Diagnostic and prognostic classification of atypical spitzoid tumours based on histology and genomic aberrations: A prospective cohort study with long-term follow-up

Eur J Cancer. 2022 Mar:163:200-210. doi: 10.1016/j.ejca.2021.12.016. Epub 2022 Jan 31.

Abstract

Background: Histological classification of atypical spitzoid tumours (ASTs) is unreliable, and categorisation of these lesions into benign and malignant is poorly reproducible. Here, we classified ASTs based on histology and chromosomal aberrations and explored the prognostic significance of genomic aberrations in a prospective cohort with a long-term follow-up.

Patients and methods: Histologically equivocal ASTs from 76 patients were analysed by array comparative genomic hybridisation (aCGH). Tumours were histologically assessed by a panel of dermatopathologist before and after aCGH and classified as benign, ambiguous or malignant. Chromosomal aberrations were correlated with an outcome.

Results: Chromosomal aberrations were detected in 45 (59%) of 76 ASTs (median age: 16 years, range: 0-74; median follow-up: 90 months, range: 13-153). The initial histological diagnosis was changed upon presentation of aCGH results in 36 of 76 cases (47%). The final diagnostic interpretation classified 61% of the lesions as benign, 18% as ambiguous and 21% as malignant. Positive sentinel lymph node biopsies (6+/29) occurred at similar rates in all diagnostic groups (P = 0.83) and were not associated with an unfavourable outcome. Two patients had local recurrences, but none of the patients developed metastasis beyond the sentinel lymph node.

Conclusions: All ASTs had an excellent prognosis, even in cases with worrisome morphology and chromosomal aberrations. With no distant metastasis or death in long-term follow-up of 76 patients, no correlation between chromosomal aberrations and prognosis was possible. However, it seems likely that in larger cohorts, metastases would arise in cases with complex aberrations and these patients should undergo clinical follow-up.

Keywords: Array comparative genomic hybridisation; Atypical spitz tumour; Histology; Melanoma; Prognosis; Sentinel lymph node biopsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Cohort Studies
  • Follow-Up Studies
  • Genomics
  • Humans
  • Infant
  • Lymphatic Metastasis / diagnosis*
  • Lymphatic Metastasis / genetics
  • Lymphatic Metastasis / pathology
  • Middle Aged
  • Neoplasm Recurrence, Local / diagnosis*
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Nevus, Epithelioid and Spindle Cell / diagnosis*
  • Nevus, Epithelioid and Spindle Cell / genetics
  • Nevus, Epithelioid and Spindle Cell / pathology
  • Prognosis
  • Prospective Studies
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Young Adult