Pheochromocytoma, a neuroendocrine tumor of the adrenal medulla, and paraganglioma, a tumor derived from neural crest progenitor cells outside the adrenal gland, have a strong genetic basis, with up to 40% of cases displaying germline mutations and another 25-30% carrying a somatic mutation.

Retroviruses, such as the human immunodeficiency virus (HIV-1), insert a copy of their genome into the host cell genome during a process called integration. This allows retroviruses to persist indefinitely in the infected cell as a provirus. During integration, the virally encoded integrase (IN) protein binds to various host factors that likely act as a tether between the viral IN protein and the host chromatin at the integration site.

The degree of cell proliferation is one of the most powerful prognostic features in breast cancer. Deltex E3 ubiquitin ligase 3 (DTX3), a member of the Deltex family, is located on 12q13.3 and is involved in neurogenesis and Notch signaling. DTX3 has been suggested as a potential driver gene of cell proliferation in luminal subtypes of breast cancer and has been associated with poor prognosis. However, studies of DTX3 in different cancers have found different results; in esophageal cancer, DTX3 was associated with reduced proliferation of tumor cells, and in colorectal cancer, DTX3 was proposed as an endogenous control gene for gene expression analyses.

Plott syndrome, or familial congenital bilateral laryngeal abductor paralysis, was first described by Plott and colleagues in 1964 and has been reported twice since that time. Clinical expression has been limited to male children, and inheritance patterns have suggested Plott syndrome to be an X-linked recessive disorder. However, no conclusive genetic or chromosomal aberration has been reported to date, and no genetic tests have been conducted on any of the affected families. In this case, the authors report a new family with Plott syndrome and present data to suggest that Plott syndrome is caused by a 404kb fragment inserted into the intergenic chromosomal region Xq27.1.

B-cell acute lymphoblastic leukemia (B-ALL), the most common childhood cancer, features a substantial subgroup of patients with chromosomal gains (hyperdiploidy). Patients with a modal chromosome number >50 (high hyperdiploidy; HHD) account for nearly 30% of B-ALL cases and typically have a more favorable prognosis. Although HHD represents an important prognostic factor in childhood B-ALL, the specific chromosome gains that most contribute to a favorable clinical outcome have yet to be established.

The patient originally presented for treatment of benign paroxysmal positional vertigo. A painless mass in her right external ear canal was identified, and further examination revealed an obstructing, friable lesion causing cerumen impaction.

Classical Hodgkin lymphoma (cHL) is characterized by the presence of Hodgkin and Reed-Sternberg tumor cells. In cHL, these malignant cells become surrounded by an immunosuppressive tumor microenvironment composed largely of reactive immune cells.

The accumulation of amyloid-β precursor protein (Aβ) plaques is characteristic of both cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD). Duplications of the amyloid-β precursor protein (APP) gene, which is located on 21q21.3, have been linked to early onset CAA and/or early onset AD.

Breast cancer is a highly heterogeneous disease that differs greatly between patients. As such, there is a need for new biomarker discovery that would allow for individualized diagnoses, treatments, and prognoses for breast cancer patients. In this study, the authors assessed the ability of CCND1 amplification to serve as a prognostic biomarker in breast cancer.

Among patients with breast cancer, luminal subtypes are the most common. Differences in prognosis have been demonstrated between the luminal subtypes, ranging from patients with an excellent prognosis to those who require much more aggressive treatment.