The SAC component of these lesions consists of cells that, along with their nuclei and cytoplasm, vary greatly in size and shape. The cells may be rapidly proliferating, have atypical mitosis figures, and may be invading nearby neural or lymphovascular structures; they do not arrange into intertwining strips of small and large cells. High-grade SAC tissues show a more severely disturbed architecture, more marked variation in cell, nuclei, and cytoplasm sizes and shapes, and more rapidly proliferating cells than low-grade SAC tissues. SAC tumor tissues may show various other features, e.g. they may closely resemble sarcomas. In rare cases, SAC has been reported to apparently arise de novo, i.e. begin as malignant lesions. Gene abnormalities
Studies indicate that a minority of SA and SAC cases have one of two potentially disease-causing mutations in their tumor cells: loss-of-function (i.e. gene-inactivating) mutations in the CYLD gene in 5 of 17 SA and 2 of 24 SAC cases or gain-of-function (i.e. gene-activating) mutations in the ALPK1 gene in 7 of 16 SA and 4 of 14 SAC cases. The two mutations are mutually exclusive, i.e. do not occur together in any individuals tumor(s). Both mutations result in blocking the actions pf NF-κB. NF-κB is a transcription factor which acts indirectly to stimulate the expression of various genes that trigger cell death by apoptosis and necroptosis and also inhibit cell proliferation (see CYLD genes mechanism of action).
Vaginal dilators may be pressed alongside the vaginal area on a regular basis in order to further open the vaginal canal. Franks procedure is a technique that used a progressive series of vaginal dilators that are inserted into the dimple of the vagina while using pressure. This will widen any space that exists between the bladder and the rectum. Franks procedure can be performed directly by the patient, therefore requiring no surgery or anesthesia. The procedure/technique can take months to complete, with regular compliance necessary. The overall success rate for females who use Franks procedure is 80%. If this procedure does not work, then surgery would be the next method of treatment. Another alternative form of treatment would be surgery, or the creation of a new vagina. Prognosis
The prognosis for vaginal atresia is one that is complicated. There are variations in patients anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition. Along with other conditions that give rise to an abnormal perineum (i.e. ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal atresia often report reconstruction as an outcome of treatment. Due to this, it is difficult to compare outcomes between individuals with vaginal atresia. Rokitansky-Mayer-Küster-Hauser Syndrome
Fertility options for girls and women with Rokitansky-Mayer-Küster-Hauser syndrome has a bit more information.