International Multicenter Retrospective Study From the Ultra-rare Sarcoma Working Group on Low-grade Fibromyxoid Sarcoma, Sclerosing Epithelioid Fibrosarcoma, and Hybrid Forms: Outcome of Primary Localized Disease.

The aim of the study was to report the outcome of primary localized low-grade fibromyxoid sarcoma (LGFMS), sclerosing epithelioid fibrosarcoma (SEF), and hybrid LGFMS/SEF (H-LGFMS/SEF). Patients with primary localized LGFMS, SEF, or H-LGFMS/SEF, surgically treated with curative intent from January 2000 to September 2022, were enrolled from 14 countries and 27 institutions. Pathologic inclusion criteria were predefined by expert pathologists.

SPARC - A multi-disciplinary team program for retroperitoneal sarcoma: the Royal Prince Alfred Hospital and Chris O'Brien Lifehouse Collaboration.

Background: The Royal Prince Alfred Hospital (RPAH) and Chris O'Brien Lifehouse (COBLH) established a formal Sarcoma of the Pelvic and Abdominal Retroperitoneum Collaboration (SPARC) in November 2020. An established multidisciplinary team (MDT) with the aims to centralise patient referrals and treatment, establish database and research, coordinate surgical resections is critical in improving patient outcomes and quality of life.

Methods: A prospective database was established in October 2021.

Detailed DNA methylation characterisation of phyllodes tumours identifies a signature of malignancy and distinguishes phyllodes from metaplastic breast carcinoma.

Phyllodes tumours (PTs) are rare fibroepithelial lesions of the breast that are classified as benign, borderline, or malignant. As little is known about the molecular underpinnings of PTs, current diagnosis relies on histological examination. However, accurate classification is often difficult, particularly for distinguishing borderline from malignant PTs.

Hibernoma: a case report of a rare cardiac tumour.

Background: A cardiac hibernoma is a rare phenomenon, with just a handful of reports in the literature. They are difficult to characterize with conventional imaging including echocardiography, computed tomography (CT), cardiac magnetic resonance (CMR), or positron emission tomography (PET). Their definitive diagnosis relies primarily on histopathology via either endovascular or surgical biopsy.

Looking beyond workforce parity: addressing gender inequity in pathology.

While women pathologists have made up over one-third of pathologists in the Australian workforce for over 15 years and at least 50% since 2019, they are under-represented in senior leadership roles, scientific publications, grant recipients, editorial boards, key presentations, and professional awards. This is not unique to pathology and is seen in the broader medical and academic community. Barriers to gender equity and equality in pathology, medicine and academia include gender stereotypes, gender-based discrimination, structural and organisational barriers as well as broader social and cultural barriers.

Inter-rater concordance of basal cell carcinoma subtypes: influences on reporting format and opportunities for further classification modifications.

Diagnosis of basal cell carcinoma (BCC) higher risk subtypes influences management strategies because of their propensity to recur locally. Subtyping is prone to inter-observer variability, and subtyping definitions are inconsistently applied. This study sought to compare the interobserver reproducibility of individual BCC subtypes using the 4th edition World Health Organization (WHO) Classification of Skin Tumours (CoST) definitions, with classification into lower and higher risk histological subtype groups.

Mesenchymal chondrosarcoma: An Australian multi-centre cohort study.

Background: Mesenchymal chondrosarcoma (MCS) is an ultra-rare sarcoma that follows a more aggressive course than conventional chondrosarcoma. This study evaluates prognostic factors, treatments (surgery, chemotherapy, and radiation), and outcomes in an Australian setting.

Methods: We collected demographics, clinicopathological variables, treatment characteristics, and survival status from patients with MCS registered on the national ACCORD sarcoma database.

NKX3.1 immunohistochemistry is highly specific for the diagnosis of mesenchymal chondrosarcomas: experience in the Australian population.

Mesenchymal chondrosarcoma (MC) is a rare sarcoma that typically arises in adolescents and young adults and characteristically harbours a HEY1-NCOA2 gene fusion. A recent study has shown that NKX3.1 immunohistochemistry (IHC) is highly specific and sensitive in MCs.

PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma.

Background: Sarcomas represent 10%-15% of cancers in adolescent and young adult (AYA) patients, and survival for those with metastatic disease or relapse is poor. Immunotherapy with checkpoint inhibition has improved outcomes in multiple tumor types, but data in advanced sarcomas, particularly within the AYA population, are limited.

Aim: We aim to evaluate response and toxicity for AYA patients with sarcoma treated with pembrolizumab.

Primary dermal melanoma: clinical behaviour, prognosis and treatment.

Purpose: Primary dermal melanoma (PDM) is a subtype of cutaneous melanoma, confined to the dermis, which poses a challenging clinical dilemma. It may represent a true primary melanoma or a dermal cutaneous metastasis. This study aimed to delineate the histopathological characteristics and prognosis of PDM in a large patient cohort to guide appropriate treatment strategies.

The prognostic significance of microsatellites in cutaneous melanoma.

Microscopic satellite metastases are an adverse prognostic feature in primary cutaneous melanoma patients. The prognostic significance of microsatellites, including their number, size and distance from the primary melanoma, using the 8th edition American Joint Committee on Cancer definition, has not previously been evaluated. This study sought to determine the prognostic significance of microsatellites in histopathologically reviewed cases.

FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center.

Aim: Fluorescence in situ hybridization (FISH) is an important ancillary tool for the classification of bone/soft tissue (BST) tumors. The aim of this study was to evaluate the contribution of FISH to the final classification of common BST entities in the molecular pathology department of the Royal Prince Alfred Hospital (RPAH), which is one of the most important referral centers for the management of sarcomas in Australia.

Methods: All routine diagnostic FISH tests performed on BST formalin-fixed paraffin embedded (FFPE) tissue specimens at the RPAH in a 5-year period (February, 2010-November, 2015) were reviewed.

Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases.

Aims: Recurrent Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangements characterize a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in-situ hybridization (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not associated classically with EWSR1 translocations. This study aimed to review our institutional experience of this phenomenon and also to highlight the occurrence of unusual EWSR1 FISH signals (i.

Pathology review significantly affects diagnosis and treatment of melanoma patients: an analysis of 5011 patients treated at a melanoma treatment center.

Background: Pathologists sometimes disagree on the diagnosis of melanoma or its histopathologic staging, which may have implications for treatment and follow-up. For this reason, melanoma patients referred to Melanoma Institute Australia (MIA) for further treatment routinely have their pathology slides reviewed by MIA pathologists. This study sought to determine whether diagnosis, staging, and treatment of melanoma patients changed significantly after central pathology review.

Reproducibility of AJCC staging parameters in primary cutaneous melanoma: an analysis of 4,924 cases.

Background: Pathology reports are of critical importance for conveying information to clinicians who must make important management decisions for their patients. This study sought to assess and compare the precision, reproducibility, and completeness of external pathology reports and pathology reports generated by central review of each case in a large cohort of primary cutaneous melanoma patients.

Methods: Details of matched external pathology reports and corresponding review reports for 4,924 primary cutaneous invasive melanomas diagnosed and treated at Melanoma Institute Australia (MIA) between 2001 and 2011 were analyzed.

Recent insights into the molecular pathogenesis of mammary phyllodes tumours.

Phyllodes tumours (PTs) of the breast are true biphasic neoplasms within which interactions between the epithelium and stroma are critical for tumour development and progression. Despite numerous studies reporting the results of ancillary marker investigations in PTs, the current histological grading systems remain unreliable at predicting clinical outcome even when supplemented by these markers. As a consequence, there has been much interest in the prospect of using molecular/genetic techniques to develop a more robust "grading" system.

Molecular alterations in metaplastic breast carcinoma.

Metaplastic carcinoma of the breast is a rare and heterogeneous subtype of breast carcinoma with a generally poor outcome, and few therapeutic options once disease recurs or progresses. Metaplastic carcinomas of the breast are usually of a larger size at diagnosis, with less frequent nodal metastasis compared with invasive ductal carcinoma no special type, and lack hormone and HER2 receptor expression. Recent research has revealed some potentially actionable genetic changes in a subset of these rare tumours.

Digital papillary adenocarcinoma: a tumour that should be considered in the differential diagnosis of neoplasms involving the digits.

Background: Digital papillary adenocarcinoma (DPA) is a rare malignant adnexal tumour that occurs almost exclusively in a digital location. Only two case series have been reported previously.

Aims: To document the clinical and histopathological findings in a series of patients with DPA.

E-cadherin expression in the epithelial components of mammary phyllodes tumors.

Phyllodes tumors are rare but clinically important fibroepithelial tumors of the breast. Both epithelial and stromal components actively interact with each other to participate in phyllodes tumor development. Accumulated evidence suggests that the Wnt signaling pathway is important in this stromal-epithelial interaction.

Involvement of α- and β-catenins and E-cadherin in the development of mammary phyllodes tumours.

Aims: Phyllodes tumours (PT) are rare but clinically important fibroepithelial tumours of the breast. β-Catenin, a key component in Wnt signalling, has been shown to be important in the development of PT. It also functions as a component of the cadherin complex, which may therefore be implicated in PT pathogenesis.

DNA methylation profiling of phyllodes and fibroadenoma tumours of the breast.

Phyllodes tumours and cellular fibroadenomas are both fibroepithelial tumours of the breast. Phyllodes tumours, unlike fibroadenomas, have the ability to recur and metastasise. Although these lesions can be distinguished by their stromal cellularity, mitotic index, presence or absence of stromal overgrowth and cellular atypia, there is overlap and not infrequently a definitive diagnosis cannot be made, particularly on biopsy.