Review on t(3;9)(p13;q34.1) FOXP1/ABL1, with data on clinics, and the genes involved....

Gamma heavy chain disease (HCD) is a rare variant of HCD, a family of syndromes associated with or representing a B cell malignancy variant. The hallmark characteristic and the pathogenic mechanism of HCD is the synthesis of a mutant, misfolded immunoglobulin heavy chain (IgH) incapable of either reaching a quaternary conformation with the immunoglobulin light chain (IgL) and/or being degraded by the proteasome. The isotype of mutated IgH (α,γ or μ) determines the nomenclature of HCD subtypes. Less than 200 cases of gamma HCD have been published. Gamma HCD predominantly affects women in their 5th-6th decade of life, and a pre-existing autoimmune disease is present in about a quarter of patients. Rheumatoid arthritis (RA) is the most commonly associated autoimmune disorder, but association with systemic lupus erythematosus (SLE), Sjögren syndrome, myasthenia gravis, vasculitis and idiopathic thrombocytopenic purpura (ITP) has been reported. The vast majority of patients with gamma HCD have a localized or systemic lymphoplasmacytic lymphoma. Gamma HCD patients can present with disseminated lymphomatous involvement, localized (medullary or extramedullary) lymphomatous disease or with no apparent lymphomatous involvement. Disseminated lymphoma is the most common form, being diagnosed in 57-66% of patients with gamma HCD. These patients typically present with B symptoms such as fever, fatigue, and unintentional weight loss. Circa half of the patients have generalized lymphadenopathy, splenomegaly, and more rarely hepatomegaly. Twenty-five percent of patients with gamma HCD present with either localized medullary disease or localized extramedullary disease. Lymphomatous infiltration is present only in the bone marrow in the former, and in extranodal sites in the latter. The most common site of extranodal involvement is the skin, although involvement of thyroid and parotid, oropharynx, and gastrointestinal tract has been reported. Gamma HCD patients with no identifiable lymphoma at diagnosis (~9-17%) typically have a pre-existing autoimmune condition, with associated symptoms and signs. Definitive diagnosis is based on the identification of a gamma immunoglobulin heavy chain (IgH) without associated Ig light chain (IgL) assessed using serum or urine protein electrophoresis (SPEP or UPEP, respectively) and immunofixation (IF). Treatment ranges from expectant management for patients with no detectable lymphoma, to local surgical or radiation therapy for localized extramedullary disease, and combination therapies for systemic and localized medullary disease. Prognosis is very good in patients with no detectable lymphoma or completely treated, limited extramedullary lymphoma; patients with systemic disease can have a rapidly aggressive or more indolent course with highly variable median survival (1 month to over 20 years)...

Review on i(18)(q10) in haematological malignancies, with data on the genes involved....

Kallikreins (KLKs) constitute a family of 15 homologous secreted serine proteases (KLK1-15), which participate in numerous physiological procedures. All KLKs are encoded by the largest contiguous cluster of protease genes in the human genome (19q13.3-13.4). In specific, the human KLK13 gene spans a region of 8905 nucleotides, comprises 5 exons and 4 intervening introns and produces a single mRNA transcript that encodes KLK13 precursor protein. Like the rest of the KLK genes, KLK13 gene encodes for a trypsin-like serine peptidase, the functions of which are still unclear. KLK13 expression has been detected in a variety of human tissues and is found to be associated with several types of cancer. Evidence has showed that KLK13 can be an independent biomarker of favorable prognosis in breast cancer patients and may potentially be able to identify patients likely to benefit from hormonal treatment. In addition, major prognostic abilities of KLK13 have been confirmed in nonsmall cell lung cancer as well as gastric cancer, as patients with KLK13 overexpression demonstrated significantly longer overall (OS) and disease-free survival (DFS) accordingly. Although the precise localization and structure of the KLK13 gene has now been fully identified, its functional roles and implication mechanisms to human malignancies are still not conveniently understood and merit further investigation....