Expanding the Spectrum of Microscopic and Cytogenetic Findings Associated With Spitz Tumors With 11p Gains
Autor: | Yuqiang Fang, Klaus J. Busam, Nasrin Eslamdoost, Yanming Zhang, Philip E. LeBoit, Cecilia Lezcano, Iwei Yeh, Timothy H. McCalmont, Andrea P Moy |
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Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Male Pathology Skin Neoplasms 0302 clinical medicine Polymorphism (computer science) Pair 11 Child Cancer medicine.diagnostic_test Middle Aged Cytogenetic Aberrations atypical Spitz tumor 030220 oncology & carcinogenesis Child Preschool HRAS Female Anatomy medicine.symptom spitzoid Human Biotechnology Adult medicine.medical_specialty 11p Adolescent Clinical Sciences Locus (genetics) Epithelioid and Spindle Cell Biology Chromosomes Article Pathology and Forensic Medicine Proto-Oncogene Proteins p21(ras) 03 medical and health sciences Young Adult Nevus Epithelioid and Spindle Cell medicine Genetics melanoma Humans spitz nevus Preschool Nevus Aged Chromosome Aberrations Chromosomes Human Pair 11 Human Genome Chromosome Desmoplasia 030104 developmental biology Surgery Fluorescence in situ hybridization Comparative genomic hybridization |
Zdroj: | Am J Surg Pathol The American journal of surgical pathology, vol 45, iss 2 |
ISSN: | 1532-0979 |
Popis: | A subset of Spitz tumors is associated with a copy number increase of chromosome 11p and activating mutations of HRAS. These aberrations have been reported to occur in association with desmoplastic Spitz nevi. Little is known to what extent 11p gains can also be found in nondesmoplastic tumors. To learn more about the spectrum of microscopic and cytogenetic changes that can be seen in Spitz lesions in association with 11p gains, we reviewed the clinical and pathologic features of 40 cases. Patient ages ranged from 3 to 75 years. The most common anatomic site was the head and neck region, followed by the upper extremities. Prominent desmoplasia was present in 10 cases. Seven tumors lacked significant stromal fibrosis. Twenty tumors were mitotically active. Novel microscopic features encountered in a few cases include a tumor with a polypoid silhouette and papillomatous surface and rare atypical tumors with a deep bulbous growth pattern. Among 36 cases analyzed by single-nucleotide polymorphism array or comparative genomic hybridization, 28 tumors had gains of the entire or near-entire p-arm of chromosome 11 with no other coexisting unbalanced genomic aberration. Eight cases had additional changes; 6 of these with 1 additional aberration per case, and 2 cases had several chromosomal aberrations. We also examined a subset of tumors by fluorescence in situ hybridization for the HRAS gene locus (11p15.5). All tumors were fluorescence in situ hybridization-positive. In conclusion, we expand the spectrum of pathologic findings associated with Spitz tumors with 11p gains. This cytogenetic aberration is not restricted to desmoplastic Spitz nevi. It can also be seen in nondesmoplastic and papillomatous lesions and atypical melanocytic tumors with a deep bulbous growth. We also document that in some Spitz tumors additional cytogenetic aberrations may be found, the significance of which remains to be determined. |
Databáze: | OpenAIRE |
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