Fluorescent In Situ Hybridization (FISH).

In situ hybridization (ISH) is a technique that uses nucleic acid probes to allow for visualization of nucleic acid sequences in cellular/tissue preparations. Both enzymatic and fluorescent ISH studies can be used as adjunct studies, and in some cases are vital to making specific diagnoses. This chapter will focus on fluorescent in situ hybridization.

Late breast cancer recurrence with bone marrow metastases and acute pulmonary hypertension.

Bone marrow is one of the most common sites of metastasis from breast cancer. Micrometastases to the bone marrow usually evade the systemic therapies used for the treatment of cancer and eventually lead to relapse later in the course of the illness. We report here a unique case of parallel progression of these bone marrow metastases in a patient with breast cancer who had a relapse a few years after treatment of her primary breast cancer, and she presented with diffuse marrow involvement and pulmonary hypertension without any definitive metastases elsewhere.

An unusual presentation of chronic lymphocytic leukemia.

Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is a B-cell lymphocytic neoplasm with indolent clinical course. If identified early, observation is opted. Many variables lead to the initiation of treatment.

The utility of B-cell receptor gene rearrangement studies in diagnosing diffuse large B-cell lymphoma with plasmacytic differentiation.

We present the case of a 50-year-old man with nodal diffuse large B-cell lymphoma characterized by CD10, BCL-6, and BCL-2 expression and a complex karyotype, including t(14;18)(q32;q21) and del6q, suggesting transformation from an antecedent follicular lymphoma. Following rituximab-based chemotherapy, residual nodal disease was characterized by a proliferation of plasmacytoid cells positive for CD138, MUM-1, and cytoplasmic kappa light chain. Immunoglobulin heavy chain and kappa light chain gene rearrangement studies detected the same clone in the diagnostic and post-therapy lymph node specimens.

First reported case of Ehrlichia ewingii involving human bone marrow.

A 65-year-old female with a history of multiple tick bites presented with fever and pancytopenia. Intracytoplasmic rickettsial morulae were detected on peripheral smear and bone marrow biopsy specimens, and PCR amplified Ehrlichia ewingii DNA from both specimens. To our knowledge, this is the first report of E.

Sudden death in a child with Carpenter Syndrome. Case report and literature review.

Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia. We present a case of unexpected death of a 7-year-old boy with Carpenter Syndrome complicated by twin and premature birth as well as repaired congenital heart disease.