: The availability of companion biomarkers should improve drug efficacy, decrease toxicity, and lead to a more individualized approach to cancer treatment.
Animals ; Antibodies ; Biomarkers* ; Breast Neoplasms ; Carcinoma, Non-Small-Cell Lung ; Colorectal Neoplasms ; Friends* ; Humans ; Lymphoma ; Melanoma ; Oncogenes ; Protein-Tyrosine Kinases ; Rats ; Receptor, Epidermal Growth Factor ; Receptors, Estrogen ; Sarcoma

Sarcomatoid carcinoma is a rare, malignant biphasic neoplasm with an epithelial and a spindle cell component. Primary sarcomatoid carcinomas arising from mandibular gingiva are known to be extremely rare, with only one case reported to date. Herein, we discuss the radiographic and computed tomographic appearances and pathological features of primary mandibular sarcomatoid carcinoma, which was confirmed by clinicopathology, in a 72-year-old man. In addition, we present a brief review of the relevant literature.
Aged ; Bone and Bones ; diagnostic imaging ; Carcinoma ; pathology ; Carcinoma, Small Cell ; pathology ; Carcinosarcoma ; pathology ; Gingiva ; pathology ; Gingival Neoplasms ; pathology ; Humans ; Male ; Mandibular Neoplasms ; pathology ; Sarcoma ; pathology ; Tomography, X-Ray Computed

OBJECTIVETo compare the pathologic diagnosis and immunohistochemistry of small cell malignant tumors (SCMT) of bone using both core needle biopsy and surgical specimen.

METHODSSeventy-seven cases of SCMT with core needle biopsies and surgical specimens available were respectively analyzed by histologic examination and immunohistochemical study, with literature review.

RESULTSThe male-to-female ratio was 48:29. The age of the patients ranged from 6 to 73 years. The tumors studied included Ewing sarcoma/PNET (n = 38), myeloma (n = 23), lymphoma (n = 10), small cell osteosarcoma (n = 2), small cell carcinoma (n = 2) and mesenchymal chondrosarcoma (n = 2). The tumors involved limbs, axial skeleton and flat bones. Microscopically, the tumors shared similar histology, with small round cells and spindly cells arranged in diffuse sheets. The pathologic diagnosis by core needle biopsies correlated with that by surgical specimens in 84.4% (65/77) of the cases.

CONCLUSIONSSCMT represents a heterogeneous group of malignancy. Correlations with clinicoradiologic findings and application of ancillary investigations including immunohistochemistry and molecular study are important for definitive diagnosis. Pathologic diagnosis using core needle biopsies shows good results and provides useful information for surgical planning.

12E7 Antigen ; Adolescent ; Adult ; Aged ; Antigens, CD ; metabolism ; Biopsy, Large-Core Needle ; Bone Neoplasms ; diagnosis ; metabolism ; pathology ; Carcinoma, Small Cell ; diagnosis ; metabolism ; pathology ; Cell Adhesion Molecules ; metabolism ; Child ; Female ; Humans ; Lymphoma ; diagnosis ; metabolism ; pathology ; Male ; Middle Aged ; Neuroectodermal Tumors, Primitive, Peripheral ; diagnosis ; metabolism ; pathology ; Oncogene Proteins, Fusion ; metabolism ; Osteosarcoma ; diagnosis ; metabolism ; pathology ; Plasmacytoma ; diagnosis ; metabolism ; pathology ; Proto-Oncogene Protein c-fli-1 ; metabolism ; RNA-Binding Protein EWS ; metabolism ; Retrospective Studies ; Sarcoma, Ewing ; diagnosis ; metabolism ; pathology ; Vimentin ; metabolism ; Young Adult

Metastatic cancers of the stomach are rare. Metastatic diseases of the stomach can occur with melanoma and other primary tumors of the breast, lung, ovary, liver, colon, and testis; however, breast cancer is the most common. Other rare malignant tumors that can involve the stomach include Kaposi's sarcoma, myenteric schwannoma, glomus tumor, small cell carcinoma, and parietal cell carcinoma. On the other hand, solitary fibrous tumors of the pleura are rare soft tissue sarcomas, and most are benign; however, 13 to 36% may be malignant. Metastases may occur in extrathoracic sites, such as the liver, central nervous system, spleen, adrenal gland, and bone. We herein report a case of a 75-year-old man with previously diagnosed brain and liver metastases. He developed a stomach metastasis from a malignant solitary fibrous tumor and presented with gastrointestinal bleeding symptoms.
Adrenal Glands ; Aged ; Brain ; Breast ; Breast Neoplasms ; Carcinoma, Small Cell ; Central Nervous System ; Colon ; Endoscopy ; Female ; Gastrointestinal Hemorrhage ; Glomus Tumor ; Hand ; Hemorrhage ; Humans ; Liver ; Lung ; Melanoma ; Neoplasm Metastasis ; Neurilemmoma ; Ovary ; Pleura ; Sarcoma ; Sarcoma, Kaposi ; Solitary Fibrous Tumors ; Spleen ; Stomach