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
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