Surgery with radiotherapy is a standard choice for high-grade soft-tissue sarcoma; however, the indication of radiotherapy for low-grade soft-tissue sarcoma remains controversial due to an inherent low risk of distant metastasis and recurrence after surgery, as well as potential complications after surgery. Between 2007 and 2020, a total of 132 patients with low-grade soft-tissue sarcoma treated with pre-operative radiotherapy followed by surgical resection were examined. Pre-operative radiotherapy was administered with 50.4 Gy in 1.8 Gy fractions, with definitive surgery performed 4–8 weeks after completing pre-operative radiotherapy to allow inflammation to subside. Optimal methods for wound closure were performed by plastic surgeons, with the selective use of flap reconstructions (pedicled or free), skin grafts or direct closure. Diagnoses included well-differentiated liposarcoma/atypical lipomatous tumors (n = 66), myxoid liposarcoma (n = 31), leiomyosarcoma (n = 22), and others. After en-bloc (wide) resections, 78.8

ABSTRACT Targeted precision therapies are increasingly used in the treatment of individuals with vascular anomalies (VAs). This increases the need for rapid, accurate and inexpensive genetic diagnosis. Droplet digital polymerase chain reaction (ddPCR) is an alternative to next-generation sequencing (NGS), permitting rapid, highly sensitive interrogation of recurrent pathogenic mosaic variants. We examined the feasibility of ddPCR as a primary diagnostic tool in a large cohort of individuals with VAs. Lesional tissue was collected for ddPCR of up to 46 recurrent pathogenic variants across 16 genes associated with VAs. Specimens were assessed on a subset of assays for each individual based on clinical phenotype. Most individuals who had negative ddPCR results went on to high-depth gene panel or deep exome NGS, or Sanger sequencing. Here we report the phenotypic and molecular findings for 78 newly recruited and tested individuals in addition to the 60 individuals already reported from our cohort. The overall diagnostic yield for our cohort when combined with individuals previously reported was 104/138 (75%). Of 138 individuals tested, recurrent pathogenic variants were detected in 71 (51%) on ddPCR. Variants were most frequently identified in PIK3CA (n=28), TEK (n=18), GNAQ (n=12), or MAP2K1 (n=7). In a further 33 individuals, pathogenic variants were identified on NGS or Sanger sequencing. Our findings indicate that ddPCR is an efficient method achieving a high diagnostic yield in our cohort when used prior to sequencing.

AIMS:This study aimed to evaluate temporal trends in treatment patterns for localized soft tissue sarcomas (STSs) and identify factors associated with relapse-free survival (RFS) and overall survival (OS). METHODS:A retrospective cohort study was conducted using the Australian Comprehensive Cancer Outcomes and Research Database (ACCORD) and electronic health records from a high-volume sarcoma unit. Patients aged ≥18 years with grade 3, localized STS ≥5 cm diagnosed between 2013 and 2023 were included. The cohort was divided into two periods (2013-2017 and 2018-2023) to assess changes in treatment practices. Kaplan-Meier and Cox proportional hazards models evaluated RFS and OS. RESULTS:Among 202 patients, radiation use decreased in the late period (79% vs. 64%, p = 0.03), with a trend toward increased systemic therapy (8% vs. 16%, p = 0.13). Median RFS was 19 months (95% confidence interval [CI]: 14.9-26.0), with no significant difference between periods (hazard ratio [HR] 1.30, 95% CI: 0.93-1.82, p = 0.13). Median OS was 48 months (95% CI: 38.1-62.9), also showing no difference (HR 1.20, 95% CI: 0.80-1.78, p = 0.38). Radiotherapy improved RFS (HR 0.69, 95% CI: 0.49-0.98, p = 0.04) but not OS. Systemic therapy showed no RFS or OS benefit. Exploratory analyses identified age, tumor size, FDG-PET SUVmax, site, and Sarculator risk as prognostic factors. CONCLUSION:Treatment patterns evolved over time, reflecting emerging evidence, but no significant RFS or OS differences were observed. Further research is needed, including exploring prognostic factors like elevated baseline FDG-PET SUVmax.

Alveolar soft part sarcoma (ASPS) is a rare malignant soft tissue tumour, now definitively diagnosed by the identification of the ASPSCR1-TFE3 gene fusion, which results from the t(X;17)(p11.2;q25) translocation. Whilst this identification is a useful diagnostic tool, the justification for molecular testing still requires diagnostic suspicion through initial histological and immunohistochemical examination. Therefore, an understanding of the potential histological and immunohistochemical variants is helpful.

Fungi and mycobacteria are ubiquitous in our environment. Many organisms colonise skin, airways and other sites. Identifying organisms in tissue, along with the characteristic immune response to the organisms is essential in the diagnosis of fungal and mycobacterial infections. Morphological appearances of organisms are often non-specific, staining patterns, cultures and other methods, including molecular techniques are used to specifically identifying organisms. Host reaction patterns to specific organisms can vary from inactive, to purulent, to granulomatous and evolve over the course of the infection. Aspergillus is an example of fungus that produces a variety of reactions it can be a commensal, colonise a cavity, produce an allergic reaction or invade tissue and produce haemorrhagic necrosis. Tissue reaction to Mycobacteria Ulcerans changes over time with anergy, purulent and granulomatous phases, with organisms often located deep in the tissue. The diagnosis of Mycobacteria Leprae is often dependent on locating the organism in tissue .

Supplementary Table 1 from Mesenchymal-to-Epithelial Transition Facilitates Bladder Cancer Metastasis: Role of Fibroblast Growth Factor Receptor-2

Supplementary Table 2 from Mesenchymal-to-Epithelial Transition Facilitates Bladder Cancer Metastasis: Role of Fibroblast Growth Factor Receptor-2

Cysticercosis is a parasitic infection caused by Taenia solium, and occurs worldwide but is endemic to countries in Central and South America, Africa and various parts of Asia. Outside of endemic areas, common presentations included central nervous system infections and rarely muscle infections. We present a case report of a 32-year-old man presenting with a soft tissue lesion of his left trapezius muscle. The lesion was imaged with MRI and was suspected to be a sarcoma. The biopsy was performed, revealing the unusual finding of a parasitic organism, in keeping with Taenia solium. Of note, there was a latency period of approximately 10 years between suspected exposure and presentation. We discuss the radiological findings, histological findings and natural history of the disease. Cysticercosis is an unusual presentation of a soft tissue mass in a developed nation but given international travel, remains a differential diagnosis in patients with a history of international travel to endemic countries.

Gene fusions causing activation of various protein kinases including NTRK1-3, BRAF, RAF1 and RET have been recently recognised in soft tissue tumours.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar, 2Antonescu C.R. Dickson B.C. Swanson D. et al.Spindle cell tumors with RET gene fusions exhibit a morphologic spectrum similar to tumors with NTRK fusions.Am J Surg Pathol. 2019; 43: 1384-1391Crossref PubMed Scopus (68) Google Scholar, 3Antonescu C.R. Emerging soft tissue tumors with kinase fusions: an overview of the recent literature with an emphasis on diagnostic criteria.Genes Chromosomes Cancer. 2020; 59: 437-444Crossref PubMed Scopus (56) Google Scholar The first large series described 25 spindle cell tumours with CD34 and S100 co-expression without SOX10 reactivity, showing recurrent fusions in RAF1, BRAF and NTRK1/2 genes.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar These tumours involved 15 adults and 10 children with soft tissue involved in 23 and bones in only two, in the mandible and maxilla, both in children. The histology of these kinase-fusion positive tumours shows a spectrum ranging from lipofibromatosis-like neural tumour, spindle cell tumours with CD34 and S100 reactivity resembling low grade malignant peripheral nerve sheath tumours (MPNST), and infantile fibrosarcoma (IFS) and IFS-like lesions.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar,3Antonescu C.R. Emerging soft tissue tumors with kinase fusions: an overview of the recent literature with an emphasis on diagnostic criteria.Genes Chromosomes Cancer. 2020; 59: 437-444Crossref PubMed Scopus (56) Google Scholar The low grade lesions show low cellularity with bland spindle cells in a patternless or fascicular pattern, often with prominent stromal amianthoid and/or perivascular hyalinisation.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar,3Antonescu C.R. Emerging soft tissue tumors with kinase fusions: an overview of the recent literature with an emphasis on diagnostic criteria.Genes Chromosomes Cancer. 2020; 59: 437-444Crossref PubMed Scopus (56) Google Scholar These tumours have minimal to mild atypia, very few or no mitotic figures and no necrosis. However, some of the tumours described by Suurmeijer et al. had mixed low and high grade areas.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar In 2020, those tumours showing lipofibromatosis-like neural tumour, either pure or in hybrid form with part of the tumour showing lipofibromatosis-like neural tumour, were separated out into a distinct entity.4Kao Y.-C. Suurmeijer A.J.H. Argani P. et al.Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern.Genes Chromosome Cancer. 2020; 59: 575-583Crossref PubMed Scopus (47) Google Scholar Of the 36 patients in that study, 94% were aged 30 years or less and most tumours involved extremities or trunk, usually located in the dermis or subcutis.4Kao Y.-C. Suurmeijer A.J.H. Argani P. et al.Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern.Genes Chromosome Cancer. 2020; 59: 575-583Crossref PubMed Scopus (47) Google Scholar Associated gene fusions were largely NTRK1 (75%) but also RET, NTRK2, NTRK3, ROS1, ALK and MET.4Kao Y.-C. Suurmeijer A.J.H. Argani P. et al.Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern.Genes Chromosome Cancer. 2020; 59: 575-583Crossref PubMed Scopus (47) Google Scholar We describe the first case of a CD34 and S100 co-expressing spindle cell tumour with a BRAF-KIAA1549 fusion arising in a bone of an adult. A 73-year-old female presented with a 4-year history of right third metacarpal swelling. X-ray and computed tomography (CT) scan revealed an expansile lesion in the metacarpal involving almost the entire span of the bone, with a degree of bone loss in the dorsum of the bone. Magnetic resonance imaging (MRI) demonstrated the lesion was a lobulated mass replacing the third metacarpal shaft and head, measuring 28×23×49 mm. It showed intermediate T1 weighted signal, heterogeneous T2 weighted signal, and homogeneous post-contrast enhancement. A lobular portion of the lesion projected distally from the most dorso-radial aspect into the dorsal interval between second and third metacarpophalangeal joints with surrounding musculature effacement. Thallium demonstrated intense early accumulation with moderate retention. The patient underwent CT core biopsy of the lesion, which identified it as a low grade spindle cell tumour with diffuse strong co-expression of S100 protein and CD34 (Fig. 1). SOX10 immunohistochemistry was negative. A KIAA1549-BRAF fusion was detected by Trusight RNA fusion panel (Illumina, USA). She then underwent surgical management via a third ray amputation. In the distal third of the metacarpal an expansile, solid, tan intramedullary lesion measuring 43×24×21 mm was identified. This lesion demonstrated extensive replacement of bone by a proliferation of spindle cells arranged in short fascicles with perivascular and stromal keloidal collagen similar to the core biopsy. Some of the tumour was low grade with no mitotic figures and low cellularity with strong uniform reactivity for CD34 and S100 protein (Fig. 1). Other areas showed high cellularity with four mitotic figures/mm2 (Fig. 2). Immunohistochemistry showed differential staining between the low and high grade areas with loss of S100 protein or both in the higher grade areas (Fig. 2). Some small immature chondroid islands and focal anaplasia were noted (Fig. 2). No necrosis was identified. The tumour infiltrated into the soft tissue beyond the bone. Margins were clear and no post-operative radiotherapy was administered. The patient is well without evidence of recurrence at 21 months.Fig. 2(A) Low power view of areas of high cellularity alternating with less cellular areas (H&E). (B) Low power of S100 showing areas of absent S100 in both the low and high cellularity foci. (C) Low power of CD34 showing areas of absent CD34. (D) High power of highly cellular mitotically active component. (E) High power of highly cellular component with anaplasia. (F) High power of immature chondroid elements.View Large Image Figure ViewerDownload Hi-res image Download (PPT) Table 1 summarises reported S100+ CD34+ SOX10– spindle cell tumours with kinase fusions which do not have lipofibromatosis-like neural tumour pattern, infantile fibrosarcoma/fibrosarcoma pattern or prominent myopericytoma/haemangiopericytic pattern4Kao Y.-C. Suurmeijer A.J.H. Argani P. et al.Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern.Genes Chromosome Cancer. 2020; 59: 575-583Crossref PubMed Scopus (47) Google Scholar, 5Haller F. Knopf J. Ackerman A. et al.Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a myopericytic/haemangiopericytic pattern.J Pathol. 2016; 238: 700-710Crossref PubMed Scopus (106) Google Scholar, 6Suurmeijer A.J. Dickson B.C. Swanson D. et al.The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements.Genes Chromosome Cancer. 2019; 58: 739-746Crossref PubMed Scopus (74) Google Scholar but are low to intermediate grade spindle cell tumour mimicking low grade MPNST.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar,6Suurmeijer A.J. Dickson B.C. Swanson D. et al.The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements.Genes Chromosome Cancer. 2019; 58: 739-746Crossref PubMed Scopus (74) Google Scholar, 7Mok Y. Kimpo M.S. Chen H. et al.Spindle cell tumor with S100 and CD34 co-expression showing PDZRN3-RAF1 rearrangement – a recently described entity.Histopathology. 2019; 74: 1109-1111Crossref PubMed Scopus (13) Google Scholar, 8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google Scholar, 9Loong S. Lian D.W.Q. Kuick C.H. et al.Novel TFG-RET fusion in a spindle cell tumour with S100 and CD34 coexpression.Histopathology. 2020; 76: 333-338Crossref PubMed Scopus (13) Google Scholar, 10Sheng S.-J. Li J.-M. Zou Y.-F. et al.A low grade malignant soft tissue tumor with S100 and CD34 coexpression showing novel CDC42SE2-BRAF fusion with distinct features.Genes Chromosome Cancer. 2020; 59: 595-600Crossref PubMed Scopus (11) Google Scholar, 11Lopez-Nunez O. Surrey L.F. Alaggio R. et al.Novel PP1CB-ALK fusion in spindle cell tumor defined by S100 and CD34 coexpression and distinctive stromal and perivascular hyalinization.Genes Chromosome Cancer. 2020; 59: 495-499Crossref PubMed Scopus (22) Google Scholar, 12Penning A.J. Al-Ibraheemi A. Michal M. et al.Novel BRAF fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma.Mod Pathol. 2021; 34: 1530-1540Abstract Full Text Full Text PDF PubMed Scopus (26) Google Scholar Of 28 patients, there were equal numbers of males and females. Fifty percent were aged less than 30 years and 50% were older adults ranging from 35 to 77 years. Soft tissues were involved in 23/28 (82%), bones in 3/28 (11%) and viscera in 2/28 (7%). Sites affected included extremities in 15 (54%), trunk in eight (29%), head and neck in three (11%) and viscera in two (7%). Follow-up was available in 15 patients. Three (20%) died of or with disease at 25–375 months.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar,8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google Scholar Three (20%) were alive with disease at 27–60 months. Eight (53%) have no evidence of disease at 9–248 months. Two older adults (13%) had documented visceral metastases.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar,8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google ScholarTable 1Reported cases of S100+ CD34+ spindle cell tumours with protein kinase fusions excluding lipofibromatosis-like neural tumours, tumours with infantile fibrosarcoma/fibrosarcoma-like pattern and myopericytic patternCase(ref)Age (years)/sexLocationSize (cm)Gene fusion/rearrangementCellularityFollow-up11F 67Abdomen15PDZNR3-RAF1ICAWD (7 mo); lung, liver peritoneal metastases21M 41ThighNASLMAP-RAF1LCNA31F 2RectumNATMF1-RAF1LCNA41F 45BackNARAF1LCNED (36 mo)51M 10ThighNARAF1LCNA61F 38ShoulderNARAF1ICNED (9 mo)71F 27BackNARAF1LCNED (26 mo)81M 59Chest wallNARAF1ICNED (25 mo); surgery and RT91F 48HandNABRAFLCAWD (22 mo); persistent local disease101F 18ThighNABRAFICNA111M 13MaxillaNALMNA-NTRK1LCNED (648 mo)121M 4MandibleNALMNA-NTRK1LCNED (144 mo); surgery and RT131F 16Chest wallNALMNA-NTRK1ICNA141F 63Lower legNALMNA-NTRK1ICDOO (375 mo); lung metastases151M 18StomachNALMNA-NTRK1ICDOD (25 mo)161F 15ThighNALMNA-NTRK1LCNA171M 38WristNATPM3-NTRK1LCNED (16 mo)181M 35Chest wallNATPM3-NTRK1LCNA191F 17Chest wallNANTRK1LCNA201M 3ShoulderNANTRK1LCNA217M 4Thigh, IM6PDZRN3-RAF1ICNA228F 55Chest wall>6KIAA1549-BRAFICDWD (time NA) after CT, targeted therapyaTargeted therapy included bevacizumab, temsirolimus and sorafenib.239M 3 (congenital)Thigh4TFG-RETICNA2410M 52Forearm, IM focally into bone7.6CDC42SE2-BRAFICLR at 19 mo after intracapsular surgery; no response to crizotinib; amputation, then lost to follow-up2511M 47Shoulder, IM12PPP1CB-ALKLCNA2612 (Case6)M congenitalScalpNAEPB41L2-BRAFNAAWD (60 mo)276 (Case1)F 67Thigh4ETV6-NTRK3ICNA28bCurrent case.F 73Metacarpal4.3KIAA1549-BRAFICNED (21 mo)AWD, alive with disease; CT, chemotherapy; DOD, died of disease; DOO, died other causes; DWD, died with disease; F, female; IC, increased cellularity; IM, intramuscular; LC, low cellularity; LR, local recurrence; M, male; mo, months; NA, not available; NED, no evidence of disease; RT, radiotherapy; SC, subcutis.a Targeted therapy included bevacizumab, temsirolimus and sorafenib.b Current case. Open table in a new tab AWD, alive with disease; CT, chemotherapy; DOD, died of disease; DOO, died other causes; DWD, died with disease; F, female; IC, increased cellularity; IM, intramuscular; LC, low cellularity; LR, local recurrence; M, male; mo, months; NA, not available; NED, no evidence of disease; RT, radiotherapy; SC, subcutis. Recognition of this group of spindle cell tumours in soft tissue and bone by the unusual S100+ CD34+ S0X10– immunohistochemical profile is important so that investigation by an RNA fusion panel can be performed to look for BRAF, RAF1, RET, NTRK1-3, MET, ROS1 and ALK fusions. If these fusions are identified, there is potential for using specific kinase inhibitors such as BRAF and MEK inhibitors, NTRK inhibitors (entrectinib and larotrectinib), and crizotinib for ALK fusions. Efficacy has been demonstrated for these in soft tissue malignancies.3Antonescu C.R. Emerging soft tissue tumors with kinase fusions: an overview of the recent literature with an emphasis on diagnostic criteria.Genes Chromosomes Cancer. 2020; 59: 437-444Crossref PubMed Scopus (56) Google Scholar,8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google Scholar Some response has been reported in a high grade CD34+ S100+ spindle cell sarcoma with a KIAA1549-BRAF fusion to the combination targeted therapy comprising bevacizumab, temsirolimus and sorafenib.8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google Scholar Sorafenib is a protein kinase inhibitor with activity against many protein kinases, including VEGFR, PDGFR and RAF kinases.8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google Scholar Temsirolimus was included to inhibit the downstream mTOR pathway.8Subbiah V. Westin S.N. Wang K. et al.Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harbouring the KIAA1549-BRAF fusion protein.J Haematol Oncol. 2014; 7: 8Crossref PubMed Scopus (64) Google Scholar The finding of negative reactivity for SOX10 is critical to exclude a low grade MPNST which can mimic this group of tumours. However, MPNST often shows loss of H3K27me and there is often associated neurofibroma, history or concurrent diagnosis of NF1 or intimate association with a peripheral nerve on imaging or at surgery. The low grade cytology, low or absent mitotic activity and lack of necrosis in this group of CD34+ S100+ SOX10– spindle cell tumours may suggest a benign neoplasm, but even the low grade lesions have infiltrative margins so that wide local excision is recommended. A reported case of a 4-year-old boy with a tumour with low grade morphology in the mandible showed local recurrence which was treated with surgery and radiotherapy with no evidence of disease at 12 years follow-up.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar Although there are some common morphological features to this group of spindle cell tumours, such as bland spindle cells with fascicular or patternless pattern and prominent stromal and perivascular hyalinisation, it is worth noting that some tumours like ours may appear low grade on initial core biopsies but harbour higher grade sarcomatous areas on resection with marked cellularity and mitotic activity. Focal heterologous immature chondroid matrix similar to our case was noted in one of the cases with sarcomatous areas in the series of Suurmeijer et al.1Suurmeijer A.J.H. Dickson B.C. Swanson D. et al.A novel group of spindle cell tumors defined by S100 and CD34 co-expresion shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes.Genes Chromosomes Cancer. 2018; 57: 611-612Crossref PubMed Scopus (127) Google Scholar Although the typical immunophenotype includes diffuse S100 and CD34 reactivity, spindle cell tumours with similar histology and RAF1 fusions may show patchy or focal reactivity for one of these markers.12Penning A.J. Al-Ibraheemi A. Michal M. et al.Novel BRAF fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma.Mod Pathol. 2021; 34: 1530-1540Abstract Full Text Full Text PDF PubMed Scopus (26) Google Scholar In conclusion, we have presented the first case of an S100+ CD34+ SOX10– spindle cell tumour with KIAA1549-BRAF fusion occurring in a bone (metacarpal) in an adult. Although initial histology of the core biopsies showed a low grade spindle cell tumour with patternless pattern and typical stromal and perivascular hyalinisation, the resection showed a biphasic tumour with foci of high cellularity and focal chondroid matrix. The immunohistochemical pattern also varied with the grade. There is a morphological spectrum ranging from low grade lipofibromatosis-like neural tumour to high grade sarcoma and there can be tumours similar to our case with both low and high grade morphology and increased mitotic activity. It is important to recognise them and treat appropriately, with consideration of targeted therapy with specific kinase inhibitors in advanced local or metastatic disease. The authors state that there are no conflicts of interest to disclose.

We present a case of intramural gastric actinomycosis, diagnosed following subtotal gastrectomy performed for clinical idiopathic gastroparesis. Prior to the surgery the 76-year-old male had experienced 12 months of intermittent vomiting, melena, and weight loss, with a medical history significant for type 2 diabetes mellitus and cholecystectomy. Serial upper gastrointestinal endoscopy showed features of gastric outlet obstruction, including an oedematous and narrowed pyloric region, and associated residual food in the stomach. The mucosa consistently appeared normal however, and no mass lesions were identified. Bacterial species of the genus Actinomyces are commensal to the gastrointestinal tract, becoming pathogenic only rarely, and usually in the presence of mucosal injury. Less than 30 cases of gastric actinomycosis have been reported in the literature, and are characterised histologically by a suppurative granulomatous inflammation. To our knowledge this is the first case to report abscess cavity formation partly lined by a squamous epithelium. The clinical, radiological and endoscopic findings of intramural gastric actinomycosis are non-specific. Pre-operative diagnosis is exceptionally difficult, especially given the lead differential includes occult malignancy.

ANZ Journal of SurgeryVolume 91, Issue 10 p. 2207-2209 IMAGES FOR SURGEONS Diagnostic dilemma for an adrenal mass: perivascular epithelioid cell neoplasm versus adrenocortical carcinoma Amos N. Liew MBBS, GradDipSurgAnat, Amos N. Liew MBBS, GradDipSurgAnat orcid.org/0000-0002-4829-0495 Department of Surgery, Monash Health, Melbourne, Victoria, Australia Contribution: ​Investigation, Writing - original draft, Writing - review & editingSearch for more papers by this authorNiyaz Naqash MBBS, FRACS, Niyaz Naqash MBBS, FRACS Department of Surgery, Monash Health, Melbourne, Victoria, Australia Department of Surgery, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia Contribution: SupervisionSearch for more papers by this authorAsiri Arachchi MBBS, FRACS, Asiri Arachchi MBBS, FRACS Department of Surgery, Monash Health, Melbourne, Victoria, Australia Department of Surgery, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia Contribution: Supervision, Writing - review & editingSearch for more papers by this authorIan Simpson MBBS, FRCPA, Ian Simpson MBBS, FRCPA Department of Anatomical Pathology, Monash Health, Melbourne, Victoria, Australia Contribution: Data curationSearch for more papers by this authorJohn Slavin MBBS, FRCPA, John Slavin MBBS, FRCPA Department of Anatomical Pathology, St Vincent's Hospital, Melbourne, Victoria, Australia Contribution: Data curationSearch for more papers by this author Amos N. Liew MBBS, GradDipSurgAnat, Amos N. Liew MBBS, GradDipSurgAnat orcid.org/0000-0002-4829-0495 Department of Surgery, Monash Health, Melbourne, Victoria, Australia Contribution: ​Investigation, Writing - original draft, Writing - review & editingSearch for more papers by this authorNiyaz Naqash MBBS, FRACS, Niyaz Naqash MBBS, FRACS Department of Surgery, Monash Health, Melbourne, Victoria, Australia Department of Surgery, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia Contribution: SupervisionSearch for more papers by this authorAsiri Arachchi MBBS, FRACS, Asiri Arachchi MBBS, FRACS Department of Surgery, Monash Health, Melbourne, Victoria, Australia Department of Surgery, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia Contribution: Supervision, Writing - review & editingSearch for more papers by this authorIan Simpson MBBS, FRCPA, Ian Simpson MBBS, FRCPA Department of Anatomical Pathology, Monash Health, Melbourne, Victoria, Australia Contribution: Data curationSearch for more papers by this authorJohn Slavin MBBS, FRCPA, John Slavin MBBS, FRCPA Department of Anatomical Pathology, St Vincent's Hospital, Melbourne, Victoria, Australia Contribution: Data curationSearch for more papers by this author First published: 06 February 2021 https://doi.org/10.1111/ans.16648Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume91, Issue10October 2021Pages 2207-2209 RelatedInformation

Background: Well-Differentiated Liposarcoma (WDLPS) is the most common subtype of malignant lipomatous tumours. This low-grade neoplasm carries a risk of local recurrence and dedifferentiation into higher-grade subtypes, and therefore requires aggressive treatment with wide local excision and neoadjuvant radiotherapy. WDLPS, however, shares overlapping features with its benign counterpart, lipoma. Diagnostically challenging cases can be resolved with molecular testing for Mouse Double Minute 2 (MDM2) amplification, which is found in almost all WDLPS. This study aimed to determine the predictors of MDM2 amplification to better inform the decision for tumours to undergo molecular testing. Methods: A retrospective study was performed on 173 lipomatous tumours. Demographic, clinical, radiology and pathology data were obtained from institutional records. Multivariate analysis was performed to determine the features of lipomatous tumours that correlate with MDM2 amplification. The relative strength of the associations between predictor variables and MDM2 amplification were measured via derivation of coefficients of determination (Pseudo-R2). Results: The significant predictors of MDM2 amplification were age of diagnosis ≥60 years (odds ratio (OR)=25.71; 95% confidence interval (CI)=4.47- 148.02); size ≥15cm (OR=11.68; 95% CI=2.70-50.59); presence of thick septa (OR=78.13; 95% CI=3.23-1890.71) on MRI; variable cell morphology (OR=22.19; 95% CI=4.03-122.20); and cytological atypia (OR=15.03; 95% CI=3.07-73.68). Conclusion: Molecular testing for MDM2 amplification should be considered for tumours 15cm or greater, in patients aged 60 years or older, with thick septa on MRI, even in the absence of concerning histological features.

Giant cell tumour of bone (GCTOB) is a relatively uncommon, benign, but locally aggressive neoplasm. Denosumab is a fully human monoclonal antibody with inhibitory effects on receptor activator of nuclear factor kappa‐B ligand that has shown early promise as a possible treatment adjuvant for GCTB. However, much is still unknown about its current indications, long‐term effects, the potential risk for rapid relapse and its involvement in sarcomatous transformation.

PURPOSE:Distinguishing between enchondromas and low-grade (grade 1) chondrosarcomas can be challenging. The aim of this study was to investigate the role of Thallium-201 scintigraphy and Technetium-99 m pentavalent dimercaptosuccinic acid (Tc-99 m DMSA (V)) in the diagnosis and grading of chondrosarcomas.METHODS:232 consecutive patients with pathologically proven cartilaginous tumours between the years 2000 and 2018 were evaluated. We included 197 patients (101 males and 96 females; median age 50 years; range 15-86 years) who underwent Thallium-201(n = 193) and/or Tc-99 m DMSA (V) scanning (n = 67). Increased uptake was defined as uptake greater than background. The reference standard was the histopathological assessment based on a grading system (grade 1-3). Data was analysed using multivariate modelling.RESULTS:There were 46 patients with enchondromas and 151 with chondrosarcomas. Of those, 64 (enchondroma n = 21, chondrosarcoma n = 43) underwent both Thallium-201 and Tc-99 m DMSA (V). Thallium-201 uptake had 7.92 times greater odds of grade 1 chondrosarcomas than enchondromas. Thallium-201 uptake was significantly associated with the odds of a higher grade chondrosarcoma (grade 2-3). DMSA (V) positivity was associated with 4.75 times the odds of a chondrosarcoma diagnosis over enchondroma (p = 0.024). DMSA (V) uptake revealed no association with chondrosarcoma grading.CONCLUSION:Low-grade chondrosarcomas continue to pose a diagnostic dilemma. Thallium-201 scans may identify malignancy in benign appearing tumours as well as differentiate between low-grade and high-grade chondrosarcomas in said malignancies. DMSA (V) may be useful in distinguishing between benign and malignant entities as a whole.

BACKGROUND AND OBJECTIVES:Leiomyosarcoma of skin (LMS) can be sub-classified on pathology appearances as Dermal or Subcutaneous. The aim of this study was to provide treatment recommendations for these uncommon tumours.METHODS:A retrospective review of all patients with dermal and subcutaneous leiomyosarcoma managed at the Peter MacCallum Cancer Centre, Australia from January 2003 to December 2018 was performed. Eighty-three patients were identified (64 dermal leiomyosarcoma, 19 subcutaneous leiomyosarcoma).RESULTS:Subcutaneous leiomyosarcoma were larger (median size 14 mm dermal, 49 mm subcutaneous, P = 0.01). No patient with a dermal leiomyosarcoma developed metastatic disease compared to 4 of the 19 subcutaneous leiomyosarcoma (5-year overall survivals, 98% and 88%, respectively, P = 0.03). The most common site of metastasis was to the lung. No difference in risk of local recurrence was apparent (5-year recurrence-free survivals were 85% and 78%, respectively, P = 0.17). Adjuvant radiotherapy was used in 16 (25%) dermal leiomyosarcoma patients and 13 (68%) subcutaneous leiomyosarcoma patients (P < 0.001). Local recurrence was uncommon in both tumour subtypes when patients received definitive surgical excision (minimum histological margins of 10 mm as per institutional protocol) regardless of whether radiotherapy was used. The 5-year local recurrence-free survival for dermal leiomyosarcoma treated with radiotherapy was 93% versus 83% without radiotherapy (P = 0.7) and for subcutaneous leiomyosarcoma was 69% and 100%, respectively (P = 0.9).CONCLUSIONS:Dermal leiomyosarcoma have an excellent prognosis, particularly after definitive surgical excision with margins of at least 10 mm. Subcutaneous leiomyosarcoma has poorer outcomes and should be managed by wider excision and considered for adjuvant radiotherapy.