Bririslr Joiirnul o / Uro/o,yj,(l976), 48, 442
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Short Case Report
Familial Profile of Transitional Cell Carcinoma brother of H. L. B., had painless hacniaturia i n June 1972. IVP showed a tilling defect in the right renal pelvis. Nephroureterectoniy with excision of a cull’ of bladder was done. The histopathology w a s transitionnl cell carcinoma. He was tunlour 1‘rec in the subsequent follow-up.
Transitional cell carcinoma was seen in 2 families in 2 generations, First Family I t occurred in a father and his only son (Fig. I). N. D. M., 83 years, male, was hospitalised in May 1969 with complaints of dysuria, frequency of urination and haematuria of 2 & months duration. IVP showed delayed excretion on right side and a filling defect on the right lateral wall of the bladder. Cystoscopy showed an extensive growth. The histopathology was transitional cell carcinoma grade 111. This patient was a smoker but not exposed to any of the known carcinogenic agents. L. D. M., 58 years, male, son of N. D. M., had an open transvesical excision of a bladder tuniour i n 1964. The histopathology was reported as grade 11, transitional cell carcinoma. This was irradiated, but he developed haematuria requiring transurethral resection 6 months later and again in February 1972. I n September 1973, histopathology showed poorly differentiated grade 111 transitional cell carcinoniawith squamous nietaplasia. His 3 childrenare alive and well.
Comment Fraumeni and Thomas (1967) reported on the familial clustering of transitional cell carcinoma. McCullough C r crl. (1975) went a step further and tried t o explain such an occurrence on a genetic basis. Although it might be a chance event, the mode of transmission in these 2 families appears to be consistent with autosomal dominant trait. In the first instance, the father and his son, whereas in the second family 2 brothers had this disease, implying that either the parents carried this mutation without expressing o r the mutation occurred in the germinal tissue of one of the parents.
Second Family
The transitional cell carcinoma was recorded in 2 brothers, whereas the other 2 brothers and 3 sisters were asymptomatic (Fig. 2). H. L. B., 53 years, male, presented in January 1972 as a case of painless haeniaturia of 2 months duration. An IVP showed a poorly functioning left kidney and a large filling defect in the left half of the bladder. The patient had transurethral resection and radiotherapy. The histopathology was grade I, transitional cell carcinoma. He had a recurrence in the first 6 months requiring TUR. later on he was recurrence free. M. L. B., 56 years, male, himself a doctor and
S. K . S H A R M AB.~ ,C. B A P N Aand ~ S. M. S I N G H ~ Depurtntmts of Urology, ~Postgrailiiate ltistitiite ( J / Medical Ediicution und Research, Cliuniligurlr, 2 All India Institrite of Medical Scierriw, N e w Dallii, Itttliu
References FRAUMENI, J . F. and THOMAS, L. B. (1967). Malignant bladder turnours in a nian and his three sons. Joirnrd of /lie Anrericuti Meclirnl Associution, 201, 507-509. MCCULLOUGH. D. L., LAMM,D. L., MCLAUGHLIN, A. P. and GITTtS, R. F. (1975). Familial transitional cell carcinoma of bladder. Joiirnul of’ Urology, 113, 629-635.
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I
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Fig. 2
442
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Short Case Report
Familial Profile of Transitional Cell Carcinoma brother of H. L. B., had painless hacniaturia i n June 1972. IVP showed a tilling defect in the right renal pelvis. Nephroureterectoniy with excision of a cull’ of bladder was done. The histopathology w a s transitionnl cell carcinoma. He was tunlour 1‘rec in the subsequent follow-up.
Transitional cell carcinoma was seen in 2 families in 2 generations, First Family I t occurred in a father and his only son (Fig. I). N. D. M., 83 years, male, was hospitalised in May 1969 with complaints of dysuria, frequency of urination and haematuria of 2 & months duration. IVP showed delayed excretion on right side and a filling defect on the right lateral wall of the bladder. Cystoscopy showed an extensive growth. The histopathology was transitional cell carcinoma grade 111. This patient was a smoker but not exposed to any of the known carcinogenic agents. L. D. M., 58 years, male, son of N. D. M., had an open transvesical excision of a bladder tuniour i n 1964. The histopathology was reported as grade 11, transitional cell carcinoma. This was irradiated, but he developed haematuria requiring transurethral resection 6 months later and again in February 1972. I n September 1973, histopathology showed poorly differentiated grade 111 transitional cell carcinoniawith squamous nietaplasia. His 3 childrenare alive and well.
Comment Fraumeni and Thomas (1967) reported on the familial clustering of transitional cell carcinoma. McCullough C r crl. (1975) went a step further and tried t o explain such an occurrence on a genetic basis. Although it might be a chance event, the mode of transmission in these 2 families appears to be consistent with autosomal dominant trait. In the first instance, the father and his son, whereas in the second family 2 brothers had this disease, implying that either the parents carried this mutation without expressing o r the mutation occurred in the germinal tissue of one of the parents.
Second Family
The transitional cell carcinoma was recorded in 2 brothers, whereas the other 2 brothers and 3 sisters were asymptomatic (Fig. 2). H. L. B., 53 years, male, presented in January 1972 as a case of painless haeniaturia of 2 months duration. An IVP showed a poorly functioning left kidney and a large filling defect in the left half of the bladder. The patient had transurethral resection and radiotherapy. The histopathology was grade I, transitional cell carcinoma. He had a recurrence in the first 6 months requiring TUR. later on he was recurrence free. M. L. B., 56 years, male, himself a doctor and
S. K . S H A R M AB.~ ,C. B A P N Aand ~ S. M. S I N G H ~ Depurtntmts of Urology, ~Postgrailiiate ltistitiite ( J / Medical Ediicution und Research, Cliuniligurlr, 2 All India Institrite of Medical Scierriw, N e w Dallii, Itttliu
References FRAUMENI, J . F. and THOMAS, L. B. (1967). Malignant bladder turnours in a nian and his three sons. Joirnrd of /lie Anrericuti Meclirnl Associution, 201, 507-509. MCCULLOUGH. D. L., LAMM,D. L., MCLAUGHLIN, A. P. and GITTtS, R. F. (1975). Familial transitional cell carcinoma of bladder. Joiirnul of’ Urology, 113, 629-635.
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+ Fig. I
Fig. 2
442
