^
1d
Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors. (PubMed, Genes Chromosomes Cancer)
This is the first reported case series of soft tissue tumors harboring LTK fusion, expanding the molecular landscape of soft tissue tumors driven by activating kinase fusions. Furthermore, studies involving a larger number of cases and integrated genomic analyses will be warranted to fully elucidate the pathogenesis and classification of these tumors.
Journal
|
CD34 (CD34 molecule) • LTK (Leukocyte Receptor Tyrosine Kinase)
2d
Primary NTRK-rearranged Spindle Cell Neoplasm of the Gastrointestinal Tract: A Clinicopathological and Molecular Analysis of 8 Cases. (PubMed, Am J Surg Pathol)
One patient was succumbed to the disease at 12 months despite adjunctive treatment with TRK inhibitor larotrectinib after surgery...The final diagnosis relies on molecular assays. Patients with advanced disease may benefit from TRK inhibitor treatment.
Journal
|
NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • STRN (Striatin) • TPM3 (Tropomyosin 3) • CD34 (CD34 molecule) • LMNA (Lamin A/C) • NTRK (Neurotrophic receptor tyrosine kinase)
|
NTRK1 fusion • NTRK2 fusion • NTRK expression
|
Vitrakvi (larotrectinib)
8d
Utility of LEF1 to differentiate desmoid fibromatosis from its histologic mimics. (PubMed, Virchows Arch)
Positivity for LEF1 and β-catenin in combination showed sensitivity of 89%, lower than the sensitivity of β-catenin alone (94%); however, the combination of both LEF1 and β-catenin improved specificity (96%) compared to the specificity of β-catenin alone (88%). Although LEF1 has imperfect specificity in isolation, this stain has diagnostic utility when used in combination with β-catenin.
Journal
|
LEF1 (Lymphoid Enhancer Binding Factor 1)
20d
Detection of MDM2 gene amplification by fluorescence in situ hybridization and its diagnostic value in low-grade osteosarcoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
The interpretation criteria for FISH detection of MDM2 amplification are currently not unified. The signal characteristics need more attention when interpreting.
Journal
|
MDM2 (E3 ubiquitin protein ligase)
|
MDM2 amplification
22d
The utility of clinical sequencing in the diagnosis and treatment of soft tissue sarcomas; Real world data based on nation-wide database (AACR 2024)
From 2019 to 2022, 1387 patients with STS were registered in C-CAT. The histological types included leiomyosarcoma in 357 patients, dedifferentiated liposarcoma in 178 patients, and undifferentiated pleomorphic sarcoma in 82 patients, and the others. The most commonly altered genes included TP53, CDKN2A, Rb1, and CDKN2B.
Clinical • Real-world evidence • Tumor mutational burden • MSi-H Biomarker • Real-world
|
TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BCOR (BCL6 Corepressor) • EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • NTRK (Neurotrophic receptor tyrosine kinase) • DUX4 (Double Homeobox 4)
|
TMB-H • MSI-H/dMMR • NTRK fusion
|
FoundationOne® CDx
26d
ARST2031: A Study to Compare Early Use of Vinorelbine and Maintenance Therapy for Patients With High Risk Rhabdomyosarcoma (clinicaltrials.gov)
P3, N=118, Recruiting, Children's Oncology Group | Trial completion date: Dec 2027 --> Sep 2027 | Trial primary completion date: Dec 2027 --> Sep 2027
Trial completion date • Trial primary completion date
|
FOXO1 (Forkhead box O1)
|
cyclophosphamide • vincristine • dactinomycin • Navelbine oral (vinorelbine tartrate oral)
26d
NCI-2019-08556: Nivolumab and BO-112 Before Surgery for the Treatment of Resectable Soft Tissue Sarcoma (clinicaltrials.gov)
P1, N=14, Active, not recruiting, Jonsson Comprehensive Cancer Center | Trial completion date: Jan 2025 --> Jan 2026 | Trial primary completion date: Jan 2024 --> Jan 2025
Trial completion date • Trial primary completion date • Surgery
|
Opdivo (nivolumab) • polyinosinic:polycytidylic acid (BO-112)
27d
The utility of FISH analysis in the diagnosis of BCOR-rearranged sarcomas. (PubMed, Pathol Res Pract)
Our study indicates that BCOR FISH analysis using an IVD probe, may be useful to detect the presence of a BCOR rearrangement, including both translocations and inversions; however, negative results, in some cases, can occur.
Journal
|
BCL6 (B-cell CLL/lymphoma 6) • BCOR (BCL6 Corepressor)
28d
Magnetic Resonance Imaging Features of Congenital Infantile Fibrosarcoma. (PubMed, Cureus)
Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.
Journal • MRI
|
NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)
|
NTRK3 fusion • ETV6-NTRK3 fusion
30d
A case of fat-forming solitary fibrous tumor that is prone to be confused with liposarcoma. (PubMed, Diagn Pathol)
Based on these findings, the final diagnosis was determined to be a fat-forming solitary fibrous tumor located in the retroperitoneum. It is important to consider other potential differential diagnoses, including angiomyolipoma, dedifferentiated liposarcoma, spindle cell lipoma, and atypical lipomatous tumor/well-differentiated liposarcoma.
Journal
|
CD34 (CD34 molecule) • STAT6 (Signal transducer and activator of transcription 6)
1m
Granulation tissue-like spindle cell (sarcomatoid) carcinoma of the head and neck: a deceptively bland-looking underdiagnosed malignancy. (PubMed, Virchows Arch)
The diagnosis of granulation tissue-like SC-SCC is challenging due to the close clinical and histological overlap with several benign conditions. Since the expression of epithelial markers is limited, the use of an immunohistochemical panel including p53 is recommended.
Journal
|
ALK1 (Activin A Receptor Like Type 1) • TP63 (Tumor protein 63)
1m
A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report. (PubMed, Pediatr Dev Pathol)
This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.
Journal
|
PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
1m
A case of superficial CD34 positive fibroblastic tumor: Diagnostic challenges and pitfalls. (PubMed, Indian J Pathol Microbiol)
A constellation of clinicoradiological profiles, IHC features, and sometimes molecular studies clinch the definitive diagnosis which can be helpful in avoiding overtreatment and chemotherapy. Here we highlight the diagnostic challenges and pitfalls in a case of SCPFT.
Journal
|
CD34 (CD34 molecule)
|
CD34 positive
1m
Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18∷SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review. (PubMed, Indian J Pathol Microbiol)
This constitutes one of the few reported cases of vulvar SS, confirmed by molecular testing and the first documented vulvar SS showing a mosaic pattern of INI1/SMARCB1 immunostaining. A review of the literature and diagnostic implications are presented herewith.
Review • Journal
|
SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD34 (CD34 molecule) • SOX10 (SRY-Box 10) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) • SSX1 (SSX Family Member 1) • S100P (S100 calcium binding protein P)
1m
Benzophenone-3 alters expression of genes encoding vascularization and epithelial-mesenchymal transition functions during Trp53-null mammary tumorigenesis. (PubMed, Food Chem Toxicol)
Among the genes altered in expression, Timp1 is of particular interest because benzophenone-3 suppressed both migration and Timp1 expression in a mammary tumor cell line that displays epithelial to mesenchymal transition characteristics. These alterations in gene expression plausibly stabilize the vasculature of epithelial carcinomas and contribute to benzophenone-3 promotion of epithelial tumors, while at the same time suppress epithelial to mesenchymal transition and suppress incidence of spindle cell tumors.
Journal
|
TP53 (Tumor protein P53) • TIMP1 (Tissue inhibitor of metalloproteinases 1)
|
KIM1 expression • TIMP1 expression
1m
CD30 expression in an emerging group of mesenchymal spindle cell neoplasms with ALK fusion detected by flow cytometry and immunohistochemistry. (PubMed, Genes Chromosomes Cancer)
The patient showed significant tumor response to single-agent treatment with alectinib, an ALK-tyrosine kinase inhibitor...The benefit of the early detection of CD30 expression by FCM for a prompt diagnosis and treatment is highlighted in the context of an aggressive clinical course. This case represents a learning experience regarding the need to the check the status of CD30 expression in these tumors and suggests the potential clinical benefits of CD30-targeted therapy.
Journal
|
BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TNFRSF8 (TNF Receptor Superfamily Member 8) • CD34 (CD34 molecule) • NTRK (Neurotrophic receptor tyrosine kinase) • PLEKHH2 (Pleckstrin Homology, MyTH4 And FERM Domain Containing H2)
|
ALK rearrangement • ALK fusion • TNFRSF8 expression • CD34 positive • NTRK fusion
|
Alecensa (alectinib)
1m
Characterizing sarcoma molecular landscape by nanopore adaptive sampling sequencing (Sarcoma-RC 2024)
Sarcoma panel Nanopore adaptive sampling can diagnose rare sarcoma types, such as FUS translocated Ewing's sarcoma, and aid in characterizing the molecular landscape. Furthermore, Nanopore analysis may facilitate blood-based tumor markers. Additional testing of a diverse sarcoma cohort is needed to evaluate the clinical utility of this approach.
NF2 (Neurofibromin 2) • FUS (FUS RNA Binding Protein)
|
NF2 mutation
|
FoundationOne® CDx
1m
Spindle cell carcinoma of male breast: Report of a rare case. (PubMed, J Cancer Res Ther)
p63, beta-catenin, and CD34 were negative. The patient subsequently received adjuvant chemotherapy with 5-fluorouracil, adriamycin, and cyclophosphamide regimen and was disease-free at 1-year follow-up.
Journal
|
CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CD34 (CD34 molecule) • VIM (Vimentin) • TP63 (Tumor protein 63)
|
5-fluorouracil • doxorubicin hydrochloride • cyclophosphamide
1m
Transumbilical Endoscopic Resection of Intra-abdominal Mesenchymal Tumor. (PubMed, J Vis Exp)
Immunohistochemistry revealed positive staining for CD34 and CD117, negative staining for SMA, positive staining for DOG1, and negative staining for S100. Additionally, the expression of ki67 was 3%.
Journal
|
KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule) • ANO1 (Anoctamin 1)
1m
A clinical case of piloleiomyoma (PubMed, Stomatologiia (Mosk))
The index of proliferative activity was less than 2%, mitoses were isolated. Thus, the results of immunohistochemical study proved the conclusion of piloleiomyoma.
Journal
|
CD34 (CD34 molecule)
1m
EWSR1::CREM Fusion: A New Finding in Thoracic and Head/Neck Squamous Cell Carcinoma (USCAP 2024)
Our study broadens the spectrum of tumors associated with EWSR1::CREM rearrangement and is the first to document its presence in SCCs of the lung and head and neck. While there is no specific standardized approach to treatment for patients whose tumors have these translocations, it is noteworthy that all three patients in this series are alive despite the presence of metastases and, in some instances, the absence of therapy over several years. Identification of additional cases will be helpful to better understand the disease course and optimal therapy of SCC harboring the EWSR1::CREM fusion.
EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • TP63 (Tumor protein 63) • CREM (CAMP Responsive Element Modulator)
|
MI Tumor Seek™
1m
Myxoid neurofibroma masquerading as lymphatic-venous malformation and poses a diagnostic challenge on fine needle aspiration biopsy. (PubMed, Diagn Cytopathol)
We aim to highlight the importance of considering myxoid neurofibroma in the differential diagnosis of hypocellular myxoid spindle cell lesions encountered on fine-needle aspiration cytology.
Journal • Biopsy
|
CD34 (CD34 molecule)
2ms
Fibro-osseous pseudotumor of the digits: One of USP6-related fibroblastic/myofibroblastic tumors (PubMed, Ann Pathol)
The histopathological examination of the surgical excision biopsy of the lesion revealed a spindle-shaped proliferation within a sclerosing, hyaline, and osteoid stroma. In our observation, immunohistochemistry and molecular biology are the main elements that helped to establish the diagnosis and eliminate the various differential diagnoses, despite a non-specific histopathological aspect.
Journal
|
USP6 (Ubiquitin Specific Peptidase 6)
2ms
Comprehensive clinicopathological, molecular, and methylation analysis of mesenchymal tumors with NTRK and other kinase gene aberrations. (PubMed, J Pathol)
© 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland
Journal
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CD34 (CD34 molecule) • NTRK (Neurotrophic receptor tyrosine kinase) • CAPZA2 (Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2) • WWP2 (WW Domain Containing E3 Ubiquitin Protein Ligase 2)
|
EGFR mutation • BRAF mutation • MET fusion • BRAF mutation + EGFR mutation
|
Vitrakvi (larotrectinib) • Rozlytrek (entrectinib) • Retevmo (selpercatinib)
2ms
Clinicopathological and survival analysis of primary spindle cell carcinoma of the breast in Chinese patients. (PubMed, Am J Cancer Res)
T stage was an indicator of prognosis for OS. Better treatments need to be explored to prevent recurrence and improve survival.
Journal
|
HER-2 (Human epidermal growth factor receptor 2)
|
HER-2 negative
2ms
Gastric Perineurioma: A Rare Entity with Molecular Analysis and Literature Review. (PubMed, Int J Surg Pathol)
This rare case of gastric perineurioma helps solidify our understanding of how to discern various types of gastric neoplasms through traditional laboratory analysis alongside genetic sequencing approaches. Although extremely rare, gastric perineurioma should be kept in the differential diagnosis when assessing spindle cell gastric tumors to avoid unnecessary therapies, and physicians should understand the molecular characteristics of benign versus malignant tumors.
Review • Journal
|
BRAF (B-raf proto-oncogene)
2ms
ALK-Rearranged Epithelioid and Spindle Cell Neoplasm of the Sinonasal Tract. (PubMed, Int J Surg Pathol)
Subsequent next-generation sequencing (RNA-seq) identified a rare PLEKHH2exon6::ALKexon20 fusion. This study further demonstrates the importance of molecular profiling in identifying kinase fusion-positive soft tissue tumors, particularly for those that arise at unusual sites and display atypical cytomorphology.
Journal
|
ALK (Anaplastic lymphoma kinase) • TNFRSF8 (TNF Receptor Superfamily Member 8) • CD34 (CD34 molecule)
|
ALK rearrangement
2ms
Malignant peripheral nerve sheath tumor in the kidney of a dog. (PubMed, J Vet Med Sci)
Therefore, the mass was diagnosed as a malignant peripheral nerve sheath tumor (MPNST). To our knowledge, this is the first report of primary renal MPNST in a dog.
Journal
|
VIM (Vimentin) • NGFR (Nerve Growth Factor Receptor)
|
VIM expression
2ms
Cytohistological findings and diagnostic challenges in rare pediatric pulmonary mesenchymal malignancies: A report of two cases. (PubMed, Diagn Cytopathol)
Molecular studies with reverse transcription-PCR (RT-PCR) for SYT-SSX and EWS-FLI1 were negative for synovial sarcoma and Ewing's sarcoma, respectively. Given the clinical setting, PAS positivity, IHC, and molecular studies, the diagnosis of tumors of uncertain differentiation with the possibility of Ewing's sarcoma family of tumors (ESFT) with a translocation between EWS1 and other ETS-family members (ERG, FEV, ETV1, E1AF, etc.) was suggested.
Journal
|
ALK (Anaplastic lymphoma kinase) • BCL2 (B-cell CLL/lymphoma 2) • EWSR1 (EWS RNA Binding Protein 1) • ETV1 (ETS Variant Transcription Factor 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • CD99 (CD99 Molecule)
3ms
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population. (PubMed, Clin Epigenetics)
DNAm profiling is a useful tool in diagnostic work-up of MPNSTs. Its application in a retrospective series collected during pre-molecular era contributed to classify morphologic mimics. The methylation group MPNST-like is a 'hybrid' category in pediatrics including high-grade and low-grade tumors mainly characterized by TRK alterations.
Journal • Epigenetic controller
|
CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BCOR (BCL6 Corepressor) • DICER1 (Dicer 1 Ribonuclease III) • MYOD1 (Myogenic Differentiation 1)
3ms
Sarco/endoplasmic reticulum calcium ATPase 3 (SERCA3) expression in gastrointestinal stromal tumours. (PubMed, Pathology)
In conclusion, SERCA3 immunohistochemistry may be useful for the diagnosis of GIST with high confidence, when used as a third marker in parallel with KIT and DOG1. Moreover, SERCA3 immunopositivity may be particularly helpful in cases with negative or weak KIT or DOG1 staining, a situation that may be encountered de novo, or during the spontaneous or therapy-induced clonal evolution of GIST.
Journal • Stroma
|
KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ANO1 (Anoctamin 1)
|
PDGFRA mutation
3ms
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors. (PubMed, Cancer Sci)
NF1-GISTs involved multifocal spindle cell tumors in the small intestine. SDH-GISTs occurred in young patients and were multifocal in the stomach and clinically indolent.
Journal • Stroma
|
BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CHEK2 (Checkpoint kinase 2) • CREBBP (CREB binding protein) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
|
TP53 mutation • BRAF V600E • BRAF V600 • NF1 mutation • CHEK2 mutation • PDGFRA mutation • SDHB mutation • PDGFR wild-type
3ms
NTRK-rearranged spindle cell sarcoma of the uterine cervix with a novel NUMA1::NTRK1 fusion. (PubMed, Virchows Arch)
The resulting fusion protein comprises the oligomerization domain of NUMA1, which is predicted to cause constant activation of the tyrosine kinase domain of NTRK1. The recognition and accurate diagnosis of these tumours are important due to the availability of potential targeted therapeutic options.
Journal
|
NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK (Neurotrophic receptor tyrosine kinase)
|
NTRK1 fusion • NTRK fusion
|
FusionPlex® Pan Solid Tumor v2 panel
3ms
Rhabdomyosarcoma: Updates on classification and the necessity of molecular testing beyond immunohistochemistry. (PubMed, Hum Pathol)
New subtypes such as osseus RMS harboring TFCP2/NCOA2 fusions or RMS arising in inflammatory rhabdomyoblastic tumor have been emerging within the last decade, adding to the complexity of diagnosing skeletal muscle tumors. This review article provides an overview of classically recognized distinctive subtypes as well as new, evolving subtypes and discusses important morphologic, immunophenotypic and molecular genetic features of each subtype including recommendations for a diagnostic approach of malignant skeletal muscle neoplasms.
Review • Journal
|
TFCP2 (Transcription Factor CP2) • NCOA2 (Nuclear Receptor Coactivator 2)
3ms
SWOG S1609: Nivolumab and Ipilimumab in Treating Patients With Rare Tumors (clinicaltrials.gov)
P2, N=818, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Oct 2024 --> May 2026 | Trial primary completion date: Oct 2024 --> May 2026
Trial completion date • Trial primary completion date
|
CD4 (CD4 Molecule)
|
PD-L1 overexpression • PD-L1 amplification
|
Opdivo (nivolumab) • Yervoy (ipilimumab) • ABP 206 (nivolumab biosimilar)
3ms
Comprehensive molecular analysis of driver mutations in non-small cell lung carcinomas and its correlation with PD-L1 expression, An Indian perspective. (PubMed, Pathol Res Pract)
This is one of the largest cohorts of NSCLC for comprehensive targeted mutational profiling and correlation with the PD-L1 expression. The mutations are more prevalent in non-smoker females for all genes, except ALK (non-smoker males). MET and BRAF mutations are more common in elderly population whereas EGFR mutations, and ALK and ROS1 genes rearrangements are more prevalent in younger population. The most common histopathologic subtype/feature associated with various mutations was as follows: acinar with EGFR, solid with ALK, macronucleoli with ROS1, signet ring with MET, and micropapillary with BRAF.
Journal • PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)
|
PD-L1 expression • BRAF V600E • KRAS mutation • EGFR mutation • BRAF V600 • EGFR L858R • EGFR exon 19 deletion • EGFR T790M • ALK rearrangement • MET exon 14 mutation • PD-L1 negative • EGFR L861Q • ALK mutation • ROS1 rearrangement • EGFR G719X • MET mutation • EGFR S768I
4ms
Journal
|
NTRK (Neurotrophic receptor tyrosine kinase)
4ms
Clinicopathological Characteristics of Three Cases with Recurrent Orbital Solitary Fibrous Tumors: A Retrospective Study and Literature Review. (PubMed, Altern Ther Health Med)
These results suggested that young patients were more likely subjected to recurrent orbital SFT. The postoperative pathological diagnosis revealed that patients with recurrent orbital SFT had more nuclear abnormalities and mitotic activity, as well as a higher percentage of Ki-67-positive cells, indicating that orbital recurrent SFT tended to be malignant according to both morphological features and immunohistochemistry results.
Retrospective data • Review • Journal
|
CD34 (CD34 molecule)
4ms
KMT2A-rearranged sarcoma with unusual fusion gene CBX6::KMT2A::PYGO1. (PubMed, Virchows Arch)
Although highly likely irreproducible, tumors with the CBX6::KMT2A::PYGO1 fusion gene were morphologically somewhat different from those containing the YAP1::KMT2A::YAP1. This suggests that KMT2A rearrangements with fusion gene partners different from YAP1 result in purely spindle-shaped cell tumors that produce collagen fibers.
Journal
|
KMT2A (Lysine Methyltransferase 2A) • YAP1 (Yes associated protein 1) • CBX6 (Chromobox 6)
|
KMT2A rearrangement • MLL rearrangement
4ms
High-Grade Spindle Cell Sarcoma of the Scalp With an MGA::NUTM1 Gene Fusion in a Pediatric Patient. (PubMed, Am J Dermatopathol)
In contrast to typical cases of spindle cell carcinomas or NC, NUTM1 fusion-positive sarcomas are associated with a better prognosis. This report highlights the importance of diagnostic workup of undifferentiated neoplasms, as identification of the MGA::NUTM1 fusion in spindle cell sarcoma could be used in treatment algorithms and lead to better outcomes, to the benefit of patients.
Journal
|
BRD4 (Bromodomain Containing 4) • MGA (MAX Dimerization Protein MGA) • NUTM1 (NUT Midline Carcinoma Family Member 1) • BRD3 (Bromodomain Containing 3)
4ms
Expanding the molecular landscape of undifferentiated sarcomas of bone with a novel EWSR1-SSX3 gene fusion. (PubMed, Genes Chromosomes Cancer)
The patient received neoadjuvant chemotherapy followed by surgery and subsequently relapsed in less than a year with lung metastasis. Larger series are needed to determine if this fusion defines a novel subset of undifferentiated tumors or represents a genomic variant of already existing primitive round cell sarcoma categories, such as Ewing sarcoma or synovial sarcoma.
Journal
|
CCND1 (Cyclin D1) • WT1 (WT1 Transcription Factor) • EWSR1 (EWS RNA Binding Protein 1) • CD99 (CD99 Molecule) • SYP (Synaptophysin)
4ms
PATZ1-rearranged tumors of the central nervous system: characterization of a pediatric series of seven cases. (PubMed, Mod Pathol)
One patient of the SM-group developed spinal metastases at 26 months from diagnosis and is currently receiving multimodal therapy (42 months). Our data suggest that PATZ1-CNS tumors are defined by chromosome 22 chromothripsis as causative of PATZ1 fusion, show peculiar MRI features (e.g., relation to lateral ventricles, supratentorial frequently posterior site), and, although epigenetically homogeneous, encompass 2 distinct histological and transcriptional subgroups.
Journal
|
EWSR1 (EWS RNA Binding Protein 1) • PATZ1 (POZ/BTB And AT Hook Containing Zinc Finger 1)