Rare Cancer syndromes

Question 1

Britt-Hogg Dube

Answer 1

FLCN gene, AD
Increased risk for renal cancer (6.5-35%)
other cancer risks: parted, thyroid, colon, breast, lung, gastric, melanoma
noncancerous findings: pnuemothorax, fibrofolliculomas
Screening for renal tumors starting at age 20, colonoscopies 10 years before family onset

Question 2

Autoimmune Lymphoproliferative syndrome (ALPS)

Answer 2

Germline FAS (AD), Somatic FAS , FASLG (AR), CASP10 (AD)
blood cancer in lymphatic system (non-hodgkin most common)
presentation: excessive amounts of lymphocytes that attach tissues and body
other cancer risks: carcinoma (thyroid, breast, skin, tongue liver)

Question 3

Carney Complex Type 1

Answer 3

increase risks for tumors throughout body
increase cancer risks: liver, ovarian, testicular, pancreatic

Question 4

Hereditary leiomyomatosis

Answer 4

FH gene; AD
early onset on uterine leiomyomas, early onset f type 2 papillary renal cell carcinoma

Question 5

Nevoid Basal Cell Carcinoma

Answer 5

PTCH1/2, SUFU
increase risk for basal cell carcinoma