Thelansis

Adrenocortical carcinoma (ACC) is rare cancer that affects the adrenal gland and primarily affects individuals in early adulthood and between the ages of 40-50. Women are more commonly affected, comprising 55-60% of cases. The majority of ACC cases are of sporadic origin. However, they can also develop as part of familial diseases such as Beckwith-Wiedeman syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia (MEN), and familial adenomatous polyposis (FAP). There are three main clinical presentations of ACC: hormone excess symptoms and signs in 40-60% of patients, non-specific symptoms due to local tumor growth such as abdominal or flank pain, abdominal fullness, or early satiety in a third of patients. Although the specific genetic alterations involved in ACC development are currently unknown, chromosomal abnormalities have been identified in hereditary neoplasia syndromes. The Wnt/β-catenin constitutive activation and insulin growth factor 2 (IGF2) overexpressi...

 Acoustic neuroma, also referred to as vestibular schwannoma (VS), acoustic neurinoma, vestibular neuroma or acoustic neurofibroma, is a benign, slow-growing neoplasm arising from the sheath of the vestibular branch of the vestibulocochlear nerve. It is the most common tumor of the cerebellopontine angle and the internal auditory canal. Its symptoms include hearing loss in one ear, noise in the ear, balance problems, and vertigo. The Schwann cells that invest the vestibular portion of the vestibulocochlear nerve cause the vast majority of cases, with less than 5% arising from the cochlear nerve. With roughly equal frequency, the superior and inferior vestibular nerves appear to be the nerves of origin. It is classified into two types: sporadic acoustic neuroma, unilateral and genetic, and bilateral acoustic neuroma. Sporadic, unilateral acoustic neuromas are tumors on one side of the body in 95% of patients. They are caused by sporadic (sudden) nonhereditary mutations and occur mos...

 22q11.2 deletion syndrome (DS 22q11.2), also known by several other names, such as "DiGeorge syndrome" and "velocardiofacial syndrome", is a rare genetic disorder caused by a deletion of the long arm of chromosome 22, specifically at locus q11.2. This deletion is most commonly a 3 million base pair deletion caused by non-allelic meiotic recombination during ovogenesis or spermatogenesis. In most cases, there are no other cases in the family (de novo), but in about 10% of cases, the syndrome is inherited from a parent. The risk of recurrence between siblings in a de novo case is 2–3% due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child. The TBX1 gene is one of the main genes involved in the typical abnormalities associated with the disorder, including the development of the bone structure of the face and neck, the development of large arteries, the structure of the ears, and the development of the thymus and ...