Translocation (2;4)(p23;q25) An additional case of a new recurrent anomaly in acute myeloid leukemia

A second case of acute myeloid leukemia (AML) with a t(2;4)(p23;q25) as the sole anomaly is reported. Our case had a de novo AML (M2); the case previously described had AML (M2) post-MDS. It is suggested that t(2;4)(p23;q25) is a new, recurrent, but rare anomaly in AML.     

Cytogenetics in multiple myeloma and plasma cell leukemia: simultaneous cytogenetic and cytologic studies in 51 patients

Summary Cytogenetic studies in patients with multiple myeloma (MM) and plasma cell leukemia (PCL) have in general been largely unsuccessful. The investigation of mitoses of nonmalignant hematopoietic precursor cells, rather than mitoses of malignant plasma cells might account for the low percentage of pathological genetic findings. We investigated bone marrow (BM) cells of 51 patients both cytogenetically and cytologically. In patients with a normal karyotype (n=39) nearly all mitoses examined cytologically (107/117) derived from granulopoietic or erythropoietic cell lineages. In contrast, 20/27 metaphases in patients with a pathological karyotype (n=12) were found to be plasma cell mitoses. These findings may explain the low rate of chromosomal rearrangements in MM and may suggest that the real abnormality rate is considerably higher.     

Advanced gastric cancer: a new combined surgical and oncological approach

Forty-two patients with advanced gastric carcinoma underwent chemotherapy in accordance with the FAMTX protocol. Complete tumor remission was achieved in 7%, and partial remission in 29% of the patients. In this group 6 patients (tumor stage: T3-4, N 2-3, M X-1) underwent a second-look operation after chemotherapy either to confirm the complete remission or the resect the remaining tumor mass. The mean follow-up time of these 6 patients is 22 (8-55) months; 4 are still in complete remission 8 to 55 months after the first operation. It is concluded that even in advanced stages of gastric carcinomas a more aggressive approach involving a combination of surgical and chemotherapeutic treatment improves the survival time of these patients.     

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Peters plus syndrome (PPS) is a rare autosomal‐recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report, we describe screening of 64 patients affected with PPS, isolated Peters anomaly and PPS‐like phenotypes. Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic PPS and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. A total of nine different pathogenic alleles were identified. Five alleles are novel including one frameshift, c.168dupA, p.(Gly57Argfs*11), one nonsense, c.1234C>T, p.(Arg412*), two missense, c.1045G>A, p.(Asp349Asn) and c.1181G>A, p.(Gly394Glu), and one splicing, c.347+5G>T, mutations. Consistent with previous reports, the c.660+1G>A mutation was the most common mutation identified, seen in eight of the nine patients and accounting for 55% of pathogenic alleles in this study and 69% of all reported pathogenic alleles; while two patients were homozygous for this mutation, the majority had a second rare pathogenic allele. We also report the absence of B3GALTL mutations in 55 cases of PPS‐like phenotypes or isolated Peters anomaly, further establishing the strong association of B3GALTL mutations with classic PPS only.     

Axillary Hodgkin's disease in manual workers.

Between 1965 and 1974, 16 patients were clinically staged as having unique axillary localizations of Hodgkin's disease. Sex ratio (4.3), mean age (40.8 years) and professional occupations (12 out of the 16 patients were engaged in manual work) were significantly different from that of all patients observed during the same period. These facts lead us to suppose the existence of a link between manual work and initial axillary localizations.     

Cranberry Polyphenols in Esophageal Cancer Inhibition: New Insights

Esophageal adenocarcinoma (EAC) is a cancer characterized by rapidly rising incidence and poor survival, resulting in the need for new prevention and treatment options. We utilized two cranberry polyphenol extracts, one proanthocyanidin enriched (C-PAC) and a combination of anthocyanins, flavonoids, and glycosides (AFG) to assess inhibitory mechanisms utilizing premalignant Barrett’s esophagus (BE) and EAC derived cell lines. We employed reverse phase protein arrays (RPPA) and Western blots to examine cancer-associated pathways and specific signaling cascades modulated by C-PAC or AFG. Viability results show that C-PAC is more potent than AFG at inducing cell death in BE and EAC cell lines. Based on the RPPA results, C-PAC significantly modulated 37 and 69 proteins in JH-EsoAd1 (JHAD1) and OE19 EAC cells, respectively. AFG treatment significantly altered 49 proteins in both JHAD1 and OE19 cells. Bioinformatic analysis of RPPA results revealed many previously unidentified pathways as modulated by cranberry polyphenols including NOTCH signaling, immune response, and epithelial to mesenchymal transition. Collectively, these results provide new insight regarding mechanisms by which cranberry polyphenols exert cancer inhibitory effects targeting EAC, with implications for potential use of cranberry constituents as cancer preventive agents.     

Weekly high-dose 5-fluorouracil and folinic acid as salvage treatment in advanced gastric cancer

BACKGROUND: A weekly schedule of a 24-h high-dose 5-FU infusion in combinationwith folinic acid was investigated as salvage therapy in patientswith advanced gastric cancer. PATIENTS AND METHODS: Seventeen patients with progressive disease after chemotherapywere treated with a weekly schedule of 500 mg folinic acid/sqmby i.v. 2-h infusion followed by an i.v. 24-h infusion of 2.6g 5-FU/sqm times six. Fourteen of the 17 patients (82%) hadbeen pretreated in regimens which included 5-FU/folinic acidi.v. bolus. RESULTS: Toxicity was mild, with diarrhea, mucositis and nausea; WHOgrade m/IV diarrhea was observed in only two patients. Threepatients achieved partial remissions (18%; 95% confidence interval:0%–38%) and 7 patients stable disease (41%; 95% confidenceinterval: 17%–64%). Their median survival time was fivemonths (range 1.5–10 months) after the onset of salvagetherapy. CONCLUSIONS: This schedule of weekly 24-h infusions of high-dose 5-FU andfolinic acid is effective, even in patients pretreated withor resistant to regimens including 5-FU/folinic acid i.v. bolus.Based on these data, it appears that this schedule of high-dose5-FU/folinic acid in first-line combination chemotherapy meritsinvestigation. 5-fluorouracil, folinic acid, gastric cancer, salvage therapy     

Functional analysis of the cervical spine in healthy persons

Radiograms were taken of subjects with no symptoms of cervical spine problems; the cervical spine was evaluated in the spontaneous posture and at maximal flexion and extension. The position and movement of the vertebra, intervertebral height and gliding were calculated. The results showed that (1) lordosis in women occurred less pronounced than in men, and that there was an increase with age; (2) C 2-3 was the least flexible segment and motility increased in the caudal direction; mobility decreased with age and the segments of the lower cervical spine with the highest mobility decreased the most; (3) all posterior and ventral intervertebral heights showed a decrease with age at C 5-6 and C 6-7; (4) vertebral gliding decreased with age.