Fusion of Platelet Derived Growth Factor Receptor Alpha () With Ubiquitin Specific Peptidase 8 () in a Calcified Chondroid Mesenchymal Neoplasm Harboring t(4;15)(q12;q21) as a Sole Aberration.

Background/aim: The term "calcified chondroid mesenchymal neoplasm" was introduced in 2021 to describe a group of tumors characterized by various morphological features, including the formation of cartilage or chondroid matrix. These tumors frequently carry chimeric genes where the 5'-end partner gene is fibronectin 1 and the 3'-end partner gene codes for receptor tyrosine kinase. Our study explores fusion of the genes platelet-derived growth factor receptor alpha (PDGFRA) and ubiquitin-specific peptidase 8 (USP8) in calcified chondroid mesenchymal neoplasm.

Ewing sarcoma of the temporal bone with aneurysmal bone cyst-like changes: A rare case report with an unusual radiological presentation.

Ewing sarcoma (ES) is a malignant small round cell tumor, accounting for 10-15% of all primary bone tumors and approximately 3% of all pediatric cancers. Primary ES of the cranial bone is unusual with reported incidence from 1% to 6% of all ES cases. This report shows a rare case of primary ES of the squamous temporal bone in a 12-year-old boy with a history of swelling of the right temporal region and symptoms of increased intracranial pressure.

Fusion of the Genes for Interferon Regulatory Factor 2 Binding Protein 2 () and Caudal Type Homeobox 1 () in a Chondrogenic Tumor.

Background/aim: Chondrogenic tumors are benign, intermediate or malignant neoplasms showing cartilaginous differentiation. In 2012, we reported a mesenchymal chondrosarcoma carrying a t(1;5)(q42;q32) leading to an IRF2BP2::CDX1 fusion gene. Here, we report a second chondrogenic tumor carrying an IRF2BP2::CDX1 chimera.

Pathogenetic Dichotomy in Angioleiomyoma.

Background/aim: Angioleiomyoma is a benign tumor, occurs at any age, and arises most frequently in the lower extremities. Genetic information on angioleiomyomas is restricted to six reported abnormal karyotypes, losses in chromosome 22 and gains in Xq found by comparative genomic hybridization, and mutation analysis of notch receptor 2 (NOTCH2), NOTCH3, platelet-derived growth factor receptor beta (PDGFRB), and mediator complex subunit 12 (MED12) in a few tumors. Herein, we report the genetic findings in another three angioleiomyomas.

Recurrent 8q11-13 Aberrations Leading to Rearrangements, Including Novel Chimeras and , in Lipomatous Tumors.

Background/aim: Structural abnormalities of chromosome bands 8q11-13, resulting in rearrangement of the pleomorphic adenoma gene 1 (PLAG1), are known to characterize lipoblastoma, a benign fat cell tumor, found mainly in children. Here, we describe 8q11-13 rearrangements and their molecular consequences on PLAG1 in 7 lipomatous tumors in adults.

Materials And Methods: The patients were 5 males and 2 females between 23 and 62 years old.

Chromosome Translocation t(10;19)(q26;q13) in a CIC-sarcoma.

Background/aim: CIC-sarcomas are characterized by rearrangements of the capicua transcriptional repressor (CIC) gene on chromosome subband 19q13.2, generating chimeras in which CIC is the 5'-end partner. Most reported CIC-sarcomas have been detected using PCR amplifications together with Sanger sequencing, high throughput sequencing, and fluorescence in situ hybridization (FISH).

A woman in her fifties with a lump in the palm of her hand.

A previously healthy woman in her fifties contacted her general practitioner due to a troublesome lump on her hand that had progressed over the course of a year. The final diagnosis surprised those involved and serves as a reminder to both general practitioners and specialists.

Fusion of High Mobility Group AT-hook 2 Gene () With the Chromosome 12 Open Reading Frame 42 Gene () in an Aggressive Angiomyxoma With del(12)(q14q23) as the Sole Cytogenetic Anomaly.

Background/aim: Aggressive angiomyxomas are mostly found in the pelvic and perineal region and are prone to recur after surgery. Cytogenetic information is available on only nine such tumors. Herein, we report the cytogenetic anomaly and its molecular consequence in another aggressive angiomyxoma.

Chromosomal Translocation t(5;12)(p13;q14) Leading to Fusion of High-mobility Group AT-hook 2 Gene With Intergenic Sequences From Chromosome Sub-Band 5p13.2 in Benign Myoid Neoplasms of the Breast: A Second Case.

Background/aim: Recently, we reported a myoid hamartoma carrying a t(5;12)(p13;q14) karyotypic aberration leading to fusion of the high-mobility group AT-hook 2 (HMGA2) gene with a sequence from chromosome sub-band 5p13.2. We describe here another benign myoid tumor of the breast with identical genetic aberrations.

Real-world evidence on perioperative chemotherapy in localized soft tissue sarcoma of the extremities and trunk wall; a population-based study.

Background: Data from the real-world setting on perioperative chemotherapy in high-risk, localized soft tissue sarcoma (STS) is limited. Real-world data (RWD) includes data derived from patients treated outside clinical trials and often captures long-term follow-up not recorded in clinical trials. The aim of this study was to provide population-based, real-world evidence on perioperative chemotherapy in localized STS.

Cytogenetic and molecular analyses of 291 gastrointestinal stromal tumors: site-specific cytogenetic evolution as evidence of pathogenetic heterogeneity.

Gastrointestinal stromal tumor (GIST) is a mesenchymal neoplasm with variable behavior. An increased understanding of the tumor pathogenesis may improve clinical decision-making. Our aim was to obtain more data about the overall chromosome aberrations and intratumor cytogenetic heterogeneity in GIST.

Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 () and Nuclear Receptor Co-repressor 2 () in Osteoclastic Giant Cell-rich Tumors of Bone.

Background/aim: Chimeras involving the high-mobility group AT-hook 2 gene (HMGA2 in 12q14.3) have been found in lipomas and other benign mesenchymal tumors. We report here a fusion of HMGA2 with the nuclear receptor co-repressor 2 gene (NCOR2 in 12q24.

Aneurysmal bone cyst and osteoblastoma after neoadjuvant denosumab: histologic spectrum and potential diagnostic pitfalls.

The use of denosumab to treat giant cell tumors of bone (GCT) and other giant cell-containing bone tumors has become more common. While the clinicopathologic features of denosumab-treated giant cell tumors of bone have been well-illustrated, descriptions of other denosumab-treated bone tumors are very limited. Surgical pathology files of two institutions and consultation files from two authors were searched for denosumab-treated aneurysmal bone cysts and denosumab-treated osteoblastomas.

Several Fusion Genes Identified in a Spermatic Cord Leiomyoma With Rearrangements of Chromosome Arms 3p and 21q.

Background/aim: Benign smooth-muscle tumors, leiomyomas, occur in nearly every organ but are most common in the uterus. Whereas much is known about the genetics of uterine leiomyomas, little genetic information exists about leiomyomas of other organs. Here, we report and discuss the genetic findings in a para-testicular leiomyoma.

Integrating Anatomical, Molecular and Clinical Risk Factors in Gastrointestinal Stromal Tumor of the Stomach.

Background: Adjuvant imatinib for 3 years is recommended to patients with high-risk gastrointestinal stromal tumor (GIST). Risk stratification is inaccurate, and risk assessments are further complicated by the increased use of neoadjuvant treatment. Anatomical criteria for prognostication have not been investigated.

Pembrolizumab in advanced osteosarcoma: results of a single-arm, open-label, phase 2 trial.

Aim: To evaluate the activity and safety of the PD-1 antibody pembrolizumab in adult patients with advanced osteosarcoma.

Material And Methods: The study was a single-arm, open-label, phase 2 trial in patients with unresectable, relapsed osteosarcoma. The primary endpoint was clinical benefit rate (CBR) at 18 weeks of treatment, defined as complete response, partial response, or stable disease using RECIST v1.

Fusion of the Lumican () Gene With the Ubiquitin Specific Peptidase 6 () Gene in an Aneurysmal Bone Cyst Carrying a t(12;17)(q21;p13) Chromosome Translocation.

Background/aim: Aneurysmal bone cyst is a benign bone lesion with a strong tendency to recur. The rearrangement of chromosome band 17p13/USP6 gene is now considered a characteristic genetic feature of aneurysmal bone cyst, with t(16;17)(q22;p13)/CDH11-USP6 as the most frequent chromosomal aberration/fusion gene. We report a novel variant translocation leading to a new fusion gene in an aneurysmal bone cyst.

Recurrent Fusion of the GRB2 Associated Binding Protein 1 () Gene With ABL Proto-oncogene 1 () in Benign Pediatric Soft Tissue Tumors.

Background/aim: Fusions of the ABL proto-oncogene 1 gene (ABL1 in 9q34) are common in leukemias but rare in solid tumors. The most notable is the t(9;22)(q34;q11)/BCR-ABL1 coding for a chimeric tyrosine kinase. We herein report an ABL1-fusion in a pediatric tumor.

Fusion of the Gene With in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation.

Background/aim: Hemangiomas are benign neoplastic proliferations of blood vessels. Cytogenetic information on hemangiomas is limited to four tumors with abnormal karyotypes. We report here a solitary chromosomal translocation and its molecular consequence in a hemangioma.

and Fusion Genes in Chondroid Syringoma.

Background/aim: Chondroid syringoma is a rare benign tumor emanating from sweat glands. Although rearrangements of the pleomorphic adenoma gene 1 (PLAG1) have been reported in such tumors, information on PLAG1 fusion genes is very limited.

Materials And Methods: Cytogenetic, fluorescence in situ hybridization, RNA sequencing, array comparative genomic hybridization, reverse transcription polymerase chain reaction, and Sanger sequencing analyses were performed on two chondroid syringoma cases.

and Fusion Genes in Osteoblastoma.

Background/aim: Osteoblastoma is a rare benign tumor of the bones in which recurrent rearrangements of FOS have been found. Our aim was to investigate two osteoblastomas for possible genetic aberrations.

Materials And Methods: Cytogenetic, RNA sequencing, and molecular analyses were performed.

Chronic Expanding Hematoma with a t(11;19)(q13;q13) Chromosomal Translocation.

Background/aim: Chronic expanding hematoma is defined as a hematoma that gradually expands over 1 month or longer, is without neoplastic features on histological sections, and does not occur in the setting of coagulopathy. The pathogenetic mechanism behind its development is unknown, nor is anything known about its genetic features.

Case Report: A 49-year-old man noted a tender lump close to the right femoral trochanter.

Is Peritoneal Tumor Penetration of Prognostic Importance in Gastrointestinal Stromal Tumors?

Background: Peritoneal tumor penetration (PP) strongly affects prognosis in gastrointestinal carcinomas. In gastrointestinal stromal tumor (GIST), its significance in the absence of tumor rupture has not been subjected to detailed analysis.

Methods: Patients undergoing complete resection for non-metastatic GIST from 2000 to 2017 were identified in the regional sarcoma database at Oslo University Hospital.