CAP CHECK SAMPLE Flashcards
SMARCA4 gene encodes what?
SMARCA4 gene encodes a catalytic subunit of the SWI/SNF chromatin remodeling complex and has tumor suppressor functions. SMARCA4 mutations have been linked to malignant rhabdoid tumors, small-cell carcinoma of ovary – hypercalcemic type, non–small-cell lung cancer, and recently to undifferentiated gastroesophageal carcinomas (GECs).
Tumors with pathogenic SMARCA4 missense mutations tend to be lower grade (mostly moderately differentiated) and had SMARCA4 protein expression by IHC, whereas those with protein-truncating mutations tend to be higher grade (mostly poorly differentiated) and showed loss of SMARCA4 IHC. But these 2 groups did not show significant differences in progression-free survival and overall survival.(Reviewer–Zimin Zhao, MD).
Hemophagocytic lymphohistiocytosis (HLH)
Hypertriglyceridemia (≥265 mg/dL) combined with gHPCs (granulocytic hemophagocytic cells) increased specificity for HLH diagnosis to 95.2%. Other markers like ferritin and fibrinogen were less predictive.
4 molecular categories of endometrial carcinomas
ultramutated polymerase epsilon (POLE)-mutant.
microsatellite instability-high (MSI-H).
copy number-high (CN-H).
copy number-low (CN-L).
FIGO grades were not significantly associated with survival in MSI-H and POLE-mutant EECs. Molecular profile was better at predicting clinical behavior in these tumors and should override FIGO grading.
Reviewer’s Comments: MMR and p53 IHC is usually but not always accurate. FIGO grading predicts prognosis only in the CN-L molecular group.(Reviewer–Zimin Zhao, MD).
What is the follow up of papillary lesions on breast core biopsy??
Surgical excision should be used for all papillomas with atypia and for papillomas without atypia in patients aged ≥55 years. For younger patients, careful clinical follow-up may suffice.
Third most common salivary malignancy in adults
Acinic cell carcinoma. (after mucoepidermoid carcinoma and adenoid cystic carcinoma)
Color of dermatophytosis organisms on H&E
Dermatophytes clear.
Candida and piteroposrom bluish
Erythrasma
Anal genital and axilla. Bacteria in orthokeratosis (thickened). Thin hair like organisms.
spaghetti and meatballs in keratin layer (can look like candida)
malassezia. Pityriasis versicolor
The hyphae filaments used to be called ‘Malassezia’ and the yeast forms were called ‘Pityrosporum’, but mycologists eventually realised they were the same bimorphic organism.
Malassezia species are difficult to grow in the laboratory so scrapings may be reported as ‘culture-negative’. The yeast grows best if a lipid such as olive oil is added to Littman agar culture medium.
small organisms that can be seen in histiocytes and look similar.
Leishmania and histoplasmosis
Hansen disease
Leprosy
Malassezia.
Malassezia species inhabit the skin of about 90% of adults without causing harm. In some people, the yeast suppresses the body’s expected immune response to it allowing it to proliferate and cause a skin disorder, often with very little inflammatory response. When malassezia is associated with dermatitis, it is thought that irritating metabolites of the yeasts may be responsible (free fatty acids are hydrolysed from triglycerides).
Predisposing factors to Malassezia skin disease include:
Humidity
Sweating – hence pityriasis versicolor is common in tropical areas
Oily skin (seborrhoea) – hence it is found mainly on scalp, face and upper trunk
Acne and its treatment with oral antibiotics such as tetracyclines
Immunodeficiency (eg, HIV infection), systemic corticosteroids, or immunosuppression by medications.
Skin conditions caused or aggravated by infection by malassezia include:
Pityriasis versicolor – most often due to M. globosa, M. sympodialis and M. furfur
Malassezia folliculitis due to the yeast growing in the hair follicles where they produce inflammation
Steroid acne
Seborrhoeic dermatitis, dandruff, sebopsoriasis and facial or scalp psoriasis - – most often due to M. restricta and M. globosa.
Neonatal cephalic pustulosis, a pustular eruption on young babies that resembles infantile acne
Pseudochromhidrosis
Possibly, some cases of confluent and reticulated papillomatosis, a pigmented eruption occurring mainly on the chest, back and neck of adolescent girls
Some facial atopic dermatitis; in this case there may be specific IgE antibodies directed against Malassezia and positive prick tests to the organism
Rarely, invasive pityrosporosis in immunodeficient individuals.
Molecular analysis for synovial sarcoma.
Molecular analysis demonstrates t(X;18)(p11;q11), resulting in fusion of the SS18 and SSX1 genes. SS have a pathognomonic t(X;18) present in > 95% of cases. This translocation
leads to fusion proteins of different combinations of the SS18 and SSX genes, including SS18::SSX1, SS18::SSX2 or SS18::SSX4.
IHC for synovial sarcoma
Immunohistochemistry shows very weak keratin staining and positivity for BCL2, CD99, and TLE1
Epithelioid sarcoma vs
Epithelioid sarcoma (ES) is a rare tumor occurring in both pediatric and adult populations. Histologically, ES often shows epithelioid and spindle cell morphology, although rhabdoid features can also be prominent in more aggressive lesions. Immunostains often show positive epithelial markers, including pan-cytokeratin,
EMA, and various other cytokeratins, and may therefore bring a biphasic SS into the differential list. INI1 is lost in 90% of ES versus the reduction (but not complete loss) of INI1 often found in SS. CD34 and TLE1 are likely the most useful markers in this differential, as ES is TLE1 negative, and often CD34 positive (approximately 50% of the time).
