BAP1 inactivated naevus (‘BAP-oma’): a newly recognised variant
| Autor: | William Merchant, Emily L. Clarke |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Pathology
medicine.medical_specialty BAP1 Histology medicine.diagnostic_test business.industry Genetic counseling Context (language use) Germline Pathology and Forensic Medicine Lesion 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis medicine Nuclear atypia medicine.symptom business Immunostaining Genetic testing |
| Zdroj: | Diagnostic Histopathology. 24:338-340 |
| ISSN: | 1756-2317 |
| DOI: | 10.1016/j.mpdhp.2018.06.003 |
| Popis: | We present a case of a 22-year-old male who presented with a longstanding pink lesion on his left calf. This lesion was a lobulated and intradermal, and comprised of large epithelioid spitzoid cells with marked nuclear atypia and occasional mitoses. This lesion was initially diagnosed as a Melanocytic Tumour of Uncertain Malignant Potential (MELTUMP), but due to a recent discovery of a subtype of atypical spitzoid tumour, this lesion has been re-categorised as a BAP1 (BRCA1 – associated protein 1) inactivated melanocytic tumour, or ‘BAP-oma’. These lesions should be considered in the context of a dermal, lobulated atypical spitzoid tumour, particularly where there is a strong family history. In these cases, a BAP1 immunostain should be requested and this diagnosis can be confirmed through the loss of nuclear staining. Clinicians should be informed of this mutation status, as they can consider genetic counselling and genetic testing for a germline BAP1 mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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