INTERESTING ASPECTS OF GERM CELL TUMORS

*In the retroperitoneum, involvement is always associated with Testicular involvement (even non palpable)
whereas Mediastinal involvement could be primary.
*no matter the stage, the objective of the treatment is cure.
*Cryptorchidism needs to be corrected before Puberty to monitor the testicle and reduce the risk of Neoplastic transformation.
*men with HIV, are more likely to have a Seminoma
*klinefelter syndrome is associated with Mediastinal involvement
*In situ presence marks a 50%risk of cancer development within 5 years
*with a Seminoma in 1 Testicule, there is a 2 % concurrent chances of presence in the other testicle!
*Deletion of short arm of  Xsome 12 is present in 80%, the rest have some form of hyperpliody involving 12p.

Genes involved

1.KRAS, " normal tissue signaling, and the mutation of a KRAS gene is an essential step in the development of many cancers.^[3] Like other members of the Ras family, the KRAS protein is a GTPase and is an early player in many signal transduction pathways. KRAS is usually tethered to cell membranes because of the presence of an isoprenyl group on its C-terminus." wikipedia
It is interesting to know that with KRAS activation follow the activation of RALGDS which through the Arrestins wake up the DVL (devil) preparing the cell to early proliferation and metastasis through the Wnt.

2.SOX5
a member of a Core Binding protein /Homebox that direct toward male differentiation, blockage here by Mutation returns some of the totipotentiality to the cell by blocking differentiation (which include Male Brain transformation).
It is believed or speculated that Older Man will have methylation issue at this gene leading to autistic children since this gene is definitely involved with Brain formation/Autistic transformation!

3.CCND2:  BELONGS TO THE CYCLINS!
" This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors.^[2]WIKIPEDIA


 4.JAW1
re-enforcing the notion that membrane perturbances are critical in Testicular cancer
as this gene allow the eluding from Class I molecule detection and disturb anti-proliferative and pro-apoptotic function!

" JAW-1 affects
Calcium release from the endoplasmic reticulum controls a number of cellular processes, including proliferation and contraction of smooth muscle and other cells and contributes to the antiproliferative and proapoptotic effects of nitric oxide and cGMP. (from LocusLink and OMIM)".   WHAT IS IN COMMON TO THESE 4 GENES TO SHOW THAT THEY POTENT GENES, DEFICIENCY OF THESE GENES LEADS TO MALFORMATION (FACIAL OR OTHERWISE!)