Hereditary Breast and Ovarian Syndrome
Lynch Syndrome
Pelvic mass
Did you pay attention?
Genetics
Potpourri
Potpourri
100
Chromosome 13
What is location of BRCA2.
Chromosome 17=BRCA1
Chromosome 13=BRCA2
tumor suppressor genes
AUTOSOMAL DOMINANT
100
4 genes associated with Lynch
What are MLH1, MSH2, MSH6, PMS2
and EPCAM by inactiving MSH2
100
Most common epithelial ovarian tumor
What is serous cystadenoma?
100
45 yro with abnormal pap comes in after colposcopy. results show 3 o'clock biopsy is positive for squamous cell carcinoma
Next step?
What is LEEP or CKC?
100
Cancers associated with BRCA2
What are melanoma, pancreatic, prostate?
BRCA1=prostate
200
5 genes associated with BRCA 1 and 2 genes
[BROCA genes]
What is ATM, BRIP1, CDH1, CHEK2, RAD51C, RAD51D, PALB2, PTEN, STK11, TP53
200
Cancers associated with Lynch (name at least 6)
Endometrial, colon, ovarian, stomach, pancreas, biliary, small bowel, renal/ureter, brain,
200
Dr. Lee is seeing a consult with a large 20cm pelvic mass. CT scan shows a large mass, no other signs of disease. CA-125 is 33, AFP is <3, Ca19-9 is 10, inhibin b is 300, CEA is 3.3
What is a granulosa cell tumor?
200
Postpartum hemorrhage patient s/p B-lynch with epidural for postop pain control. Time required to pull epidural from last injection of heparin?
What is 4-6 hrs?
200
Age of risk reducing hyst-BSO for Lynch
What is early to mid 40s?
age 40: Risk of EMCA 2-4% and OVCA 1-2%
age 50: Risk of EMCA 8-17% and OVCA 3-7%
surgical risk: 4%
300
Age recommended for a RRSO for BRCA1.
What is Age 35-40?
Age 40-45 is for BRCA2.
300
Screening for Lynch syndrome (endometrial and colon)
What is EMB every 1-2 years starting at 30-35.
Colonoscopy every 1-2 years starting at age 20-25 or 2-5 years from earliest colon cancer
300
Dr. Chien sees a patient with a 6cm pelvic mass. She is a 37yro female. She takes her for an ovarian cystectomy. Pathology report discusses ectoderm, mesoderm, and endoderm, notable for neural differentiation
What is immature teratoma?
300
Patient with HSIL vulvar biopsy. You are a well-trained OBGYN and not afraid of Vulvar dysplasia. You take her for a WLE.
Margins
What is 0.5-1cm margins?
300
Pancreatic cancer risk associated with BRCA2
What is 7% lifetime risk?
400
Breast cancer screening for BRCA (both age ranges and tests)
What is age 20-29 with q6-12 month exam and annual mammogram/breast MRI?
What is age 30+ with mammogram and breast MRI q 6month?
400
53 yro female under goes hysterectomy for AUB. Pathology shows Stage IA endometrioid endometrial cancer. Dr. Cheng asks pathology to do IHC testing for mismatch repair. Loss of MLH1 staining on pathology.
the next step.
What is ordering MLH1 methlylation testing.
If methylation present, then Lynch is not germline
If methylation absent, then order germline testing.
400
Dr. Aucoin sees an inpatient. Large 30 cm mass in a 53 year old. Ca125 is 25. Has debris in the cyst on US. Most likely neoplasm
Mucinous cystadenoma.
400
Other management besides surgery for Vulvar HSIL
What is laser ablation, aldara, 5FU, cidofovir, phototherapy
400
RRSO technically done
How many cm of ovarian vessels, path, what is documented in operative report?
Pelvic washings collected, document in op findings diaphram, liver, omentum, bowel, paracolic gutters, ovaries, tubes, uterus, bladder serous, cul-de-sac, 2 cm of ovarian vessels and serial sections of ovary and tubes. SEE-FIM (sectioning and extensive eval of fimbrae 2mm)
500
Criteria for genetic testing in a woman WITHOUT cancer
-a first degree or several close relatives that met above criteria [BOX1]
-a close relative with a known BRCA mutation
-a close relative with male breast cancer.
500
3:2:1 rule
3 affected family members, 2 generations, 1 relative under 50 years of age
500
Dr. Favia assists in the removal of 10 cm mass. She sends it to frozen section as she is operating with Dr. Hutchcraft. Pathology calls back and says, "yep, I see call exner bodies. Lots of them".
Tumor?
What is granulosa cell tumor?
500
A patient with stage IV endometriosis is scheduled for total abdominal hysterectomy. She has an average risk of major surgical bleeding complications and a Caprini score of 7. Heparin options are contraindicated. According to this ACOG Practice Bulletin, which of the following is recommended for this clinical setting?
edoxaban
betrixaban
rivaroxaban
Fondaparinux
what is fondaparinux?
500
Dr. Dixit is seeing an annual exam patient. She is a BRCA1 gene mutation patient that was treated for breast cancer with a left mastectomy, chemo and radiation. She is here for her annual exam and wants to talk about her risk of breast cancer in the other breast.
What is 30%?
30% contralateral recurrence in the other breast in 10 years after initial diagnosis.