Molecular Pathology — Flashcards

Flashcard 81: What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Answer: PCR

Flashcard 82: Activating mutation in _____ is responsible for bladder carcinoma.

Answer: HRAS

Flashcard 83: Dermatofibrosarcoma protuberans and hypereosinophilic syndrome are both associated with the __________ signaling pathway

Answer: PDGFR (Platelet-Derived Growth Factor Receptor)

Flashcard 84: Downregulation of miR-_____ has been shown to promote epithelial-mesenchymal transitions (EMT) important in invasiveness and metastasis.

Answer: 200

Extra: The miR-200 family normally suppresses ZEB1 and ZEB2 (transcription factors that promote EMT). Therefore, the **downregulation** or loss of miR-200 leads to epithelial-mesenchymal transition (EMT), which is critical for metastasis.

Flashcard 85: Mutations of the _____ gene in 97% of adult granulosa cell tumors

Answer: FOXL2

Flashcard 86: Which chromosome mutations are associated with bladder cancer?_____

Answer: 9p and 9q

Flashcard 87: What is the common mutation seen in sporadic breast carcinoma?_____

Answer: PIK3CA

Flashcard 88: The presence of _____ mutation is associated with poor prognosis in chronic lymphocytic leukemia (CLL)

Answer: NOTCH1

Flashcard 89: Best's disease is caused by a mutation on a _____ gene.

Answer: bestrophin-1 (BEST1 / VMD2)

Flashcard 90: Carney- Stratakis syndrome occurs because of loss of _____ gene function and presents as GIST and familial paraganglioma

Answer: SDH