P.TalarčíkCytopathos

Vek 5 ročný chlapec

Klinika: xeroderma pigmentosum, mnohopočetné metachrónne/synchrónne bazocelulárne a squamocelulárne karcinómy, keratoakantóm, FEP, aktinická keratóza, dysplastický pigmentový névus, všetky tumory v oblasti tváre

Makro: excízia kože 5mm, bez prominencie z oblasti cutis regio anguli oris superioris

Desmoplastic neurotropicangiotropic melanoma

•Neurotropic/perineural,endoneural,neural diff./

•Angiotropic

•Folliculotropic

•Syringotropic

•M.arrector pillorum musculotropic

•Amelanotic

• Desmoplastic omnitropic melanoma

R.Barnhill et al : Less commonVariants of cutaneus melanoma.Emerging cancer therapeutics 3:3, 421-460, 2012

• pure DM

• desmoplastic neurotropic m.

• pure neurotropic, spindle cell, no desmoplasia, epitheliod cell /conventional+neurotropic?/

• mixed/combined variants of DM/DNM with 10-50% of conventional melanoma, e.g. spindle cell/epitheliod

Desmoplastic neurotropic/angiotropic melanoma.

• disparate dignity versus conventional melanoma

• may look deceptively indolent in picture

• less than 4mm/intermediate grade neurocristic

sarcoma??, no correlation Breslow versus sentinel

• olders 60s-70s, predominance of males, but almost any age!!

• head´n´neck, but almost everywhere

• desmoplastic and neurotropic overlap

• p75 NGF-R

• HMB-45, Melan-A more often negative

• S100 positive /almost allways/

• SOX10-all melanomas, CCS, MPnST

•PnL2, conventional sens.75-100%, no DM

•CD146/Mel-CAM all melanomas

•Aberrant expression keratins, CD68, CD34, SMA etc.

Desmoplastic neurotropic/angiotropic melanoma.

Differential diagnosis- do not hesitate to be paranoic looking at everything spindle

• scar/cellularity,elastosis, lymph.agg., adnex., lack ofhorizontal fibrosis, extravasation

• desmoplastic/sclerosing nevi, Spitz, amelanotic blue, desmoplastic neurothecoma

• dermatofibroma, neurofibroma, spindle-cell AFX

•DFSP, Bednar tumor

• any cutaneus spindle-cell monomorphic sarcoma

• spindle cell sarcomatoid sq.cell carcinoma

Prognosis, prediction, managment, follow-up-

•Pure DM/DnM better prognosis?

•Mixed forms may combine dignity of components

• 95% of pure DMs BRAF wild-type

• quick diagnosis, margin 1-3 cm

Xeroderma pigmentosum.

• rare autosomal recessive disorder, consanguinity

• genetical heterogenous

• defects in nucleotide excision repair genes /NER/

•Incidence 1/1000 000

• More common Japan, Middle east, North Africa

• no sex predilection

•First describtion by Hebra et Kaposi 1874

• 1 000-fold increased risk for non-melanomacancer under the age of 20

• median age for non-melanoma skin cancer 8 yrs of age

• 10-20-fold increased risk for internal malignancies