Diagnosis Of Mesenchymal Tumors Research Articles

Utility of Retrospective Molecular Analysis in Diagnostically Challenging Mesenchymal Neoplasms.

Introduction: Molecular analysis plays a growing role in the diagnosis of mesenchymal neoplasms. The aim of this study was to retrospectively apply broad, multiplex molecular assays (a solid tumor targeted next-generation sequencing [NGS]) assay and single nucleotide polymorphism [SNP] microarray) to selected tumors, exploring the current utility and limitations. Methods: We searched our database (2010-2020) for diagnostically challenging mesenchymal neoplasms. After histologic review of available slides, tissue blocks were selected for NGS, SNP microarray, or both. DNA and RNA were extracted using the AllPrep DNA/RNA FFPE Kit Protocol on the QIAcube instrument. The NGS platform used was the TruSight Tumor 170 (TST-170). For SNP array, copy number variant (CNV) analysis was performed using the OncoScanTM CNV Plus Assay. Results: DNA/RNA was successfully extracted from 50% of tumors (n = 10/20). Specimens not successfully extracted included 6 core biopsies, 3 incisional biopsies, and 1 resection; 4 were decalcified (3 hydrochloric acid, 1 ethylenediaminetetraacetic acid). Higher tumor proportion and number of tumor cells were parameters positively associated with sufficient DNA/RNA extraction whereas necrosis and decalcification were negatively associated with sufficient extraction. Molecular testing helped reach a definitive diagnosis in 50% of tumors (n = 5/10). Conclusions: Although the overall utility of this approach is limited, these molecular panels can be helpful in detecting a specific "driver" alteration.

Malignant Superficial Mesenchymal Tumors in Children.

Simple SummaryMalignant tumors of the skin and subcutaneous tissue are rare in children. Most of these cancers are mesenchymal tumors and among these tumors, most have an intermediate malignant potential or are considered low grade sarcomas. In addition, some sarcomas of deep soft tissues may also involve the skin by contiguity. This review aims to sort out the diversity of these malignant mesenchymal tumors in children, with a particular focus on clinical features that may be useful for clinicians (especially age at presentation) and on the newest entities and genetic data.Malignant superficial mesenchymal tumors are a very diverse group of neoplasms with few clinical and radiological discriminatory factors. Hence, some of these cancers are rarely suspected based on clinical and radiological grounds, others may be easily misdiagnosed, and the histological analysis of a biopsy or resection is central in the diagnostic process. In children, the age at presentation is a major element of the differential diagnosis. Some tumors have a very distinct epidemiology, while others may be seen at any age. More recently, the advances in molecular biology have greatly improved the diagnosis of mesenchymal tumors and new entities are still being described. In the present review, we provide an overview of the diversity of malignant superficial mesenchymal tumors in children, including new and/or rare entities. We discuss the important diagnostic features, be they clinical, histological, or molecular. Special attention was given to the genetic features of these tumors, particularly when they were helpful for the diagnosis or treatment.

Superficial myofibroblastoma of the lower female genital tract: case report and literature review

Introduction: Superficial myofibroblastoma of the lower female genital tract is a benign mesenchymal tumor preferentially located in the vagina, but may also arise in the cervix and vulva. This article provides a comprehensive review of the literature as well as describes a case report to help correlate presentation with management. Methods: We conducted an extensive literature review without a defined time range and across three databases (Pubmed/Ovid, Embase, and Web of Science). Inclusion criteria specified all peer-reviewed publications of myofibroblastoma in the lower female genital tract in the English language. Results: Six hundred and seventy-three articles were identified, with 15 articles being included in the review based on eligibility criteria. There were 12 case reports, 3 case series, with a total of 56 cases from 53 patients. Age ranges were 23-80years (mean=55). Most gross examinations were described as polypoid or nodular in appearance, measuring 2 mm to 120mm (mean=39). All cases were clinically managed with either local excision or incidentally identified after a hysterectomy. There are no published recommendations for an optimal follow-up interval. Conclusion: The diagnosis of mesenchymal tumors in the female genital tract is challenging. Expression of Vimentin, Progesterone, Estrogen, Desmin, and CD34 is noted in the majority of SMGFT tumors while testing for CD99 and bcl-22 may assist in identification of challenging cases. Understanding the variety in presentation and immunohistochemical markers of superficial myofibroblastoma is significant as it may change surgical approach and follow-up to tumors of the lower female genital tract.

Malignant peripheral nerve sheath tumor in a cat: cytological, histopathological, and immunohistochemical aspects

The malignant peripheral nerve sheath tumor is an uncommon tumor in cats. Cytological preparations can be used to diagnose such neoplasia, being a useful tool to characterize a spindle cell tumor presenting several criteria of malignancy. Histopathological examination is required for a definitive diagnosis, complemented by immunohistochemical techniques. This paper describes a case of malignant peripheral nerve sheath tumor in a cat. The diagnosis of mesenchymal neoplasm with high pleomorphism was suggested by cytology, performed through fine needle aspiration. Thereafter, the nodule underwent surgical excision, histopathological analysis, and immunohistochemistry. For immunohistochemical analysis, the panel included vimentin, S-100 protein, GFAP, von Willebrand factor, and cytokeratin. The markers that showed positive immunolabeling were vimentin and S-100 protein, confirming the mesenchymal origin of the tumor. It is possible to conclude that cytology was useful and reliable to pre-diagnose the neoplasm in this case. Added to the convenience and short time for execution of the technique, the aspiration cytology is recommended to suggest a diagnosis in similar cases and support the clinical management of the patient.

AB046. The limitations in the diagnosis of mesenchymal neoplasms in bronchoscopy biopsy material—a case report

AB046. The limitations in the diagnosis of mesenchymal neoplasms in bronchoscopy biopsy material—a case report

Correlation between radiological assessment and histopathological diagnosis in retroperitoneal tumors: Analysis of 291 consecutive patients at a tertiary reference sarcoma center

ObjectivesAim of study was to assess the correlation between computed tomography scan (CT) findings and histopathology. Material and methodsData were collected on consecutive patients with suspected retroperitoneal sarcoma (RPS) referred to a tertiary sarcoma center. Patients underwent contrast enhanced multi-detector CT scans. Radiological features of lesions were classified according to the presence of a fatty (Group A) mass, or non-fatty (Group B) mass, both subdivided according to homogeneity and intralesional high-contrasted appearance. Radiological classification was compared with histopathological diagnosis. Sensitivity, specificity, positive/negative predictive value (PPV, NPV) were analyzed. ResultsOf 291 patients, 103/291 (35.4%) masses were classified in Group A and 188/291 (64.6%) in Group B. Diagnosis of mesenchymal tumor was obtained in 231/291 cases (79%) and non-mesenchymal tumor in 60/291 (21%). Sensitivity and specificity of Group A for liposarcoma were 76.7% and 92.0%; PPV and NPV were 86.4% and 85.6%. Sensitivity of Group B for a mesenchymal tumor was 55.4% and specificity was 0%; PPV and NPV were 68.1% and 0%. ConclusionsNone of radiological criteria were sufficient to anticipate a specific diagnosis, with the only exception of well differentiated liposarcoma and angiomyolipoma. In a series of suspected RPS, 21% of the lesions were finally non-mesenchymal tumors.

Utilization of Fluorescence In Situ Hybridization in the Diagnosis of 230 Mesenchymal Neoplasms: An Institutional Experience

Mesenchymal neoplasms harbor characteristic translocations and amplification of gene regions amenable to evaluation by fluorescence in situ hybridization (FISH). To determine the utility of FISH in the diagnosis of mesenchymal neoplasms. Two hundred thirty soft tissue cases analyzed by FISH were reviewed retrospectively. Morphologic patterns where FISH was used included high-grade round cell sarcomas (n = 67), nonmyogenic spindle cell sarcomas (n = 40), low-grade myxoid neoplasms (n = 34), adipocytic neoplasms (n = 20), and melanocytic neoplasms (n = 19). Fifty cases did not fit into the previously mentioned categories. SYT FISH (96% of monophasic synovial sarcomas were positive; 0% of malignant peripheral nerve sheath tumor were positive) and DDIT3 FISH (100% of myxoid/round cell liposarcomas; no other neoplasm positive) were very sensitive and specific. EWSR1 FISH was very sensitive and specific in the differential diagnosis of melanocytic neoplasms (88% of clear cell sarcomas were positive; all melanomas were negative). EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1. FUS FISH was very sensitive in detecting low-grade fibromyxoid sarcomas (91% positive) but not specific because most myxoid/round cell liposarcomas also contain rearrangements of FUS. All atypical lipomatous tumors were positive for amplification of MDM2, whereas all lipomas were negative. FOXO1A FISH was positive in ∼70% of cases of alveolar rhabdomyosarcoma. FISH is a useful adjunct in the diagnosis of mesenchymal neoplasms.

Utilization of fluorescence in situ hybridization in the diagnosis of 230 mesenchymal neoplasms: an institutional experience.

Abstract Context—Mesenchymal neoplasms harbor characteristic translocations and amplification of gene regions amenable to evaluation by fluorescence in situ hybridization (FISH). Objective—To determine the utility of FISH in the diagnosis of mesenchymal neoplasms. Design—Two hundred thirty soft tissue cases analyzed by FISH were reviewed retrospectively. Results—Morphologic patterns where FISH was used included high-grade round cell sarcomas (n = 67), nonmyogenic spindle cell sarcomas (n = 40), low-grade myxoid neoplasms (n = 34), adipocytic neoplasms (n = 20), and melanocytic neoplasms (n = 19). Fifty cases did not fit into the previously mentioned categories. SYT FISH (96% of monophasic synovial sarcomas were positive; 0% of malignant peripheral nerve sheath tumor were positive) and DDIT3 FISH (100% of myxoid/round cell liposarcomas; no other neoplasm positive) were very sensitive and specific. EWSR1 FISH was very sensitive and specific in the differential diagnosis of melanocytic neoplasms (8...

Endoscopic ultrasound-guided fine-needle aspiration and trucut biopsy in the diagnosis of gastric stromal tumors: a randomized crossover study

BACKGROUND AND AIM: The diagnosis of gastrointestinal stromal tumors (GISTs) has important prognostic and therapeutic implications. The specific diagnosis of GIST has to be based on immunocytochemistry. This study aimed to prospectively compare in a crossover manner the accuracy of endoscopic ultrasound (EUS)-guided fine-needle aspiration (EUS-FNA) and EUS-guided trucut biopsy (EUS-TCB) in the specific diagnosis of gastric GISTs. We hypothesized that EUS-TCB is superior to EUS-FNA in this respect. PATIENTS AND METHODS: Forty patients with gastric subepithelial tumors suspected on the basis of EUS of being a GIST underwent both EUS-FNA and EUS-TCB. The sequence in which the techniques were employed was randomly assigned to avoid bias. RESULTS: Forty tumors were sampled (mean number of passes: 2.1 ± 0.9 with EUS-TNB and 1.9 ± 0.8 with EUS-FNA; P = not significant, NS). Final diagnoses were: GIST (n = 27), carcinoma (n = 2), leiomyoma (n = 1), schwannoma (n = 1), and no diagnosis possible (n = 9). Device failure occurred in 6 patients with EUS-TCB. A cytohistological diagnosis of mesenchymal tumor (n = 29) and carcinoma (n = 2) was made in 70 % of cases by EUS-FNA and in 60 % of cases by EUS-TCB ( P = NS). Among the samples that were adequate, immunohistochemistry could be performed in 74 % of EUS-FNA samples and in 91 % of EUS-TCB samples ( P = 0.025). When inadequate samples were included, the overall diagnostic accuracy of EUS-FNA was 52 % and that of EUS-TCB was 55 % ( P = NS). There were no complications. CONCLUSIONS: EUS-TCB is not superior to EUS-FNA in GISTs because of the high rate of technical failure of trucut. However, when an adequate sample is obtained with EUS-TCB, immunohistochemical phenotyping is almost always possible. EUS-TCB can be safely performed in this set of patients.

Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1‐PBX1 fusion gene in a myoepithelioma

Chromosome banding as well as molecular cytogenetic methods are of great help in the diagnosis of mesenchymal tumors. Myoepithelial neoplasms of soft tissue including myoepitheliomas, mixed tumors, and parachordomas are diagnoses that have been increasingly recognized the last few years. It is still debated which neoplasms should be included in these morphologically heterogeneous entities, and the boundaries between them are not clear-cut. The pathogenetic mechanisms behind myoepithelial tumors are unknown. Only five parachordomas and one mixed tumor have previously been karyotyped, and nothing is known about their molecular genetic characteristics. We present a mesenchymal tumor classified as a myoepithelioma that had a balanced translocation t(1;22)(q23;q12) as the sole karyotypic change. A novel EWSR1-PBX1 fusion gene consisting of exons 1-8 of the 5'-end of EWSR1 and exons 5-9 of the 3'-end of PBX1 was shown to result from the translocation. Both genes are known to be targeted also by other neoplasia-specific translocations, PBX1 in acute lymphoblastic leukemia and EWSR1 in several solid tumors, most of which are malignant. Based on the structure of the novel fusion gene detected, its transforming mechanism is thought to be the same as for other fusion genes involving EWSR1 or PBX1.

Primary monophasic synovial sarcoma of the duodenum with SYT/SSX2 type of translocation

Recent findings on the molecular background of synovial sarcoma with the description of the specific translocation t(X;18) led to the incorporation of this particular genetic aberration into the definition of this tumor type. Synovial sarcomas with proven diagnostic translocation are being described with increasing frequency in unsuspected locations not related to joints, such as lung, pleura, heart, or pharynx. The gastrointestinal tract has been rarely reported as a primary site of synovial sarcomas with rare cases in the esophagus and stomach. We report a case of a primary synovial sarcoma of the distal duodenum with SYT/SSX2 type of the t(X;18) translocation. Primary spindle cell neoplasms of the duodenum are rare and consist mostly of gastrointestinal stromal tumors, which are amenable to the therapy with Gleevec. Synovial sarcoma widens the differential diagnosis of mesenchymal tumors of the intestine.

The histopathological differential diagnosis of mesenchymal tumours of the skin

Summary In addition to the broad spectrum of epithelial, neuroectodermal and lymphoreticular neoplasms arising in the skin, a wide variety of mesenchymal tumours are characterised by a primary cutaneous presentation. Benign and malignant mesenchymal tumours represent a heterogeneous and complex group of lesions that are currently classified on a histogenetic basis according to the mature tissues they might resemble. While histomorphological assessment remains the cornerstone of tumour classification, the continuing technical developments in the fields of immunohistochemistry and (cyto)genetics have become increasingly useful in aiding accurate histopathological classification of problematic cases. It is our aim in this short review to discuss the spectrum of mesenchymal lesions commonly presenting in the skin with special emphasis on the diagnostic dilemmas that a subset of these tumours may present in daily practice.

Diagnosis of soft tissue tumors by fine-needle aspiration with combined cytopathology and ancillary techniques.

The diagnosis of mesenchymal neoplasm by fine-needle aspiration biopsy (FNAB) has presented a diagnostic challenge. Most reports claim an accuracy approaching 95%, but while they distinguish benign and malignant lesions, the most problematic group, the intermediary malignant group, is omitted. The purpose of this study was to determine whether rapid cytologic diagnosis of soft-tissue tumors could guide surgeons in therapeutic decisions without the need for a tissue biopsy. Ninety-four FNA cytologic specimens were examined by the National Soft Tissue Consortium of Hungary and compared with the corresponding histology. Ordinary lipomas were excluded. Morphologic evaluation was supplemented by ancillary techniques such as fluorescence in situ hybridization (FISH), DNA cytometry, and immunocytochemistry. From a practical clinicopathological point of view, the cases were grouped in the following categories: 1) tumors with definitive diagnosis: a) high-grade malignant neoplasms (high-grade sarcomas, metastatic carcinomas, lymphoma), b) tumors with precise histogenetic origin by cytogenetics, c) benign tumors; 2) tumors of questionable nature. In the first group there were 74 tumors: 22 high-grade sarcomas, six metastatic carcinomas, one malignant lymphoma, 16 malignant tumors in which the precise histogenetic origin could be established by cytogenetic studies, and 29 benign soft-tissue tumors other than lipomas. In the second group there were 20 tumors comprising benign and malignant soft tissue tumors of low grade, wherein the precise nature of the neoplasm could not be established with confidence on cytologic study, even using ancillary techniques. FNAB of soft-tissue tumors combined with ancillary techniques should be considered a viable diagnostic technique for therapeutic protocols. Although the second group is fairly large, we have reliable, well-characterized categories which provide great freedom for preoperative and surgical treatment, thus providing the best chance for healing.

The value of gastric cytology in the diagnosis of mesenchymal tumors.

Gastric cytologic studies were performed in 1 patient with lymphosarcoma and 1 with reticulum-cell sarcoma.