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Neuroblastoma and Pheochromocytoma ALFRED G Amer J Hum Genet 24:514-532, 1972 Mutation and Cancer: Neuroblastoma and Pheochromocytoma ALFRED G. KNUDSON, JR.1 2 and LouISE C. STRONG' 3 A recent study of retinoblastoma [1] led to the conclusion that the occurrence of that tumor fits a two-mutation model. According to that model a fraction, fn, of all cases is nonhereditary and results from two somatic mutational events in one cell which is thereby transformed into a tumor cell, which, in turn, becomes a solitary primary tumor. The remaining fraction of cases, f7,, is hereditary and arises in indi- viduals who are predisposed to the tumor because they have inherited one of the mutational events, the second event occurring in one or more somatic cells; such individuals may develop one tumor, more than one, or none at all. These predisposed individuals most frequently acquire the first event as a fresh dominant mutation which has arisen in a parental germinal cell. They may present a family history of the tumor, they develop tumors earlier than do nonhereditary cases, and they may develop multiple tumors. In this report, we present an analysis of familial incidence, multiplicity, and age at diagnosis for two sympathetic-nervous-system tumors, neuroblastoma and pheochromocytoma, which reveals that these tumors also fit the two-mutation model. ANALYSIS OF DATA Neuroblastoma A starting point for the study was a review of the 60 cases of neuroblastoma seen at M. D. Anderson Hospital and Tumor Institute (MDAH) during the period 1944-1970. Two familial cases and three multiple primary cases were observed. These data were too few for analysis, so a literature review of the accumulated experience was undertaken. Points of special interest in the review were age at diagnosis, sex, multiplicity of tumors, and family incidence. In table 1 are presented the distribution of ages at diagnosis from a large series [2] of unselected cases. The largest group of cases (26%) occurs in the first year of life, following which the incidence tapers off, with 19% of cases coming after the age of 5 years. By contrast, familial cases [3-14] are clustered even more closely Received September 3, 1971: revised January 31, 1972. This work was supported in part by Public Health Service Training grant 5-TO-1-MH 12224 (to LCS) from the National Institute of Mental Health. 1 Graduate School of Biomedical Sciences, University of Texas at Houston, Houston, Texas 77025. 2M. D. Anderson Hospital and Tumor Institute, University of Texas at Houston, Houston, Texas 77025. 3 Texas Research Institute of Mental Sciences, Houston, Texas 77025. o 1972 by the American Society of Human Genetics. All rights reserved. 514 NEUROBLASTOMA AND PHEOCHROMOCYTOMA 515 TABLE 1 NEUROBLASTOMA: SEX AND AGE AT DIAGNOSIS FOR UNSELECTED AND FAMILIAL CASES UNSELECTED CASES* FAMILIAL CASESt AGE AT DIAGNOSIS Accumulated Accumulated (YEARS) N (%) N (%) 0-1 .......................... 130 26 14 56 1-2 .......................... 89 43 4 72 2-3 .......................... 74 58 4 88 3-4 .......................... 69 72 1 92 4-5 .......................... 48 81 1 96 5-6 .......................... 30 87 6-7 ....................... ... 16 90 ... ... 7-8 ....................... ... 8 92 ... ... 8-9 ....................... ... 13 95 ... ... 9-10 ......................... 4 96 ... ... >10 ......................... 23 ... 1 Total ...................... 504 ... 25 * [2]; N: male, 289 (57%); female, 215 (43%). t See table 2; N: male, 11; female, 14. in the early years (table 2), with 56% occurring by the end of the first year, and 4% after 5 years. The age at diagnosis is clearly much earlier in familial cases. Another difference between unselected and familial cases is that, while multiple cases constitute approximately 5%o of all neuroblastoma ([15], three of 60 cases from MDAH), they comprise 23%o of familial cases (table 2: five of 22 cases in which data are provided). An expected concomitant is that multiple tumor cases will occur earlier in life. Unfortunately, we do not have as much evidence on this point as needed. Most reports of large series do not provide this information. Those reports which do provide it are few in number and obviously biased toward the more spectacular phenomenon of congenital neuroblastoma. However, that interest- ing phenomenon itself provides the illuminating data that in 15%'o of 40 congenital cases both adrenal glands were involved [16]. According to the two-mutation model, all multiple tumor cases are hereditary. For retinoblastoma, this is borne out by the fact that 50%o of the offspring of surviving cases are affected [1]. For neuroblastoma, there is little evidence bearing directly upon this point, although there are three instances in which there may have been an affected parent [6, 10, 14]. In the family of Zimmerman [6], the father had a mediastinal ganglioneuroma removed at the age of 10 years. In the family reported by Chatten and Voorhess [10], the mother had elevated urinary catecholamines, as did the father in the family reported by Wong and his col- leagues [14]. A prediction of the model is that 50%o of the offspring of multiple tumor cases would be predisposed gene carriers. The probability that a gene carrier will develop neuroblastoma, i.e., the pene- trance, can be estimated by treatment of the solitary and multiple cases as a TABLE 2 NEUROBLASTOMA: FAMILIAL CASES PRIMARY SITES Adrenal AGE AT Sympa- REFERENCE DIAGNOSIS RELATION- No. thetic AND CASE No. (YEARS) SEX SHIP TUMORS Single Bilateral Chain [3]: 1 ............ 2 / F Proband 1 + ... *. 2 ............ NS F Sib NS ~~~~~~... .. ... [4]: 3 ............ 13 M Proband 1 + ... *. 4 ............ NS NS Sib NS ........ [5]: + 5 ............ 4 F Proband 1 .. 6 ............ 7/12 M Sib 1 + ... ..... [6]: 7* ........... 29412 M Proband 3 .. - + + 8 ............ 3/12 F Half-sib >2 . .. + .. [7]: 9 ............ 4/12 M Proband 1 + ... ..... 10 ............ 4/12 M Identical 1 + ... ..... twin [8]: 11 ............ NS NS Proband NS 12 ............ NS NS Identical NS twin [9]: 13 ............ 92 F Proband 1 14 ............ "A/12 F Identical I twin [10]: 15t ........... 1/12 M Proband 1 . .. 16 ........... 13/2 F Sib 3 + + .. 17 ........... 4/12 F Sib 4 + +(2) .. 18 ........... 5/12 F Sib 1 *.* + [11]: 19 ........... birth M Proband 1 + 20 ........... 1 M Sib 1 *. + 21 ........... 2 F Sib NS .. [12]: 22T ........... 42 F Proband 1 + 23 ........... birth F Sib 1 [13]: 24 ........... 13 days M Proband NS 25 ............ 1i2 M Identical NS twin NOTE.-NS = not stated. * One parent abnormal: father had mediastinal ganglioneuroma removed at age 10 years. t One parent abnormal: mother had markedly elevated urinary catecholamines but no demonstrable tumor. $ During the course of the family study, a 15-year-old sister was discovered to have elevated urinary cate- cholamines and a calcified adrenal. 516 NEUROBLASTOMA AND PHEOCHROMOCYTOMA 517 TABLE 2 (Continued) NEUROBLASTOMA: FAMILIAL CASES PRIMARY SITES AGE AT Adrenal Sympa- REFERENCE DIAGNOSIS RELATION- No. thetic AND CASE No. (YEARS) SEX S}IP TUMORS Single Bilateral Chain [14]: 26§ ........... 2 NS Proband 3 + ... ±(2) 27 ........... 52 F Sib 1 + ... ... Present report: 28 .......... 2 M Proband 1 + ... ... 29 .......... 3Y,2 F 2d cousin 1 + ... ... § One parent abnormal: father had significantly elevated urinary catecholamines but no demonstrable tumor. Poisson distribution. Thus, for a Poisson mean (m) of 1.0, the fraction of unaf- fected carriers (e-m) would be 0.37, that of gene carriers with one tumor (me-rn) would be 0.37, and that of multiple tumor cases would be the remainder, 0.26. Among those with any tumor (0.63), multiple cases (0.26) would constitute 41%. However, two tumors might occur at just one site, e.g., one adrenal gland. If only affected sites are counted and if just two sites are available, as with paired organs, then an expectation may be calculated (table 3) in which the fraction affected TABLE 3 EXPECTED DISTRIBUTIONS OF ADRENAL NEUROBLASTOMAS FOR A MEAN NUMBER (m) OF UNITY EXPECTED FREQUENCY TOTAL TUMORS POISSON FRACTION BOTH ADRENALS PROBABILITY UNILATERAL (r) (mre-m/r! ) [2(1/2)1] None Unilateral Bilateral 0 ................... 0.368 ... 0.368 1 ................... 0.368 1 ... 0.368 2 ................... 0.184 M ... 0.092 0.092 3 ................... 0.061 Y4 ... 0.015 0.046 4 ................... 0.015 1/8 ... 0.002 0.013 5 ................... 0.003 146 ... ... 0.003 Totals ............ 0.999 ... 0.368 0.477 0.154 unilaterally is 0.48 and that affected bilaterally is 0.15; and, among affected in- dividuals, bilateral cases are 24%o of the total. For neuroblastoma, the fraction of multiple cases among gene carriers is difficult to estimate. No cases are reported of two primaries at one site, but this may simply reflect failure of reporting. In ad- dition, the fraction of multiple cases is probably underestimated. It may be, there- 518 KNUDSON AND STRONG fore, that the observation of 23%o multiple tumors among familial cases is compatible with a Poisson mean of unity. If so, gene carriers would be affected 63 % of the time, and, among the offspring of bilateral cases, about 32% should be affected. The fraction of hereditary cases, fh, may be estimated by assuming that all mul- tiple cases are hereditary. If 5% of all cases are multiple and if 23%'o of familial cases are multiple, 0.23 f1 - 0.05, and fh 0.22 (i.e., 22%o of all cases of neuro- blastoma occur in gene carriers). Of course, nearly all of these cases have resulted from new germinal mutations. The incidental calculation can be made that, if 15% of congenital cases are multiple, then approximately 68%o of congenital cases are hereditary. The germinal mutation rate (jig) necessary to produce these gene carriers may be calculated from a knowledge of the incidence of neuroblastoma (i), the heredi- tary fraction (fh), the mean number of tumors (m), and the coefficient of selec- tion (s).
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