Tumor Syndromes

• Doenças genéticas associadas a CBC
Basal Cell Nevus/Hamartoma Syndrome (Gorlin-Goltz)
Brooke-Spiegler Syndrome
OculoCutaneous Albinism (OCA)
Xeroderma Pigmentoso
Muir-Torre Syndrome
Nevo/Hamartoma Sebáceo de Jadassohn
Bazex-Dupré-Christol Syndrome (Follicular atrophoderma)
Schopf-Schulz-Passarge
Rombo Syndrome

 

• Genetic syndromes associated with SCC
!Epidermodysplasia verruciformis, tree man syndrome or Lewandowsky-Lutz dysplasia
Inherited Epidermolysis Bullosa
OculoCutaneous Albinism (OCA)
Xeroderma Pigmentoso
• Lynch syndrome > Muir-Torre (keratoacanthomas)
Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC/Lynch syndrome)
Muir-Torre Syndrome
Bazex-Dupré-Christol Syndrome (Follicular atrophoderma)
Rothmund-Thomson Syndrome
Fanconi Anemia
• Dyskeratosis, linear type
• Keratitis, ichthyosis, deafness (KID) syndrome
• Werner’s syndrome (adult progeria)
• Chronic mucocutaneous candidiasis

 

• Genetic syndromes associated with melanoma
• Mutação CDKN2A
• Localizado cromossoma 9p21
• Codifica p16 e p14 (p16 também é um marcador do HPV)
• Também predispõe para cancro pancreático
• Mutação CDK4 (12q13)
• Codes for a dependent protein kinase involved in cell cycle control
• Mutação MC1R
• Encodes de MSH receptor
• Associated with red hair phenotype
• Mutação MITF (Microphthalmia-associated transcription factor)
• Regulates melanocyte differentiation
• Also renal carcinoma
• Mutação BAP1
BAP1 syndrome
• Tumor supressor gene
• Cutaneous or uveal melanoma, mesothelioma and renal cell carcinoma

 

• Genetic syndromes associated with Adnexal Tumors
Brooke-Spiegler Syndrome
• Cowden (which is part of PTEN, mTOR pathway mutation)
Cowden syndrome
PTEN Hamartoma Tumor Syndrome (PHTS)
Birt-Hogg-Dubé Syndrome
• Muir-Torre Syndrome (which is part of Lynch)
Muir-Torre Syndrome
Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC/Lynch syndrome)
• Gardner (which is part of APC)
Gardner Syndrome
Peutz-Jegher syndrome

 

Outros

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Multiple Endocrine Neoplasia | MEN

• BAP1: multiple MBAITS (appear at first decades of life)
• Uveal melanoma: aggressive with high metastatic potential

• TERT: multiple atypical nevi (possible)
• Nodular or superficial spreading types

• POT1: early age of onset
• Chronic lymphocytic leukemia, angiosarcomas, gliomas

• MITF: fair skin type (debated) multiple atypical nevi
• Amelanotic melanoma may be more common in this population

• Hereditary retinoblastoma: dysplastic nevi, melanoma, sarcoma, intracranial embryonic tumors

• PTEN: risk and age of onset unknown