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Updated: Dec 9, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
NPM1 and FLT3-TKD mutations are enriched in patients with leukemia cutis
Theodora K Karagounis1, Veronica Rotemberg, Larisa J Geskin
1Department of Dermatology, New York University Langone Health, New York, NY. theodora.karagounis@nyulangone.org.
Abstract:
Leukemia cutis (LC) is a dermatologic manifestation of leukemia. Its clinical implications for the patient and the biological mechanism behind the manifestation of LC are unknown. The oncology community is increasingly utilizing mutations to classify a number of malignancies to prognosticate outcomes and to choose targeted therapies. A single-center, retrospective analysis of dermatopathology cases with a diagnosis of leukemia cutis was performed. Patients with genetic testing using the Columbia Combined Cancer Panel (a targeted sequencing protocol of 467 genes) or Genoptix (targeted sequencing protocol of 44 genes) were identified. The frequency of the presence of genetic mutations in LC patients was compared to AML patients from the COSMIC (Catalogue of Somatic Mutations in Cancer) database. Twenty nine cases were confirmed to have leukemia cutis, 22 of which had acute myeloid leukemia (AML). Genetic testing was available in 11 patients. Twelve different mutations were observed with particular enrichment for NPM1 and FLT3-TKD. Our original hypothesis was that patients with LC would display a distinct mutation profile. Ultimately, the distribution of mutations observed in our cohort of LC patients largely reflects the mutational profile seen in AML patients in general.
Insights
Leukemia cutis (LC) mutation profiles largely mirror those of acute myeloid leukemia (AML). This study found no distinct genetic markers for LC, suggesting shared biological pathways in these leukemia manifestations.
Area of Science:
- Oncology
- Dermatology
- Genetics
Background:
- Leukemia cutis (LC) is a skin manifestation of leukemia with unknown clinical significance and biological mechanisms.
- The role of genetic mutations in LC pathogenesis is poorly understood.
- Somatic mutations are increasingly used for cancer prognostication and targeted therapy selection.
Purpose of the Study:
- To investigate the genetic mutation profile of leukemia cutis.
- To determine if LC exhibits a distinct mutational landscape compared to general acute myeloid leukemia (AML).
Main Methods:
- Retrospective analysis of 29 dermatopathology cases diagnosed with leukemia cutis.
- Genetic testing data from 11 LC patients using targeted sequencing panels (Columbia Combined Cancer Panel, Genoptix).
- Comparison of mutation frequencies in LC patients with AML data from the Catalogue of Somatic Mutations in Cancer (COSMIC) database.
Main Results:
- Twenty-two of the 29 LC cases were associated with acute myeloid leukemia (AML).
- Twelve distinct mutations were identified in the 11 patients with available genetic testing.
- Mutations in NPM1 and FLT3-TKD were notably enriched.
- The observed mutation distribution in LC patients closely resembled the general mutational profile of AML.
Conclusions:
- The genetic landscape of leukemia cutis, particularly in AML, does not appear to be distinct from that of AML itself.
- The findings suggest that LC shares similar underlying genetic alterations with its primary leukemia, rather than possessing unique mutations.
- Further research is needed to elucidate the specific biological mechanisms driving LC manifestation despite shared mutations.
