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Chromosomal Breakage and Acute Leukemia in Congenital Telangiectatic Erythema and Stunted Growth
- ARTHUR SAWITSKY, M.D.;
- DAVID BLOOM, M.D.; and
- JAMES GERMAN, M.D., F.A.C.P.
- Requests for reprints should be addressed to Arthur Sawitsky, M.D., Hematology Research Laboratory, Long Island Jewish Hospital, 270-05 76th Ave., New Hyde Park, Long Island, N. Y.
Excerpt
Investigation of unusual and unexplainable aspects of leukemia may lead toward further understanding of malignant neoplasia. This is a report of three individuals with a rare and only recently recognized developmental defect, congenital telangiectatic erythema with stunted growth, who have died of acute leukemia. The data derived from their study have not been
documented previously, and their significance is uncertain.
Twenty-three cases of the rare syndrome, originally described in 1954 by Bloom, either have been reported in the scientific literature or are known personally to the authors (1-3). This syndrome is characterized by a low birth weight but otherwise generally
Acknowledgment
We wish to thank Drs. Max Schein and Luis Sanchez Medal of Mexico City for bringing the third patient (S. T.) to our attention and for permitting us to include a brief clinical summary here. They will publish a complete report elsewhere. We are also grateful to Dr. Jacob S. Rosen of Brooklyn, N. Y., for giving us permission to review the records and slides of Patient G. S.
We also wish to thank Mr. Milton Zisowitz for helpful criticism of the manuscript.
Summario in Interlingua
Inter le 23 recognoscite patientes con congenite erythema telangiectatic e crescentia retardate—un syndrome primo describite in 1954—solmente 3 ha morite, omnes ab leucemia acute. In un de iste casos, serial studios chromosomal de nucleate cellulas sanguinee in vitro esseva executate durante 2 annos e medie ante que leucemia clinic se disveloppava, e in omne occasion cellulas abundava con fracturate e rearrangiate chromosomas.
Le ver probabilitate de neoplasia maligne in iste disordine ha non ancora essite establite. Tamen, un meticulose controlo hematologic del afficite individuos pare esser indicate.
Le association de fracturage chromosomal con leucemia in iste infrequente e probabilemente geneticamente determinate disordine suggestiona que un investigation additional de illo quanto a aspectos biochimic va elucidar factores genetic de importantia in neoplasias maligne.
Article and Author Information
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From the Division of Hematology, Department of Laboratories, Long Island Jewish Hospital, New Hyde Park, N. Y., and the Division of Human Genetics, Department of Pediatrics, Cornell University Medical College, New York, N. Y.
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This study was supported in part by research grant HD-00635 from the National Institute of Child Health and Human Development, and a grant from The National Foundation.
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Dr. Sawitsky was the recipient of grants from the United Leukemia Fund and the Zelda Grossberg Foundation.
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- Received April 6, 1966.
- Accepted June 3, 1966.
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