Renal tumors in young adults.

PURPOSE: The clinical and pathological features of solid or complex cystic renal masses in young adults have not been defined. We present our experience with patients 17 to 45 years old with such renal masses to define the incidence of malignant vs benign lesions, familial tendencies and clinical outcomes. MATERIALS AND METHODS: The medical records of all patients 17 to 45 years old who presented with a solid or suspicious complex cystic renal mass at 2 tertiary care hospitals between 1988 and 2002 were retrospectively reviewed. Pertinent clinical information was compiled, including age, gender, mode of presentation, renal function, year and type of surgery, pathological analysis and survival data. RESULTS: There were 114 evaluable patients who underwent a total of 119 nephrectomies. Mean patient age was 37.1 years and males comprised 56.1% of the population. Twelve patients had familial renal cell carcinoma (RCC), the von Hippel-Lindau syndrome. Mode of presentation for patients with sporadic disease was symptomatic (55.9%), incidental (35.3%) or unknown (8.8%). Radical nephrectomy, partial nephrectomy and nephroureterectomy were performed in 80 kidneys (67.2%), 37 (31.1%) and 2 (1.7%), respectively. Malignant lesions comprised 79.8% of all masses and 95.8% of these were renal cell carcinoma. Of the RCCs 75.8% were grade 1 or 2 and 89% were organ confined. Young women were much more likely than men to have a benign lesion (36.0% vs 9.5%, p <0.01) and the diversity of histologies was impressive (of the 24 total benign masses 9 were different tumor types). With an average followup of 38.3 months overall survival is 90.2%. Among patients with RCC 84.9% are alive and cancer-free, 11.6% are dead from disease and 3.5% are alive with recurrent disease. CONCLUSIONS: We report the largest known series of solid or suspicious complex renal masses in young adults. As expected, familial tumors are more common in this population. While RCC is the most common tumor, a wide variety of potential pathological outcomes are possible, particularly in women, who were much more likely to have a benign lesion. RCC in this patient population appears to have a favorable prognosis, despite symptomatic presentation in the majority of cases.

Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

Proximal symphalangism, or Cushing symphalangism (MIM 185800), is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints. Conductive deafness and reduced flexibility of the ankles have also been observed in affected individuals. We have used polymorphic markers throughout the genome to perform genetic linkage analysis in subsequent generations of the family originally described by Harvey Cushing. We have established linkage for this disorder to markers on chromosome 17 (17q21-q22), with Zmax = 6.98 at theta = 0.05 with marker D17S790.

The detection of local recurrence after definitive irradiation for early stage carcinoma of the breast. An analysis of the results of breast biopsies performed in previously irradiated breasts.

One hundred forty-five breast biopsies were performed in 139 treated breasts to evaluate for potential recurrent carcinoma of the breast in women previously treated with definitive breast irradiation for early stage carcinoma of the breast. One hundred thirty-four patients had undergone one breast biopsy, four patients had undergone two breast biopsies, and one patient had undergone three breast biopsies. The median interval from completion of definitive irradiation to breast biopsy was 28 months (range, 2 to 117 months). Of the 145 breast biopsies, 52% (76 of 145) were positive, and 48% (69 of 145) were negative. The positive biopsy rate was related to the type of biopsy, the location of the biopsy, and the findings on physical examination and mammography. In patients with a negative physical examination but mammographic findings of a mass, microcalcifications, or both, the positive biopsy rate was 66% (25 of 38). For patients with a mass on physical examination but a negative mammogram, the positive biopsy rate was 28% (nine of 32). For patients with a mass on physical examination and a positive mammogram, the positive biopsy rate was 72% (13 of 18). For patients undergoing an incisional or Tru-Cut (Travenol Laboratories, Deerfield, IL) needle biopsy, the positive biopsy rates were 94% (15 of 16) and 75% (three of four), respectively, whereas the positive biopsy rate for an aspiration cytology was 25% (five of 20). Of the 76 positive biopsies, 64% (49 of 76) were from an in field or marginal location. The rate of detection of a subsequent local recurrence after an initial negative biopsy was 5% (three of 66). Of the evaluable patients, the complication rate was 9% (seven of 81). This study has documented the results of breast biopsies after definitive irradiation for early stage carcinoma of the breast.