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Over the past decade, advancements in molecular biology have contributed to changes in the diagnostic classification of Spitz neoplasms, including Spitz nevi, atypical Spitz tumors, and Spitz melanomas. The recent World Health Organization classification of skin tumors identifies fusion kinases, including NTRK1, NTRK2, and NTRK3, as critical drivers of these lesions. New fusion genes have continued to expand the spectrum of known molecular alterations, particularly within the category of Spitz NTRK-rearranged lesions. We present 2 new cases of NTRK-rearranged Spitz lesions: an atypical Spitz tumor with common LMNA::NTRK1 fusion and an atypical Spitz tumor with a rare PRDX1::NTRK1 fusion. Clinical, histopathological, immunohistochemical, and molecular analyses were performed to diagnose these patients. This report adds to the growing body of knowledge on NTRK-rearranged Spitz lesions and underscores the importance of integrating molecular findings with morphological and immunohistochemical data for the accurate classification and understanding of these neoplasms.
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http://dx.doi.org/10.1097/DAD.0000000000002865 | DOI Listing |
Front Med (Lausanne)
August 2025
Leprosy Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Introduction: Neuropathy is an important feature of leprosy, a chronic infection caused by that mainly affects the skin and peripheral nerves. There is a rare and atypical form called the pure neural form, which is manifested only by changes in the nerves, without lesions on the skin, which makes early diagnosis difficult. If left untreated, neuropathy can lead to deformities and disabilities.
View Article and Find Full Text PDFDermatol Pract Concept
July 2025
Section of Dermatology, DISSAL, University of Genoa, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Introduction: Spitzoid lesions are a group of melanocytic tumors, including Spitz nevi, atypical Spitz tumors, and Spitz melanomas, that pose a considerable diagnostic challenge.
Objectives: Our aim was to describe the clinical, dermoscopic, and histopathological characteristics of spitzoid melanocytic lesions in adult patients in our center and to find possible associations between certain clinical-dermoscopic characteristics and the diagnosis of melanoma.
Methods: We conducted a single-center retrospective study and included all cases of histopathologically-confirmed spitzoid melanocytic lesions diagnosed in adult patients between January 2012 and December 2022.
J Plast Reconstr Surg
July 2025
Department of Plastic and Reconstructive Surgery, Kyorin University School of Medicine, Tokyo, Japan.
Atypical Spitz tumors are one type of the Spitzoid melanocytic lesion, characterized by one or more atypical features, and often demonstrate indeterminate biological potential. Atypical Spitz tumors pose challenges in both clinical and pathological diagnoses. Herein, we report a case of a 1-year-old Japanese girl who presented with a rapidly enlarging lesion mimicking a pyogenic granuloma.
View Article and Find Full Text PDFJ Cutan Pathol
October 2025
Department of Pathology, Rambam Health Care Campus, Haifa, Israel.
Congenital Spitz nevi have been rarely reported, and the diagnoses were usually based on the histopathological and immunohistochemical findings. We describe a case of a congenital Spitz tumor in which the molecular studies demonstrated a ZKSCAN1::MET fusion. No other somatic mutations and/or copy number variations outside of the MET gene were identified.
View Article and Find Full Text PDFAm J Dermatopathol
July 2025
Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", Bari, Italy.
Spitz tumors are a heterogeneous group of melanocytic neoplasms ranging from benign Spitz nevi to malignant Spitz melanomas, with atypical Spitz tumors/Spitz melanocytoma occupying an intermediate position within this biological spectrum. A hallmark of all these lesions is the presence of specific genetic alterations, distinct from those seen in common nevi, that include, among others, receptor tyrosine kinase fusions. NTRK3 gene rearrangements are rare, with only a few fusion partners described in the existing literature (ETV6, MYO5A, MYH9, and SQSTM1).
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