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Autor(en)	Titel	Quelle	Links
Aarbakke J, Janka-Schaub G, Elion G	Thiopurine biology and pharmacology.	Trends Pharmacol Sci 1997, 18: 3
Abdollahzadeh M, Hoffman HJ, Blazer SI, Becker LE, Humphreys RP, Drake JM, Rutka JT	Benign cerebellar astrocytoma in childhood: experience at the Hospital for Sick Children 1980-1992.	Childs Nerv Syst 1994, 10: 380
Abramson DH, Frank CM	Second nonocular tumors in survivors of bilateral retinoblastoma: a possible age effect on radiation-related risk. [+]	Ophthalmology 1998, 105: 573-9; discussion 579
OBJECTIVE: This study aimed to investigate the relationship in bilateral retinoblastoma survivors between the incidence of second tumors and the age when external beam radiation (EBR) was used. DESIGN: A retrospective analysis of patients diagnosed with retinoblastoma was performed by examining records for background information and treatment information as well as reviewing documentation of patients with second nonocular tumors. Two telephone interviews were conducted for follow-up as well as inquiries directed to tumor registries and state databases. PARTICIPANTS: The original study included 1729 patients treated in New York and Boston; the current study includes only the 1506 patients treated in New York. Of those, 816 patients were diagnosed with bilateral retinoblastoma, had sufficient treatment data to be useful, and survived at least 1 year from diagnosis. MAIN OUTCOME MEASURES: The subjects were observed for evidence of the development of second nonocular tumors. RESULTS: There was a significant decrease in tumor-free survival among patients treated with EBR before the age of 12 months, but no significant difference between the group treated with EBR after the age of 12 months and the group not treated with EBR. For tumors in the field of radiation, patients treated with early EBR showed a significant decrease in tumor-free survival when compared to patients treated with late EBR, with no significant difference between late radiation and no radiation. There were no significant differences between groups for tumors out of the field of radiation. Significant differences attributable to the use of EBR were found only for tumors of the skull and face bones and for tumors of the soft tissue of the head. CONCLUSIONS: The long-term effect of radiation treatment on survivors of bilateral retinoblastoma is to increase the incidence and affect the distribution of second tumors. However, no increased risk is observed for tumors out of the field of radiation among patients who underwent radiation, and the risk for tumors in the field of radiation is heavily dependent on the age at which EBR is given and may be acceptably small to the patient after the age of 12 months.
Aerts I, Sastre-Garau X, Savignoni A, Lumbroso-Le Rouic L, Thebaud-Leculée E, Frappaz D, Coze C, Thomas C, Gauthier-Villars M, L'evy-Gabriel C, Brisse HJ, Desjardins L, Doz F	Results of a Multicenter Prospective Study on the Postoperative Treatment of Unilateral Retinoblastoma Following Primary Enucleation. [+]	J Clin Oncol 2013 Mar 4; [Epub ahead of print]
PURPOSEThe objective of this prospective study was to assess overall survival and event-free survival in patients with intraocular unilateral retinoblastoma (Reese-Ellsworth group V) treated by primary enucleation with or without adjuvant therapy depending on histopathologic risk factors. PATIENTS AND METHODSPatients (n = 123) were divided into three groups on the basis of risk factors for extraocular relapse and metastasis assessed on centralized histologic examination of enucleated eyes. Group 1 (n = 70) had minimal or no choroidal involvement and/or prelaminar or no optic nerve involvement and received no adjuvant therapy. Group 2 (n = 52) had massive choroidal involvement and/or intra- or retrolaminar optic nerve involvement and/or anterior segment involvement and received four courses of adjuvant chemotherapy. Group 3 (n = 1) had invasion of the surgical margin of the optic nerve and/or microscopic extrascleral involvement and received six courses of adjuvant chemotherapy with intrathecal thiotepa, consolidation chemotherapy, and autologous stem-cell rescue. Genetic testing was also performed.ResultsMedian follow-up for the 123 patients was 71 months. No disease progression, relapse, or distant metastasis occurred during follow-up. No second malignancies occurred. This requires confirmation with longer follow-up. Secondary bilateralization occurred in two patients with identified RB1 germline mutation. Adjuvant chemotherapy was well tolerated, with limited toxicity. Molecular testing found constitutional RB1 gene mutations in only nine of 100 evaluated patients. CONCLUSIONThe survival rate of 100% was excellent, including 57% of patients who received no adjuvant therapy, suggesting that chemotherapy could be de-escalated in some patients, especially those with massive choroidal involvement.
Agrawal AK, Hsu E, Quirolo K, Neumayr LD, Flori HR	Red blood cell transfusion in pediatric patients with severe chronic anemia: How slow is necessary? [+]	Pediatric blood & cancer 2012, 58: 466
Historic practice recommends slow transfusion for children with chronic anemia and hemoglobin less than 5.0 g/dl due to the theoretical risk of transfusion-associated circulatory overload (TACO). In our pediatric intensive care unit (PICU), we have been utilizing a more liberal transfusion practice in patients without underlying cardiopulmonary disease, and a faster transfusion rate appears safe in this population. Rate of transfusion must be based on multiple factors including convenience, timeliness of procedures and transport to an appropriate care facility, risk of alloimmunization and wastage of blood, stress for the family, and need for PICU monitoring. Pediatr Blood Cancer 2012; 58: 466-468. © 2011 Wiley Periodicals, Inc.
Ahrens S, Hoffmann C, Jabar S, Braun-Munzinger G, Paulussen M, Dunst J, Rübe C, Winkelmann W, Heinecke A, Göbel U, Winkler K, Harms D, Treuner J, Jürgens H	Evaluation of prognostic factors in a tumor volume-adapted treatment strategy for localized Ewing sarcoma of bone.	Med Pediatr Oncol 1999, 32: 186
Ait-Tahar K, Damm-Welk C, Burkhardt B, Zimmermann M, Klapper W, Reiter A, Pulford K, Woessmann W	Correlation of the autoantibody response to the ALK oncoantigen in pediatric anaplastic lymphoma kinase-positive anaplastic large cell lymphoma with tumor dissemination and relapse risk. [+]	Blood 2010, 115: 3314
Anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) constitutes an ideal model disease to study tumor-specific immune responses. All the tumor cells express oncogenic ALK resulting from a chromosomal translocation involved in lymphomagenesis. Although antibodies and T-cell responses to ALK have previously been detected in ALK-positive ALCL patients, their prognostic significance is unknown. We investigated a large cohort of uniformly treated ALK-positive pediatric ALCL patients to ascertain whether the titers of preexisting ALK autoantibodies correlated with clinical and histologic characteristics, tumor dissemination, and patient outcome. ALK autoantibodies were analyzed in pretherapeutic serum samples from 95 patients enrolled into 2 therapy studies between 1996 and 2007. ALK autoantibodies were detected in 87/95 patients. The titers inversely correlated with stage and amount of circulating tumor cells. High antibody titers correlated with significantly lower cumulative incidence of relapses (CI-R): titers > or = 1/60 750, n = 29, CI-R 11% +/- 6%; titers 1/2025-< 1/60 750, n = 39, CI-R 31% +/- 8%; and titers 0-< or = 1/750, n = 27, CI-R of 63% +/- 10% (P < .001). Our results provide the first clinical evidence that a robust preexisting immune response to an oncoantigen resulting from an oncogenic chromosomal translocation inhibits lymphoma dissemination and decreases the risk of relapse.
Aladjidi N, Leverger G, Leblanc T, Picat MQ, Michel G, Bertrand Y, Bader-Meunier B, Robert A, Nelken B, Gandemer V, Savel H, Stephan JL, Fouyssac F, Jeanpetit J, Thomas C, Rohrlich P, Baruchel A, Fischer A, Chêne G, Perel Y, Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE)	New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children. [+]	Haematologica 2011, 96: 655
Autoimmune hemolytic anemia is a rare condition in children. Little is known about its initial presentation and the subsequent progression of the disease.
Albright AL, Packer RJ, Zimmerman R, Rorke LB, Boyett J, Hammond GD	Magnetic resonance scans should replace biopsies for the diagnosis of diffuse brain stem gliomas: a report from the Children's Cancer Group.	Neurosurgery 1993, 33: 1026
Albrecht S, von Schweinitz D, Waha A, Kraus J, von Deimling A, Pietsch T	Loss of maternal alleles on chromosome arm 11p in hepatoblastoma.	Cancer Res 1994, 54: 5041
Albrecht S, Hartmann W, Houshdaran F, Koch A, Gartner B, Prawitt D, Zabel BU, Russo P, Von Schweinitz D, Pietsch T	Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15. 5 in hepatoblastoma. [+]	International journal of cancer. Journal international du cancer 2004, 111: 627
Chromosomal region 11p15.5 shows frequent maternal allelic loss in embryonal tumors, including rhabdomyosarcoma (RMS), Wilms' tumor (WT) and hepatoblastoma (HB), consistent with the presence of at least one tumor suppressor gene in this region, which should be paternally imprinted, i.e., expressed from the maternal allele only. The BWR1A gene encodes a polyspecific transmembrane transporter and is located on 11p15.5. It is highly expressed in liver, paternally imprinted and was found to be mutated in an RMS cell line, making it a plausible tumor suppressor gene for HB. We therefore screened 62 HBs, 3 HB cell lines and 1 pediatric hepatocellular carcinoma for BWR1A mutations using single-strand conformation polymorphism analysis. Allelic loss on 11p15.5 was assessed by PCR-based microsatellite analysis in 56 of the cases for which constitutional DNA was available. BWR1A mRNA expression was determined in 14 HBs by differential RT-PCR of matched cDNA samples from tumor and normal liver. Western blot analysis was performed on 4 tumors and matching normal liver tissue. Except for sequence polymorphisms (in exons 2, 3 and 10 as well as in introns 6 and 7), no mutations were found. Thirteen HBs (23%) had allelic loss on 11p15.5; this included BWR1A in 12 but it was telomeric to BWR1A in 1. Expression of BWR1A mRNA was reduced in 11 out of 14 cases by 19-92%, independent from allelic loss of 11p15.5. By Western blot analysis, all 4 tumors and matching liver samples displayed a 48-51 kd band corresponding to BWR1A. These results make it unlikely that BWR1A is the target of the allelic deletions in HB. However, similar to the putative 11p15.5 tumor suppressor H19, BWR1A appears to be reduced in expression. Reduced expression in the absence of mutations may contribute to HB development; however, to understand the significance of this finding will require further studies on the function of BWR1A, specifically its role in liver development.
Allen JC, Helson L	High-dose cyclophosphamide chemotherapy for recurrent CNS tumors in children. [+]	Journal of neurosurgery 1981, 55: 749
A Phase Ii chemotherapy trial was conducted in 18 children with recurrent brain tumors, using high doses (80 mg/kg or greater) of intravenous cyclophosphamide cyclophosphamide. All eight patients with medulloblastomas responded; two patients with systemic metastases had complete responses and six others had partial responses. In seven patients with gliomas, there were one complete and four partial responses. In a third group, all three patients with intracranial germ-cell tumors had partial responses. The overall response rate was, therefore, 89% (16 of 18 patients), and the mean duration of response was 7 months (range 2 to 24 or more months). The hematological toxicity was considerable, with two deaths possibly related to chemotherapy: one patient, a recipient of unirradiated packed cells, died from a graft versus host reaction, and the other died from an intracranial hemorrhage during a thrombocytopenic episode. Four patients had prior chemotherapy, and 10 patients had prior neuraxis radiation therapy. These patients tolerated aggressive chemotherapy reasonably well. The results are sufficiently encouraging to justify a Phase III trial in patients with newly diagnosed disease.
Allen JC, Donahue B, DaRosso R, Nirenberg A	Hyperfractionated craniospinal radiotherapy and adjuvant chemotherapy for children with newly diagnosed medulloblastoma and other primitive neuroectodermal tumors. [+]	International journal of radiation oncology, biology, physics 1996, 36: 1155
PURPOSE: This single-institution Phase III study conducted from 1989 to 1995 evaluates the feasibility of a multimodality protocol combining hyperfractionated craniospinal radiotherapy (HFRT) followed by adjuvant chemotherapy in 23 patients with newly diagnosed primitive neuroectodermal tumors (PNET) arising in the central nervous system. METHODS AND MATERIALS: All 23 patients had a histologically confirmed PNET and were over 3 years of age at diagnosis. The eligibility criteria for PNET patients with cerebellar primaries (medulloblastoma) included either a high T stage (T3b or 4) or high M stage (M1-3). All patients with noncerebellar primaries were eligible regardless of T or M stage. The median age of the 23 patients was 9 years (mean 3-25); 11 were female. The primary tumor arose in the cerebellum in 19. Of these medulloblastoma patients, 15 had high T stages (T3b or T4) with large locally invasive tumors and no evidence of metastases (M0), constituting Group 1. Thirteen (86%) of these patients had gross total resections. Four other medulloblastoma patients had both high T and high M stages, constituting Group 2. Group 3 consisted of four other patients with exocerebellar primaries (two brain, one brain stem, and one cauda equina), three of whom were M3. Hyperfractionated radiotherapy was administered within 4 weeks of surgery. Twice-daily 1-Gy fractions were administered separated by 4-6 h. The total dose to the primary intracranial tumor and other areas of measurable intracranial disease was 72 Gy. The prophylactic craniospinal axis dose was 36 Gy, and boosts of 44-56 Gy were administered to metastatic spinal deposits. Following radiotherapy, monthly courses of multiagent chemotherapy were administered sequentially (cyclophosphamide-vincristine followed by cisplatin-etoposide followed by carboplatin-vincristine) for a total of 9 months. RESULTS: All patients completed radiotherapy as planned. Only three patients lost >10% of their body weight. One patient had clinically apparent radiation-induced esophagitis. The mean white blood count (WBC) nadir was 2.5/dl, and hematologic recovery occurred in all within 4 weeks of completing HFRT without the need of granulocyte-colony-stimulating factor. Two patients refused adjuvant chemotherapy, 3 patients experienced tumor progression during chemotherapy, and 2 of 18 remaining patients could not tolerate the full 9 months owing to hematologic toxicity. Of the 15 patients (93%) in Group 1, 14 remain in continuous remission for a median of 78 months, and none have died. Two of four patients in Group 2 are in continuous remission at 67 and 35 months, and two died at 18 and 30 months. One of the two patients in Group 2 who died refused adjuvant chemotherapy and developed tumor progression in the bone marrow. None of the three patients in Group 3 with evaluable disease (M3) had a complete response to therapy, and eventually all four died of progressive or recurrent disease. CONCLUSION: This multimodality protocol is feasible in the short term, and long-term monitoring of neurocognitive and neuroendocrine effects are in progress. Excellent long-term disease control has been achieved for medulloblastoma patients with high T stages who were M0 at diagnosis (Group 1), the majority of whom had gross total resections. This group has a progression-free survival of 95% after a median period of follow-up of 6.5 years. Alternative treatment strategies must be developed for patients with high M stages, as five of seven patients died of progressive or recurrent disease.
Alter BP	Cancer in Fanconi anemia, 1927-2001. [+]	Cancer 2003, 97: 425
Fanconi anemia (FA) is an autosomal recessive disease associated with an abnormal response to DNA damage. Although FA is well known for the association of aplastic anemia and characteristic birth defects, leukemia and solid tumors also occur at a high rate in this group of patients. A review of all reported cases is informative with regard to the specific types of cancer, the ages at which they occur, and the cumulative probability of their development.
Ambros I, Attarbaschi A, Rumpler S, Luegmayr A, Turkof E, Gadner H, Ambros P	Neuroblastoma cells provoke Schwann cell proliferation in vitro.	Med Pediatr Oncol 2001, 36: 163
Ambros P, Ambros I	Pathology and biology guidelines for resectable and unresectable neuroblastic tumors and bone marrow examination guidelines.	Med Pediatr Oncol 2001, 37: 492
Ambros P, Ambros I, Kerbl R, Luegmayr A, Rumpler S, Ladenstein R, Amann G, Kovar H, Horcher E, De Bernardi B, Michon J, Gadner H	Intratumoural heterogeneity of 1p deletions and MYCN amplification in neuroblastomas.	Med Pediatr Oncol 2001, 36: 1
Andrassy RJ, Chwals WJ	Nutritional support of the pediatric oncology patient.	Nutrition 1998, 14: 124
Anderer G, Schrappe M, Brechlin A, Lauten M, Muti P, Welte K, Stanulla M	Polymorphisms within glutathione S-transferase genes and initial response to glucocorticoids in childhood acute lymphoblastic leukaemia.	Pharmacogenetics 2000, 10: 715
DeAngelis LM, Tong WP, Lin S, Fleisher M, Bertino JR	Carboxypeptidase G2 rescue after high-dose methotrexate. [+]	J Clin Oncol 1996, 14: 2145
This study was a pilot project to assess the safety and efficacy of carboxypeptidase G2 (CPG2) rescue from high-dose (HD) methotrexate (MTX) in patients with recurrent cerebral lymphoma.
Anteby I, Ramu N, Gradstein L, Miskin H, Pe'er J, Benezra D	Ocular and orbital complications following the treatment of retinoblastoma. [+]	European journal of ophthalmology 1998, 8: 106
PURPOSE: To investigate the ocular and orbital complications observed in children treated for retinoblastoma. SUBJECTS AND METHODS. We retrospectively studied 73 children (39 boys, 34 girls) suffering from retinoblastoma. Thirty-six had bilateral tumor and 37 unilateral disease for a total of 109 eyes affected. The follow-up was 6-180 months (median 36 months). Enucleation was the most common initial treatment approach in the unilateral group, and radiotherapy (by external beam) was the most common initial therapy in the bilateral group. Cryotherapy, photocoagulation, brachytherapy and/or systemic chemotherapy were used as adjuvant treatments when necessary. Ocular complications were recorded at the follow-up examinations. RESULTS. Cataract developed in 20% of the irradiated eyes. The mean time from irradiation until development of cataract was 28.5 months (6-64 months). Radiation retinopathy developed in 12% and was first detected 11-72 months (mean 37 months) after irradiation therapy. Mild transient keratopathy was observed in all eyes undergoing irradiation, and xerophthalmia in one eye. Complications after enucleation included: marked discharge from the socket (11.0%), extrusion of the implant (9.6%), and contraction of the socket (3.0%). No complications were observed after cryotherapy or laser photocoagulation of the tumor. CONCLUSIONS. Ocular complications after treating children with retinoblastoma are common and may seriously affect the quality of life of children surviving the primary malignancy.
Ardon H, De Vleeschouwer S, Van Calenbergh F, Claes L, Kramm CM, Rutkowski S, Wolff JE, Van Gool SW	Adjuvant dendritic cell-based tumour vaccination for children with malignant brain tumours. [+]	Pediatric blood & cancer 2010, 54: 519
BACKGROUND: A large experience with dendritic cell (DC)-based vaccination for malignant brain tumours has been gained in adults. Here we focus on the results obtained in children with relapsed malignant brain tumours. PROCEDURE: In total 45 children were vaccinated: 33 high grade glioma (HGG), 5 medulloblastoma (MB)/primitive neuro-ectodermal tumour (PNET), 4 ependymoma and 3 atypical teratoid-rhabdoid tumour (ATRT). Autologous, monocyte-derived DC were generated and loaded with tumour lysate, which was used as source of tumour-associated antigens. RESULTS: In 38 patients peripheral blood mononuclear cells (PBMC) were obtained from leukapheresis and in 7 patients from fresh blood samples. 7 HGG patients are still alive with median follow-up (FU) of 35.7 months (range: 12.1-85.6). Median overall survival (OS) was 13.5 months (range: 1.4-85.6). All patients with MB/PNET died (median OS 5.7 months; range 4.3-51.2). One patient with ependymoma is still alive at 22.3 months FU. The other three patients died at, respectively, 7.7, 30.1 and 31.5 months. Two patients with ATRT are still alive at, respectively, 34.1 and 52.6 months FU. The third patient died at 50.5 months. No severe adverse events were noticed. CONCLUSIONS: In this exploratory study, HGG and ATRT seem to respond more favourably to vaccination than MB/PNET and ependymoma. Although preliminary, our results are promising and support further testing of DC-based immunotherapy in new treatment protocols for HGG and ATRT.
Arico M, Valsecchi M, Camitta B, Schrappe M, Chessells J, Baruchel A, Gaynon P, Silverman L, Janka-Schaub G, Kamps W, Pui C, Masera G	Outcome of treatment in children with Philadelphia chromosome-positive acute lymphoblastic leukemia.	N Engl J Med 2000, 342: 998
Asmar L, Gehan E, Newton W, Webber B, Marsden H, van Unnik A, Hamoudi A, Shimada H, Tsokos M, Harms D	Agreement among and within groups of pathologists in the classification of rhabdomyosarcoma and related childhood sarcomas. Report of an international study of four pathology classifications.	Cancer 1994, 74: 2579
Attarbaschi A, Mann G, Dworzak M, Trebo M, Muhlegger N, Reiter A, Horcher E, Gadner H	The role of surgery in the treatment of pediatric B-cell non-Hodgkin's lymphoma.	J Pediatr Surg 2002, 37: 1470
Attarbaschi A, Mann G, Dworzak M, Trebo M, Urban C, Fink F, Horcher E, Reiter A, Riehm H, Gadner H	Malignant non-Hodgkin's lymphoma of childhood and adolescence in Austria--therapy results between 1986 and 2000.	Wien Klin Wochenschr 2002, 114: 978
Attarbaschi A, Mann G, Dworzak M, Wiesbauer P, Schrappe M, Gadner H	Mediastinal mass in childhood T-cell acute lymphoblastic leukemia.	Med Pediatr Oncol 2002, 39: 558
Attarbaschi A, Dworzak M, Steiner M, Urban C, Fink F, Reiter A, Gadner H, Mann G	Outcome of children with primary resistant or relapsed non-Hodgkin lymphoma and mature B-cell leukemia after intensive first-line treatment: a population-based analysis of the Austrian Cooperative Study Group.	Pediatr Blood Cancer 2005, 44: 70
Attarbaschi A, Mann G, Panzer-Grümayer R, Röttgers S, Steiner M, König M, Csinady E, Dworzak MN, Seidel M, Janousek D, Möricke A, Reichelt C, Harbott J, Schrappe M, Gadner H, Haas OA	Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemia Berlin-Frankfurt-Münster (ALL-BFM) trials. [+]	Journal of clinical oncology 2008, 26: 3046
PURPOSE: We aimed to identify relapse predictors in children with a B-cell precursor acute lymphoblastic leukemia (ALL) and an intrachromosomal amplification of chromosome 21 (iAMP21), a novel genetic entity associated with poor outcome. PATIENTS AND METHODS: We screened 1,625 patients who were enrolled onto the Austrian and German ALL-Berlin-Frankfurt-Münster (ALL-BFM) trials 86, 90, 95, and 2000 with ETV6/RUNX1-specific fluorescent in situ hybridization probes, and we identified 29 patient cases (2%) who had an iAMP21. Minimal residual disease (MRD) was quantified with clone-specific immunoglobulin and T-cell receptor gene rearrangements. RESULTS: Twenty-five patients were good responders to prednisone, and all achieved remission after induction therapy. Eleven patients experienced relapse, which included eight who experienced relapse after cessation of front-line therapy. Six-year event-free and overall survival rates were 37% +/- 14% and 66% +/- 11%, respectively. Results of MRD analysis were available in 24 (83%) of 29 patients: nine (37.5%) belonged to the low-risk, 14 (58.5%) to the intermediate-risk, and one (4%) to the high-risk group. MRD results were available in 8 of 11 patients who experienced a relapse. Seven occurred among the 14 intermediate-risk patients, and one occurred in the high-risk patient. CONCLUSION: The overall and early relapse rates in the BFM study were lower than that in a previous United Kingdom Medical Research Council/Childhood Leukemia Working Party study (38% v 61% and 27% v 47%, respectively), which might result from more intensive induction and early reintensification therapy in the ALL-BFM protocols. MRD values were the only reliable parameter to discriminate between a low and high risk of relapse (P = .02).
Auerbach AD	Fanconi anemia and its diagnosis. [+]	Mutat Res 2009, 668(1-2): 4
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies and solid tumors. Congenital anomalies vary from patient to patient and may affect skeletal morphogenesis as well as any of the major organ systems. Although this highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, laboratory study of chromosomal breakage induced by diepoxybutane (DEB) or other crosslinking agents provides a unique cellular marker for the diagnosis of the disorder either prenatally or postnatally. Diagnosis based on abnormal response to DNA crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. This overview will present our current knowledge regarding the varied phenotypic manifestations of FA and procedures for diagnosis based upon abnormal DNA damage responses.
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