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Renal Neoplasm - Coggle Diagram

- - - - Loss of function mutations in TSC1 or TSC2
    - - Cerebral cortex lesions
        
        Epilepsy
        
        Learning difficulty
        
        Behavioural disorders
      - Skin abnormalities
        
        Hypomelanotic macules
        
        Shagreen patch
        
        Angiofibroma
      - Bening tumours at other sites
        
        Cardiac rhabdomyomas
        
        Retinal hamartomas
  - - - Autosomal dominant
      - Mutation of BDH gene Chr17p
        Folliculin - tumour suppressor gene
    - - Bening skin lesions
        
        Fibrofolliculomas
        
        Trichadiscomas
        
        Acrochordons
      - Pulmonary cyst / blebs
      - Renal tumours
        
        Oncocytoma
      - Stellate scar
    - - Skin papules
      - Spontaneous pneumothorax
      - Renal tumours
  - - - Germline mutation in VHL gene Chr3
        VHL - tumour suppressor
    - - Renal cyts
      - Bilateral renal cell carcinomas
      - Phaechomocytoma
      - Haemangioblastoma
  - - - Autosomal dominant
      - Mutations of fumarate hydratase (FH) gene
    - - Uterine leoimyomas
      - Aggressive papillary carcinoma with propensity to metastasise
  - - - Autosomal dominant
      - Cytogenetic abnormalities and mutations in the MET proto-oncogene Chr7
    - - Bilateral tumours with papillary architecture
- - - - Asymptomatic
      - Found at autopsy
    - - Chronic Kidney Disease
      - Smoking
    - - Small, discrete <15mm
      - Renal cortex
      - Pale yellow-gray
      - Well circumscribed nodules
      - No surrounding capsule
      - Papillary architecture
    - - Arise from renal tubular epithelium
  - - - Usually no symptoms
      - Susceptible to spontaneous haemorrhage and life-threatening bleeding
    - - Vessels (Angio)
      - Smooth muscle (myo)
      - Fat (lipo)
    - - Tuberous Sclerosis
    - - Arise from perivascular epithelioid cells
  - - - Usually Asymptomatic
        -ID incidentally on imaging
      - Haematuria
      - Flank pain
    - - Adults >50
      - Men
    - - Intercalated cells of collecting ducts
    - - Epithelial neoplasm
      - Large eosinophlilic cells
      - Small, round, benign-appearing nuclei
      - Large nucleoli
    - - Bir-Hogg-Dubé syndrome
- - - - 60s-70s
      - Men
      - Smokers
    - - Smoking
      - Chronic Kidney Disease
      - Hyerptension
      - Obesity
      - Genetics
      - Oestrogen therapy
      - Toxic exposure
    - - Triad
        
        Costovertebral pain
        
        Papable mass
        
        Haematuria
      - Systemic symptoms
        
        Fever
        
        Malaise
        
        Weakness
        
        Weight loss
      - Paraneoplastic Syndromes
        
        Polycythaemia
        
        Hypercalcaemia
        
        Hypertension
        
        Hepatic dysfunction
        
        Feminisation / virilisation
        
        Cushing's syndrome
        
        Eosinophilia
        Leukaemoid reactions
        Amyloidosis
    - - Metastasise widely before causing symptoms
      - Locations
        
        Lung
        Cannonball mets
        
        Bones
        
        Lypmh nodes
        Liver
        Adrenal
        Brain
    - - Sugical resection
      - Tyrosine kinase inhibitors of VEGF or mTOR pathways
    - - Clear cell renal cell carcinoma
        
        Composition
        
        Cells with clear / granular cytoplasm
        
        Without papillary achitecture
        
        Causes
        
        Sporadic
        
        Familial
        
        Genetics
        
        Mutation / loss of sequence on Chr3p
        
        Risk Factors
        
        Von Hippel-Lindau syndrome
        
        Molecular Mechanisms
        
        VHL gene function
        
        Encodes proteins for protein degradation
        
        Loss of VHL leads to accumulation of target proteins
        
        Hypoxia-Inducible factor-1
        
        VHL regulates HIF-1 ensuring degradation
        
        Elevated HIF-1 in loss of VHL
        
        Inappropriate expression of HIF-1 activated genes
        
        VEGF and IGF1
        
        Colaborates with oncogene MYC, favouring growth and proliferation
        
        VEGF
        
        Promotes angiogenesis
        
        IGF1
        
        Supports cell growth
        
        Epidemiology
        
        🥇MOST Common malignant renal neoplasm
      - Papillary renal cell carcinoma
        
        Morphology
        
        Circumscribed
        
        Papillary or tubopapillary architectue
        
        Mutifocal or bilateral
        
        Cause
        
        Familial
        
        Sporadic
        
        Genetics
        
        Sporadic
        
        Trisomy 7 and 17
        
        Loss of Y
        
        MET mutations
        
        Familial
        
        Mutations in MET Chr7 proto-oncogene
        
        Epidemiology
        
        🥈SECOND most commone malignant renal neoplasm
      - Chromophobe renal cell carcinoma
        
        Morphology
        
        Prominent cell membranes
        
        Pale eosinophilic cytoplasm
        
        Halo around 'raisinoid' nucleus
        
        Genetics
        
        Multiple chromosome losses
        
        Extreme hypodiploidy
        
        Origin
        
        Inercalated cells of collecting ducts
        
        Prognosis
        
        Excellent
      - Clear cell papillary renal cell carcinoma
      - Multilocular cystic renal cell carcinoma
      - Collecting duct carcinoma
        
        Origin
        
        Collecting duct cells in medulla
        
        Presentation
        
        Haematuria
        
        Back pain
        
        Fatigue or weight loss
        
        Aggressive - presents at advanced stage
        
        Metastasis
        
        Lungs
        
        Liver
        
        Bone
        
        Adrenal glands
        
        Brain
        
        Prognosis
        
        66% mortality at 2 yrs
        
        Genetics
        
        Several chromosomal losses and deletions - no distinct molecular pattern
        
        Morphology
        
        Malignant cells forming glands within prominent fibrotic stroma
      - SMARCB1-deficient Medullary carcinoma
        
        Morpholgy
        
        Similar to collecting dct carcinoma
        
        More areas of solid growth
        
        Inflammatory infiltrate - neutrophiles
        
        Predominantly right kidney
        
        Risk Factors
        
        Sickle cell trait (HbSA and HbSS)
        
        HbSC disease
        
        Prognosis
        
        Very aggressive
        
        8 months
      - Xp11 translocation carcinoma
        
        Morphology
        
        Clear cytoplasm with papillary architecture
        
        High grade nuclei with numerous psammoma bodies
      - TFE-Rearranged Renal Cell Carcinoma
        
        Epidemiology
        
        Young pts
        
        Rare
        
        Genetics
        
        Translocation of TFE3 gene on Xp11.23
        
        Overexpression of TFE3 transcription factor
  - - - Urothelium of renal pelvis
    - - Visible haematuria
      - Urinary retention
      - Palpable hydronephrosis
      - Flank pain
    - - Histologically a counterpart to urinary bladder tumour
      - Infiltration of wall of pelvis and calyces
    - - Herditary non-polyposis colorectal cancer (HNPCC) aka Lynch Syndrome
      - Analgesic nephropathy
    - - Poor - 50% survival in 5yrs