Cardiovascular Disease
Gene Spectrum of clinical features MOI Location/function HCM DCM ARVC RCM LVNC Other ABCC9 X AD Potassium channel ACTC1 X X X X AD Sarcomere ACTN2 X X AD…
PATHOLOGY & LABORATORY MEDICINE
Cystic Fibrosis
Figure 13.1 Examples of allelic configurations and their interpretations in carrier testing (a–d) and diagnostic testing (e–g) when classic or non-classic mutations are detected. *c.350G>A (p.R117H) and c.1210-12T (intron 8…
Mitochondrial Disorders
mtDNA mutations Gene Associated disorders m.583G>A MT–TF MELAS, mitochondrial myopathy and exercise intolerance [27] m.1494C>T MT–RNR1 Maternally inherited deafness or aminoglycoside-induced deafness [27] m.1555A>G MT–RNR1 Account for majority of patients…
Congenital Disorders of Glycosylation
CDG subtype Type of defect PMM2-CDG (CDG-Ia)* N-glycosylation MPI-CDG (CDG-Ib)* N-glycosylation ALG6-CDG (CDG-Ic)* N-glycosylation ALG3-CDG (CDG-Id)* N-glycosylation ALG12-CDG (CDG-Ig)* N-glycosylation ALG8-CDG (CDG-Ih)* N-glycosylation ALG2-CDG (CDG-Ii)* N-glycosylation DPAGT1-CDG (CDG-Ij)* N-glycosylation ALG1-CDG…
Genetic Counseling
Precounseling assessment Construct medical pedigree, review pertinent medical records, and perform clinical assessment Risk assessment Calculate risk for occurrence using medical pedigree, test results, medical literature, and Bayesian analysis Counsel…
Classification of Testicular Tumors
Germ cell tumors Intratubular germ cell neoplasia Seminoma Classic With syncytiotrophoblastic cells Spermatocytic seminoma (mention if there is sarcomatous component) Embryonal carcinoma Yolk sac tumor Choriocarcinoma Teratoma (specify if with…
Anatomy of the Kidney Revisited: Implications for Diagnosis and Staging of Renal Cell Carcinoma
Fig. 22.1 a This is a perifascial radical nephrectomy with massive main renal vein involvement by clear cell renal cell carcinoma . Gerota’s fascia is intact and visible as a…
Contemporary Prostate Cancer Staging
Primary tumor (T) TX Primary tumor cannot be assessed T0 No evidence of primary tumor a T2 Organ-confined disease T2a Unilateral disease, one-half of one lobe or less T2b Unilateral…
Urothelial Carcinoma Variants: Morphology and Association with Outcomes
Urothelial carcinoma variants Key morphologic features Urothelial carcinoma with divergent differentiation Urothelial carcinoma with squamous differentiation Urothelial carcinoma with clear-cut squamous features including keratin production and/or presence of desmosomes Urothelial…
Anatomy of the Urinary Bladder Revisited: Implications for Diagnosis and Staging of Bladder Cancer
Fig. 12.1 Normal microscopic anatomy of the bladder (actin immunohistochemical stain). The urothelium rests on a lamina propria composed of connective tissue, vessels, and nerves. A few small wisps of…
