SOLVE FOR THE NAME, FOLLOWING GIVEN RELEVANT CHARACTERISTICS.
I am a rare autosomal dominant syndrome with median presenting age of 11 (10-15 yrs).
Germline heterozygous loss-of-function mutation in gene STK11 (serine/threonine kinase) seen in half familial case and some sporadic also.
My presentation includes multiple GI hamartomatous polyps and dark blue to brown macules, called ___(a)____ on lips, nostrils, buccal mucosa, palmar surfaces of the hands, genitalia, and perianal region (contrast freckles). I can initiate intussusception that can be fatal.
The polyps I cause are most common in small intestine, then stomach & colon, rarely in bladder and lungs. Polyps appear large, pedunculated with lobulated contour.
My characteristic histology includes arborizing network of connective tissue, smooth muscle bundles cutting through lamina propria and glands lined by normal looking intestinal epithelium. This can help a contrast from _____(b)_______.
Critical to my diagnosis is multiple small intestinal polyps, mucocutaneous hyperpigmentation and positive family history.
STK11 mutation predispose to high-risk of neoplasia, as it is a tumor suppressor gene that regulates AMP-activated protein kinases (AMPK), which control cell polarization and act as a brake on growth and anabolic metabolism.
I lead to markedly increased risk of malignancy; so patient are screened as follows: from birth – for sex cord tumors of testes; late childhood – gastric and small intestinal cancer; second and third decades of life for colon, pancreatic, breast, lung, ovarian, and uterine cancers.
Colon cancer can develop at sites other than with polyps.
Hamartomatous polyps in genetic disease seen in me and ____(c)_____.