Weight gain during adjuvant chemotherapy for breast cancer

Summary Weight gain during adjuvant chemotherapy has been reported by several authors. Because increased body weight at diagnosis is associated with an increased risk of disease recurrence, we have assessed the prevalence of weight gain in a series of patients receiving adjuvant treatment, as well as the association of weight gain with type of treatment and risk of recurrence. We first assembled an inception cohort of 237 patients who had all undergone pretreatment evaluation and treatment at one institution, and had already been followed for at least 12 months. Body weight at the start and completion of treatment was recorded, as was type of treatment and status at last followup. Ninety-six percent of patients gained weight during treatment and none lost weight (mean increase 4.3 kg). Weight gain was strongly associated with treatment, and was least in patients receiving single agent chemotherapy, greatest in patients treated with ovarian ablation and prednisone, and intermediate in those receiving combination chemotherapy. There was no association between weight gain and disease recurrence.Supported in part by the Institute of Medical Sciences, University of Toronto, and the National Cancer Institute of Canada.     

Assessment of prostatism: role of intravenous urography

A prospective study of 502 patients referred for assessment of symptoms of bladder outlet obstruction was performed to determine the value of routine intravenous urography (IVU). The purpose was to establish the rate at which significant occult abnormality in the upper urinary tract is detected with IVU alone; to determine to what extent these abnormalities can be predicted from routine clinical and laboratory evaluation, thus allowing better patient selection for IVU; and to recommend alternative imaging modalities. History, physical examination, and routine laboratory studies constituted the preliminary examination. Abnormalities were found in 23% of patients but significant conditions in only 10%. Occult significant abnormalities that would have been missed without IVU occurred in only 1.5% of patients. Most of these could be detected on an abdominal radiograph. Only one malignancy would have been missed without routine IVU. The authors conclude that IVU in the assessment of prostatism should be limited to patients with positive findings in the clinical work-up. An abdominal radiograph is recommended in the others. Significant cost savings can thus be achieved.     

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups. Most NF1 patients have private loss‐of‐function mutations scattered along the NF1 gene. Here, we present an original NF1 investigation strategy and report a comprehensive mutation analysis of 565 unrelated patients from the NF‐France Network. A NF1 mutation was identified in 546 of the 565 patients, giving a mutation detection rate of 97%. The combined cDNA/DNA approach showed that a significant proportion of NF1 missense mutations (30%) were deleterious by affecting pre‐mRNA splicing. Multiplex ligation‐dependent probe amplification allowed the identification of restricted rearrangements that would have been missed if only sequencing or microsatellite analysis had been performed. In four unrelated families, we identified two distinct NF1 mutations within the same family. This fortuitous association points out the need to perform an exhaustive NF1 screening in the case of molecular discordant‐related patients. A genotype–phenotype study was performed in patients harboring a truncating (N = 368), in‐frame splicing (N = 36), or missense (N = 35) mutation. The association analysis of these mutation types with 12 common NF1 clinical features confirmed a weak contribution of the allelic heterogeneity of the NF1 mutation to the NF1 variable expressivity.     

Pulmonary hamartoma: diagnosis by transthoracic needle-aspiration biopsy

Hamartomas of the lung often present as asymptomatic, noncharacteristic masses that can seldom be differentiated from other lung masses such as primary cancer or metastases by conventional radiography. Transthoracic needle-aspiration biopsy (TNAB) has become a popular and reliable method for the diagnosis of a lung lesion, and it offers a valuable alternative to diagnostic thoracotomy. In our study, TNAB established the diagnosis of pulmonary hamartoma in 12 of 14 (86%) patients. In eight patients, one procedure (using one to three punctures) was sufficient to establish the diagnosis, and, in four patients, two procedures (using one to two punctures) were necessary. In two patients, the lesion was missed on second and/or third biopsy procedures, and the correct diagnosis was obtained at surgery. Cytologic examination of the material was diagnostic in five of the 14 patients. Tissue specimens were sent in 13/14 patients, and findings of histologic examination established the correct diagnosis in 11 of these patients. One of the 12 patients in whom hamartoma was correctly diagnosed by TNAB underwent resection of his lesion, and histologic examination confirmed the diagnosis. In the remaining 11 patients, the lesions have been stable on follow-up chest examinations.     

Prostatic hyperplasia: radiological intervention. Work in progress

Benign prostatic hypertrophy is the most common cause for urethral obstruction in males over 50 years of age. Interventional radiologic dilatation under fluoroscopic control offers a nonoperative alternative for treatment of prostatic hyperplasia. Cadaver studies with the use of arteriographic balloon catheters indicated that manual injection pressure provides effective dilatation of the prostatic urethra. Evaluation of symptom relief will have to await patient studies.     

The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene

Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic meningioma. We surveyed the distributions of constitutional NF2 mutations in 823 NF2 families, 278 somatic NF2 mutations in USVS, and 208 somatic NF2 mutations in sporadic meningioma. Based on the available NF2 mutation data, the most dominant influence on the spectra of mutations in exons 1-15 are C>T transitions that change arginine codons (CGA) to stop codons (TGA) due to spontaneous deamination of methylcytosine to thymine in CpG dinucleotides. The paucity of reported mutations in exon 9 and the absence of reported mutations in exons 16 and 17 may be related to structure-function relationships in the NF2 protein.