Chromosomal aberrations and neoplasm—a family study

✍ Scribed by Dr. Doris H. Wurster-Hill; Gibbons G. Cornwell III; O. Ross McIntyre

• Publisher: John Wiley and Sons
• Year: 1974
• Tongue: English
• Weight: 925 KB
• Volume: 33
• Category: Article
• ISSN: 0008-543X
• DOI: 10.1002/1097-0142(197401)33:1<72::aid-cncr2820330114>3.0.co;2-8

✦ Synopsis

A family is described in which four out of five siblings have chromosomal aberrations both in the myeloid and lymphoid cells. One of these died in the blastic phase of chronic myelogenous leukemia, another had myelofibrosis and carcinoma of the breast, a third had squamous cell carcinoma of the lip, and the other two siblings are normal. The mother had carcinoma of the breast. Two of the siblings have had occupational exposure to organic solvents. The relationship of genetic predisposition to malignancy, chromosomal instability, and environmental stresses is discussed.

VARIETY OF CHROMOSOMAL DEFECTS HAS A been described in patients with neoplastic disease.12 This report describes a family of five siblings, four of whom (LS, IW, RT, BB) had chromosomal aberrations both in the myeloid and lymphoid cells. One myeloid defect, a C group deletion, was present in three of these siblings (LS, IW, RT). One patient (LS) had Philadelphia chromosome negative chronic myelogenous leukemia and died in blastic phase. Another had myelofibrosis and carcinoma of the breast (IW). A third (RT) had squamous cell carcinoma of the lip and has minor abnormalities of the bone marrow. T h e other two siblings (WT, BB) are normal. T h e mother (AT) had a carcinoma of the breast discovered at age 68.

CASE REPORTS

LS was a 37-year-old woman who presented to her physician in January, 1971 with a 3-week history of severe headaches, fatigue, and shortness of breath. There was n o signi-