Darren J. Smit

Abstract 4021: Precision diagnostics for early melanoma detection using spatial biology and AI guided image analysis

Yung-Ching Kao, Samuel Tan, Xiao Tan, Harald Oey et autres

Abstract Accurate diagnosis of melanoma is particularly challenging, as malignant lesions often resemble benign naevi. The gold standard for diagnosing melanocytic lesions relies on the examination of morphological cell features using hematoxylin and eosin (H&E) stained tissue samples. This process however is …

au, us (code pays fourni par la source)

Abstract 1103: The genomic landscape of melanoma-prone skin

Katie Lee, Yung-Ching Kao, Darren J. Smit, Marietta K. Saldias Montivero et autres

Abstract Normal skin carries a high burden of somatic mutations, yet this does not explain where a melanoma will form. From 3D total body photography studies of high-risk individuals, we have observed a trend toward melanoma excisions clustered in regions on the …

au, us (code pays fourni par la source)

Differential expression of HRK regulates proliferation of acquired melanocytic naevi

Joachim Torrano, Harald Oey, Darren J. Smit, Yung-Ching Kao et autres

BACKGROUND: Naevi are considered benign analogues for melanoma, and they share many clinical and molecular features including oncogenic activation, and the transient adoption of senescence-like phenotypes. We previously determined dynamic mechanisms for maintenance of benign naevi (showing conventional features under histopathology) via …

au, gb (code pays fourni par la source)

226 Differential expression of HRK regulates proliferation of acquired melanocytic naevi

J Torrano, Harald Oey, Darren J. Smit, Yu-Ting Kao et autres

au (code pays fourni par la source)

Subclinical fields of BRAF V600E-mutant melanocytes populate human skin and are enriched around melanoma and naevi

Katie J. Lee, Y. Kao, Amanda Jiang, Anastasia Prokofyeva et autres

BACKGROUND: The origins of cutaneous melanoma are often traced to visible precursor lesions (e.g. melanocytic naevi), but approximately two-thirds of melanomas arise from clinically healthy skin with no detectable precursor lesion. The BRAF V600E mutation drives melanoma and naevus formation, but eruptive …

au, us, gb (code pays fourni par la source)

Prevalence of high‐risk melanoma variants in early‐onset and/or multiple primary melanoma in an Australian cohort

Ellie J. Maas, Courtney K. Wallingford, Emily De Bortoli, Clare Primiero et autres

The data that support the findings of this study are available from the corresponding author upon reasonable request.

au (code pays fourni par la source)

The genomic landscape of matching primary and metastatic melanoma tumours uncovers relevant pathways for the metastatic process

Darren J. Smit, Yeh‐Chih Kao, Harald Oey, Thomas M. Harris et autres

Background: Metastatic melanoma treatment decisions are often made using the available tumour biopsy. The primary tumour is the most common specimen that is molecularly assessed to determine the mutation status, which guides patient therapy, but this is limited due to interpatient and …

au, at (code pays fourni par la source)

Impact of Antithrombotic Therapy on Survival Outcomes in Advanced Melanoma Patients Receiving Targeted Therapy: Insights from the Prospective Multicenter ADOReg Registry

Nick Zimmermann, Julian Kött, Traci Zell, Atefeh Abedini et autres

Background: The standard therapy for advanced cutaneous melanoma involves immune checkpoint inhibition (ICI). Despite its efficacy, therapy response can be slow, leading to potential worsening of disease before stabilization occurs. For BRAF mutated melanoma, targeted therapy (TT, BRAF+MEK inhibitors) offers an alternative …

de, us (code pays fourni par la source)

Mitochondrial Deletion4977 Abundance in Melanoma-Adjacent Skin

Katie J. Lee, Y. Kao, Darren J. Smit, Brigid Betz‐Stablein et autres

au (code pays fourni par la source)

397 The genomic landscape of melanoma-prone skin

Katie J. Lee, Y. Kao, Darren J. Smit, Marietta Montivero et autres

au, us (code pays fourni par la source)

Uncovering the molecular mechanisms of amelanotic/hypopigmented primary cutaneous melanoma

Richard A. Sturm, Darren J. Smit, David L. Duffy, Catriona McLean et autres

BACKGROUND: Approximately 2-20% of cutaneous melanomas (CMs) are diagnosed as amelanotic/hypopigmented melanoma (AHM) and represent a challenge for early diagnosis. OBJECTIVES: To investigate loss-of-function mutations in key pigmentation genes in matched germline and AHM, as well as pigmented melanoma (PM), tumour DNA …

au, gb (code pays fourni par la source)

POT1 and multiple primary melanomas: the dermatological phenotype

Ellie J. Maas, Emily DeBortoli, Vaishnavi Nathan, N Freeman et autres

POT1 is the second most frequently reported gene (after CDKN2A) in familial melanoma. Pathogenic variants are associated with earlier onset and/or multiple primary melanomas (MPMs). To date, POT1 phenotypical reports have been largely restricted to associated malignancies, and description of the dermatological …

au (code pays fourni par la source)