Pathology Notes

MUTYH-associated polyposis   Updated: 03/02/2021 © Jun Wang, MD, PhD General features AKA MYH-associated polyposis Autosomal recessive Considered a mild form of familial adenomatous polyposis Biallelic mutation of MUTYH gene (DNA mismatch repair) Less 1% of patients with colorectal cancer Pathogenesis MUTYH mutation results in mutation of other genes , including APC and KRAS Clinical presentations Multiple colon polyps , usually less than 100, by age 50 to 60 Extracolonic presentations Polyps may be seen in other organs, such as stomach and small intestine Osteoma Sebaceous hyperplasia or adenoma , etc Pathological features Primarily adenoma Severe dysplasia at early age Genetic abnormalities MUTYH Diagnosis Suspicious presentations Cumulative 10 or more colorectal adenomas Colorectal adenoma with extracolic features of FAP Genetic testing for MYH Back to intestinal tumors Back to syndromes Back to contents

Rosacea Updated: 12/21/2023 © Jun Wang, MD, PhD   General features AKA acne rosacea May involve skin or eye More common in light skin populations, adult Five subtypes Erythematotelangiectatic Granulomatous Papulopustular Phymatous Ocular Usually clinical diagnosis Pathogenesis Unclear etiology, likely multi-factorial Immune dysfunction Ultraviolet radiation Physical or chemical trauma  Microorganisms: Demodex mites ( D. folliculorum and D. brevis ), bacillus oleronius Vascular hyper-reactivity Probably genetic background: family history Clinical features May involve skin and eyes Skin manifestions Central facial erythema Papules, pustules , flushing, telangiectasia Phymatous changes (rhinophyma) Ocular manifestions Lid margin telangiectases Interpalpebral conjunctive injection Spade-shaped corneal infiltrate Pathological findings Perifollicular lymphocytic infiltration and vascular ectasia Management Avoid triggering factors Laser, surgery, etc Back t...

Sepsis Updated: 06/28/2022 © Jun Wang, MD, PhD   Definition Life threatening organ dysfunction caused by a dysregulated host response to infection General features Organ dysfunction identified by acute change of 2 or more points in total SOFA score or qSOFA Likely prolonged ICU stay Relatively high mortality rate Commonly associated with infections of injury or internal organs and perforation/rupture of abdominal/pelvic structures Most commonly caused by bacterial infections, but can be caused by virus or fungi Systemic Inflammatory Response Syndrome (SIRS) A term being abandoned since 2016 Still being used clinically Poor mortality prediction comparing with Sequential Organ Failure Assessment (SOFA) Clinical responses to either infectious or non-infectious causes Sequential Organ failure Assessment (SOFA) A systemic evaluation of organ function Performed in critically ill patients with suspected sepsis Systems involved o    Cardiovascular: Bloo...

Serrated Polyposis Syndrome Updated: 02/28/2022 © Jun Wang, MD, PhD   General features Previously called hyperplastic polyposis syndrome More common age 50-60 Increased risk for colon rectal cancer Associated with cigarettes smoking and high BMI Increased risk of colorectal cancer Clinical presentations Usually asymptomatic Endoscopic findings of large or flat polyps Key morphological features Both adenomatous and hyperplasic changes Genetic abnormalities Overall uncommon BRAF: Type1, commonly female smokers KRAS: Type 2, RNF43 Diagnostic criteria More than 5 serrated polyps proximal to the sigmoid colon, at least 2 of these are larger than 1 cm Any serrated polyps proximal to the sigmoid colon in a patient with a first degree relative with serrated polyposis syndrome More than 20 serrated polyps of any size in the colon Treatment Polypectomy, complete removal recommended Colonoscopy every 1-3 years Surgery if treatment/surveillance inadequate First ...