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Biomedical subjects

J F Lynch

Publications and source records attributed to J F Lynch.

At least 145 records · Page 8Linked to original sources

Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma.

A familial cancer aggregation comprising sarcomas, brain tumors, leukemias, and carcinomas of breast, larynx, lung, adrenal, cortex, and other sites has been studied from a pathologic--genetic standpoint. Based upon sibships segregating for cancer, the genetic segregation parameter is estimated to be 45.6 +/- 11% which is compatible with that expected for a rare deleterious autosomal gene showing complete dominance. Pathologic review of 16 tumors by bright field microscopy revealed variable occurrences of intranuclear cytoplasmic invaginations, intranucleolar bodies, and acidophilic intracytoplasmic inclusions in eight lesions. Two tumors showed both intranuclear cytoplasmic invaginations and intranucleolar inclusions. Morphological findings coupled with the observed pattern and distribution of cancer in the subject kindred suggest that the cancer-prone genotype interacts with one or more exogenous factors in causing this familial tumor association.

Adolescent↗

Multiple primary cancers and prolonged survival: familial colonic and endometrial cancers.

We describe features of multiple cancers in a small kindred wherein a cluster of tumors affecting various anatomic sites has been observed among eight directline relatives. Three of these individuals have had two or more primary malignancies, and one woman showed a remarkable tolerance to invasive cancer, having had four histologically verified neoplasms (cancers of the ovary, endometrium, and colon, and myelogenous leukemia). The constellation of tumors occurring at an early age among relatives of the kindred supports a genetic etiology.

Adenocarcinoma↗

Familial atypical multiple mole-melanoma syndrome.

A family is described showing concordance for malignant melanoma and a cutaneous phenotype characterised by multiple large moles of variable size and colour (reddish-brown to bright red) with pigmentary leakage. Transmission of the cutaneous phenotype in the subject family, and in several others currently under investigation, shows an inheritance pattern consistent with a simple autosomal dominant factor. This cutaneous phenotype signifying melanoma risk may now be added to an increasing body of knowledge dealing with cancer-related genodermatoses.

Adult↗

Spontaneous regression of metastatic malignant melanoma in 2 sibs with xeroderma pigmentosum.

The clinical and pathology findings in 2 sibs with xeroderma pigmentosum (XDP), complicated by metastatic malignant melanoma which underwent spontaneous regression, are described. The pathology of one of these patients showed features of possible spontaneous regression, namely foamy histiocytes, capillary proliferation, and a chronic inflammatory infiltrate which was devoid of malignant cells, suggesting the possibility that an immunological mechanism was at work. It was of interest that a recent review of 27 cases of spontaneous regression of metastatic melanoma since 1900 contained a patient with XDP. Adding our 2 cases, at least 10% of the spontaneous regressions of metastatic melanoma occurred in patients with XDP. This unusual association raised the question that the genotype for XDP may possibly foster control of metastatic malignant melanoma in some as yet unknown way.

Adult↗

Familial cancer: implications for surgical management of high-risk patients.

Knowledge of familial/genetic information about cancer risk involving at least 100 disorders could be utilized profitably by surgeons in their daily practice. Familial cancer of the breast, ovary, and colon, malignant melanoma, and testicular feminization syndrome, and masculinizing Turner's syndrome are discussed. Biological markers, an area of emerging research interest, have been considered for their cancer control potential. Prophylactic surgical implications for certain familial cancer have been given.

Androgen-Insensitivity Syndrome↗

Plasma hormone profiles of young women at risk for familial breast cancer.

The plasma hormone concentrations of 30 young women, who were judged by genetic analysis to be at high risk for familial breast cancer, were compared with those of 30 matched controls identified as at low risk for the disease. The hormone measurements were obtained every second day throughout the menstrual cycle, and the results were analyzed in terms of follicular, luteal, and full-cycle mean concentrations. Comparison was carried out in a paired fashion with each high-risk and low-risk pair matched closely for height, weight, age, and reproductive history. No statistically significant differences were found in prolactin, gonadotropin, estrone, estradiol, or estriol plasma concentrations although the high-risk group displayed consistently lower values in all of the above except estriol.

Adult↗

Management of hereditary site-specific colon cancer.

A family with site-specific colon cancer and discrete adenomatous colon polyps in certain members has provided a prototype for the study and clinical management of hereditary cancer. Analysis of this kindred showed an autosomal dominant mode of inheritance, early onset of cancer with predilection for the right colon, and frequent extraprimary cancers of the colon. Knowledge of these phenomena are critical to the management of this hereditary cancer syndrome. On our recommendation, two brothers of the family who were treated for colon cancer by hemicolectomy underwent prophylactic total colectomy. The resected colon from one of these patients had an occult adenocarcinoma in a villoglandular polyp.

Adult↗

Familial cancer syndromes: a survey.

Several pre-malignant diseases are known to have a genetic etiology. This study focuses attention upon precancerous disorders wherein the mode of inheritance is either well established or wherein it remains unclear even though familial aggregation of the particular diseases have been amply documented. These conditions will be discussed as useful models for systematic investigations of the host etiologic component in carcinogenesis. Our survey of hereditary precancerous syndromes includes multiple polyposis of the coli, the multiple mucosal neuroma syndrome, the Cancer Family Syndrome, Sipple's syndrome, Von Recklinghausen's neurofibromatosus, the multiple nevoid basal cell carcinoma syndrome, tuberous sclerosis, familial cutaneous malignant melanoma, and carcinoma of the breast. We have emphasized the heterogeneous character of many forms of familial cancer. Familial breast cancer associations clearly show such heterogeneity, as do colon cancer syndromes. Certain of these precancerous states are characterized by phenotypes which are clinically apparent, polyposis coli being the classic example. Others, such as Sipple's syndrome are amenable to routine screening for biochemical markers. The bulk of putative genetic cancer-predisposing problems require further basic investigation of modes of inheritance. Cancer control may be enhanced through communication of useful genetic and diagnostic information to primary care physicians. Referral of cancer clusters of possible genetic etiology from clinicians to human geneticists facilitates the necessary basic research.

Adolescent↗

Role of heredity in multiple primary cancer.

The occurrence of multiple primary malignant neoplasms characterizes virtually all varieties of hereditary cancer. This report focuses on this phenomenon in 11 families with the Cancer Family Syndrome (heritable adenocarcinomas of the colon and endometrium) and a single extended kindred with site-specific colon cancer. Of the 316 relatives with cancer in the 12 families, 68 (21.5%) had two or more primary malignancies and 59 (86.8%) of these multiple primaries involved the colon and/or endometrium. A pooled analysis of this resource revealed a consistent 3% risk for a second primary cancer in each year of survival following first onset. If a second primary occurs, the risk for a third is extremely high (6.9% per year), but shows a nonlinear trend with increasing survival following second onset. The high risk for development of extraprimary malignancies in patients from these kindreds indicates that careful consideration should be given to total removal of their principal target organs following the initial manifestation of cancer.

Adenocarcinoma↗

The surgeon, genetics, and cancer control: the Cancer Family Syndrome.

A family manifesting the Cancer Family Syndrome has been evaluated extensively from the medical and genetic standpoint. Findings of excess occurrence of carcinoma of the colon and endometrium, multiple primary cancer, early age of onset, and autosomal dominant mode of genetic transmission mandate a program of increased surveillance and cancer education. Prophylactic surgical implications are provided for certain of these enormously high cancer risk patients.

Adult↗

Cancer control in xeroderma pigmentosum.

This study of identical twins affected with xeroderma pigmentosum, with follow-up and re-evaluation after a period of eight years, is unique in that it demonstrates clearly the value of cancer control methods, primarily the avoidance of solar radiation. The findings in the identical twins have been evaluated in context with their other affected siblings who also have shown a remarkable low rate of skin cancer upon initiation of cancer control (solar radiation avoidance).

4-Aminobenzoic Acid↗

Familial Hodgkin's disease and associated cancer. A clinical-pathologic study.

The etiology of Hodgkin's disease is complex, as is evident in studies suggesting the importance of horizontal transmission, occupational factors, racial and ethnic background, and familial, genetic factors, or both, including HL-A associations. The present study is of a remarkable kindred in which Hodgkin's disease was histologically verified in two sibships involving second-cousins related through maternal great-grandparents. Cancer of the lung, breast, endometrium, ovary, pancreas, and brain, as well as leukemia and Wilms' tumor, occurred in first and second-degree relatives of the Hodgkin's patients. HL-A haplotypes in patients with Hodgkin's disease in this family showed HL-AB5 or HL-ABW35, an association confirmed in other reports. The findings of associated malignant neoplasms in familial Hodgkin's disease, here and elsewhere in the literature, suggest that in the quest for etiology of Hodgkin's disease one must view the disorder eclectically, with a painstaking search for multiple etiologies, genetic and environmental.

Adult↗

Survival data from a multiphasic mobile cancer detection unit.

Individuals with early cancer rarely have symptoms, through it is at this state that the best prognosis can be afforded. 22 out of 5,232-patients screened in a Mobile Cancer Detection Unit (MCDU) received cancer diagnosis (exclusive of skin cancer). These patients have enjoyed much greater survival than expected. For instance, only three have died versus and expected 7.5. Calculations show that if all cancer patients in the United States had a similar increase in survival, then the lives of at least 120,000-persons could be extended each year. These limited data must be interpreted cautiously. Nevertheless, they do hold promise since only a few percentage points increase in survival when measured against the full impact of the cancer problem will show significant patient benefit.

Adolescent↗