Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current study presents the case of a 54-year-old female with APL carrying the atypical PML/RARA fusion signal due to a novel complex variant translocation t(15;16;17)(q22;q24;q21), ...

JA. Malignant melanoma and lymphoproliferative malignancy: is there a shared aetiology? Br J Dermatol. 2000;143:171-173. 3. Healy E, Sikking S, Rees JL. Infrequent mutations of p in sporadic melanoma. J Invest Dermatol. 1996;107:318-321. 4. Seeberger H, Starostik P, Schwarz S, et al. Loss of Fas (CD95/APO-1) regulatory function is an important step in early MALT-type lymphoma development. Lab I...

We report the chromosomal findings in a 4-year-old female with precursor B-cell acute lymphoblastic leukemia (ALL). The diagnostic karyotype showed an isochromosome 7q, i(7)(q10), as well as questionable rearrangements on 9p and 11q. Fluorescence in situ hybridization (FISH) studies on both interphase and metaphase cells using the MLL "break-apart" and the centromeric chromosome 4 probes were i...

Human acute leukemia, with a chromosomal translocation involving chromosomes 4 and 11, t(4;11)(q21;q23), is the most common form of leukemia in infants and responds very poorly to conventional therapy. A human CD19+ mixed-lineage leukemia cell line with a t(4;11)(q21;q23) translocation, RS4;11, disseminated and proliferated in the hematopoietic tissues and other organs of mice with severe combi...

Papillon Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by diffuse palmoplantar hyperkeratosis, rapidly progressive and devastating periodonitis, pyodermas. The etiopathogenesis of the multifactorial, with genetic immunological factors playing a major role. Consanguinity contributing factor. Genetic mutations gene 11q14- q21 encoding for cathepsin-c, lysosomal ...

SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth. We report, in the present study, a female patient wit...

Cytogenetic investigations in two cases of anaplastic large cell lymphoma (ALCL) showed novel variants of the classical (2;5)(p23;q35) translocation, namely a t(1;2)(q21;p23) and a t(2;3)(p23;q21). The tumor cells in both cases gave positive immunohistochemical labeling for ALK protein (with both monoclonal and polyclonal antibodies), demonstrating that these translocations induce aberrant expr...