6 research outputs found
Secondary amyloidosis and cystic fibrosis. A morphological and histochemical study of five cases
The pathological findings of five cases of
amyloidosis associated with Cystic Fibrosis are reported.
Rectal biopsy led to the diagnosis of amyloidosis in
four patients. In three cases the diagnosis was confirmed
at autopsy , with involvement of spleen, liver, kidneys,
adrenal glands, thyroid and other organs.
It seems that Secondary Amyloidosis provokes a
significant, although rare, complication of Cystic
Fibrosis as greater numbers of these patients survive into
adulthood
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Data used in preliminary performance assessment of the Waste Isolation Pilot Plant (1990)
This report documents the data available as of August 1990 and used by the Performance Assessment Division of Sandia National Laboratories in its December 1990 preliminary performance assessment of the Waste Isolation Pilot Plant (WIPP). Parameter values are presented in table form for the geologic subsystem, engineered barriers, borehole flow properties, climate variability, and intrusion characteristics. Sources for the data and a brief discussion of each parameter are provided. 101 refs., 72 figs., 21 tabs
1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia
The identification of chromosome 1 translocations and deletions is a rare and poorly investigated event in chronic lymphocytic leukemia (CLL). Nevertheless, the identification of novel additional molecular alterations is of great interest, opening to new prognostic and therapeutic strategies for such heterogeneous hematological disease. We here describe a patient affected by CLL with a mutated IGHV status, showing a balanced t(1;3)(q23.1;q21.3) translocation and a der(18)t(1;18)(q24.2;p11.32), accompanying the recurrent 13q14 heterozygous deletion in all analyzed cells at onset. By combining whole-genome sequencing, SNP array, RNA sequencing, and FISH analyses, we defined a 1q23.1 biallelic minimally deleted region flanking translocations breakpoints at both derivative chromosome 1 homologues. The deletion resulted in the downregulation of the Fc receptor-like family genes FCRL1, FCRL2, and FCRL3 and in the lack of expression of FCRL5, observed by RT-qPCR. The mutational status of TP53, NOTCH1, SF3B1, MYD88, FBXW7, and XPO1 was investigated by targeted next-generation sequencing, detecting a frameshift deletion within NOTCH1 (c.7544_7545delCT). We hypothesize a loss of tumor suppressor function for FCRL genes, cooperating with NOTCH1 mutation and 13q14 genomic loss in our patient, both conferring a negative prognosis, independently from the known biological prognostic factors of CLL.This work was supported by the AIRC (Associazione Italiana per la Ricerca sul Cancro; AIRC IG No. 15413 for CTS)