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Letter to the Editor IS MITOMYCIN C-INDUCED CHROMOSOME BREAKAGE ALWAYS REQUIRED FOR THE DIAGNOSIS OF FANCONI APLASTIC ANEMIA? S ¸inasi ¨ Ozsoylu, MD h Department of Paediatrics and Haematology, Fatih University, Medica Faculty, Ankara, Turkey I read with enthusiasm the brief report of Papadopoulos et al. entitled ªA case of non-Fanconi anemia bone marrow dysfunction with familial in- volvementº in the May± June, 1998 issue of Pediatric Hematology and OncÈology (1998;15:277± 281). The patient had almost all criteria (cafe-au-lait spots, pancytopenia with bone marrow failure, eye, hand ® ndings, growth retardation, microcephaly, and family history) for the diagnosis of Fanconi aplastic anemia (FA) except lack of the characteristic chromosome breaks following clastogenic stress which is essential for International Fanconi Anemia Registry. Although I completely agree with the authors statement that ªwe will probably have to wait until all of the many FA and related genes have been cloned and their functions identi® ed,º the paper of Dokal et al. [1] strongly suggests that positive diepoxybutane test is not essential for the diagnosis of Fanconi’s aplastic anemia. I believe the patient reported in this study is another example for the above suggestion. REFERENCE 1. Dokal I, Chase A, Morgan NV, et al. Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi’s anemia complementatin group C mutation. Br J Haematol. 1996;93:813± 816. Received 6 August 1998; accepted 21 August 1998. Address correspondence to SË inasi È Ozsoylu, MD, Department of Paediatrics and Haematology, Fatih University, Medica Faculty, CË iftlik cad. No: 57, 06510 Emek-Ankara, Turkey. Pediatric Hematology and Oncology, 16:271, 1999 Copyright C ° 1999 Taylor & Francis 0888-0018/99 $12.00 + .00 271 Pediatr Hematol Oncol 1999.16:271-271. Downloaded from informahealthcare.com by CDL-UC Davis on 10/27/14. For personal use only.

IS MITOMYCIN C-INDUCED CHROMOSOME BREAKAGE ALWAYS REQUIRED FOR THE DIAGNOSIS OF FANCONI APLASTIC ANEMIA?

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Letter to the Editor

IS MITOMYCIN C-INDUCED CHROMOSOME BREAKAGE ALWAYSREQUIRED FOR THE DIAGNOSIS OF FANCONI APLASTIC ANEMIA?

Sinasi Ozsoylu, MD h Department of Paediatrics and Haematology, FatihUniversity, Medica Faculty, Ankara, Turkey

I read with enthusiasm the brief report of Papadopoulos et al. entitledªA case of non-Fanconi anemia bone marrow dysfunction with familial in-volvementº in the May± June, 1998 issue of Pediatric Hematology and OncÈology

(1998;15:277 ± 281).The patient had almost all criteria (cafe-au-lait spots, pancytopenia with

bone marrow failure, eye, hand ® ndings, growth retardation, microcephaly,and family history) for the diagnosis of Fanconi aplastic anemia (FA) exceptlack of the characteristic chromosome breaks following clastogenic stresswhich is essential for International Fanconi Anemia Registry.

Although I completely agree with the authors statement that ªwe willprobably have to wait until all of the many FA and related genes have beencloned and their functions identi® ed,º the paper of Dokal et al. [1] stronglysuggests that positive diepoxybutane test is not essential for the diagnosisof Fanconi’s aplastic anemia. I believe the patient reported in this study isanother example for the above suggestion.

REFERENCE

1. Dokal I, Chase A, Morgan NV, et al. Positive diepoxybutane test in only one of two brothers found to

be compound heterozygotes for Fanconi’s anem ia complem entatin group C mutation. Br J Haematol.

1996;93:813 ± 816.

Received 6 August 1998; accepted 21 August 1998.

Address correspondence to SË inasi ÈOzsoylu, M D, Departm ent of Paediatrics and Haematology, Fatih

University, Medica Faculty, CË iftlik cad. No: 57, 06510 Emek-Ankara, Turkey.

Pediatric Hem atology and Oncology, 16:271, 1999

Copyright C° 1999 Taylor & Francis

0888-0018/99 $12.00 + .00 271

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