RESUMO
Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. Patients with BS have photosensitivity, telangiectatic facial erythema, and stunted growth. They usually have mild microcephaly, and distinctive facial features such as a narrow, slender face, micrognathism, and a prominent nose. Kostmann disease (KD) is a subgroup of severe congenital neutropenias. The diagnosis of severe congenital neutropenia is based on clinical symptoms, bone marrow findings, and genetic mutation. Here, we report a female patient with a triangular face, nasal prominence, and protruding ears presenting with recurrent infections and severe neutropenia. Molecular genetic testing revealed a compound heterozygous variant in the HCLS-1-associated protein X-1 gene [(c.130_131insA) p.(trp44*), c.430 dup(p.Val144fs)] and a new homozygous variant in Bloom Syndrome RecQ like helicase gene [c.2074+2T>C p.(?)]. She was diagnosed with both BS and KD. To the best of our knowledge, this is the first case of coexisting BS and KD in a patient ever reported.
Assuntos
Síndrome de Bloom , Neutropenia , Neutropenia/congênito , Humanos , Feminino , Síndrome de Bloom/complicações , Síndrome de Bloom/genética , Síndrome de Bloom/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea , Neutropenia/complicações , Neutropenia/genética , MutaçãoRESUMO
OBJECTIVE: Bloom syndrome is a chromosomal breakage disorder associated with immune deficiency, characterized by short stature, predisposition to early-onset cancer, and immune defects. Currently, there have been no reports of acute cerebral infarction in patients with Bloom syndrome. Here, we report a case of Bloom syndrome complicated by elevated antiphospholipid antibodies and acute cerebral infarction. MATERIALS AND METHODS: A 23-year-old male with a known genetic diagnosis of Bloom syndrome was admitted to the Respiratory Department due to pulmonary aspergillosis. The patient experienced sudden dizziness, and subsequent cranial MRI revealed a newly developed infarction in the right cerebellar hemisphere. RESULTS: Six days later, the patient presented with sudden right visual field loss, and a repeat cranial MRI showed new infarctions in the left occipital and temporal lobes. Positive lupus anticoagulant and prolonged activated partial thromboplastin time suggested elevated antiphospholipid antibodies causing thrombus formation. Unfortunately, anticoagulant treatment was not administered due to recurrent hemoptysis. CONCLUSION: This study reports the first case of a Bloom syndrome patient with elevated antiphospholipid antibodies and acute cerebral infarction, suggesting that the immune and coagulation abnormalities caused by Bloom syndrome may contribute to the development of acute cerebral infarction.
Assuntos
Síndrome Antifosfolipídica , Síndrome de Bloom , Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Masculino , Humanos , Adulto Jovem , Adulto , Anticorpos Antifosfolipídeos , AVC Isquêmico/complicações , Síndrome de Bloom/complicações , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/tratamento farmacológico , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/complicações , Isquemia Encefálica/etiologia , Isquemia Encefálica/complicações , Infarto , Infarto Cerebral/complicações , Infarto Cerebral/diagnóstico por imagemRESUMO
Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom syndrome (BS), a rare genetic disorder, with <300 cases reported worldwide, combines both. Indeed, patients with Bloom's syndrome are 150 to 300 times more likely to develop cancers than normal individuals. The wide spectrum of cancers developed by BS patients suggests that early initial events occur in BS cells which may also be involved in the initiation of carcinogenesis in the general population and these may be common to several cancers. BS is caused by mutations of both copies of the BLM gene, encoding the RecQ BLM helicase. This review discusses the different aspects of BS and the different cellular functions of BLM in genome surveillance and maintenance through its major roles during DNA replication, repair, and transcription. BLM's activities are essential for the stabilization of centromeric, telomeric and ribosomal DNA sequences, and the regulation of innate immunity. One of the key objectives of this work is to establish a link between BLM functions and the main clinical phenotypes observed in BS patients, as well as to shed new light on the correlation between the genetic instability and diseases such as immunodeficiency and cancer. The different potential implications of the BLM helicase in the tumorigenic process and the use of BLM as new potential target in the field of cancer treatment are also debated.
Assuntos
Síndrome de Bloom/genética , Neoplasias/genética , RecQ Helicases/genética , Síndrome de Bloom/complicações , Síndrome de Bloom/patologia , Replicação do DNA/genética , Instabilidade Genômica , Humanos , Mutação/genética , Neoplasias/complicações , Neoplasias/patologia , Ligação Proteica/genéticaRESUMO
Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.
Assuntos
Síndrome de Bloom/genética , Proteínas de Ligação a DNA/genética , Proteína do Grupo de Complementação D2 da Anemia de Fanconi/genética , Neoplasias/genética , Proteínas Nucleares/genética , Síndrome de Bloom/complicações , Síndrome de Bloom/patologia , Instabilidade Cromossômica/genética , DNA Helicases/genética , DNA Cruciforme/genética , Predisposição Genética para Doença , Instabilidade Genômica , Humanos , Complexos Multiproteicos/genética , Neoplasias/complicações , Neoplasias/patologia , Troca de Cromátide Irmã/genéticaRESUMO
Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility.
Assuntos
Síndrome de Bloom/epidemiologia , Atenção à Saúde , Síndrome de Bloom/complicações , Síndrome de Bloom/diagnóstico , Síndrome de Bloom/terapia , Criança , Desenvolvimento Infantil , Pré-Escolar , Atenção à Saúde/história , Atenção à Saúde/organização & administração , Gerenciamento Clínico , Feminino , Diretrizes para o Planejamento em Saúde , História do Século XX , História do Século XXI , Humanos , Incidência , Inteligência , Masculino , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Neoplasias/etiologia , Neoplasias/terapia , Estado Nutricional , Fenótipo , Vigilância em Saúde Pública , Sistema de RegistrosRESUMO
This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family. The patient, an 11-year-old male with mature B-cell lymphoma, had minimal therapeutic response and significant dose-limiting toxicity with standard chemotherapy treatment. He later responded successfully to a rituximab-based chemotherapy protocol. This case highlights that the rituximab-based chemotherapy protocol is an effective and safe treatment alternative for mature B-cell lymphoma in patients with BS. Further trials are warranted to investigate this modality of treatment.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Síndrome de Bloom/complicações , Linfoma de Células B/tratamento farmacológico , Linfoma de Células B/genética , Rituximab/uso terapêutico , Criança , Humanos , MasculinoAssuntos
Síndrome de Bloom/complicações , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Proteínas de Ligação a DNA/genética , Transplante de Células-Tronco Hematopoéticas , Leucemia Monocítica Aguda/terapia , Proteínas de Fusão Oncogênica/genética , Terapia de Salvação , Fatores de Transcrição/genética , Cariótipo Anormal , Aloenxertos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Sequência de Bases , Síndrome de Bloom/genética , Criança , Resistencia a Medicamentos Antineoplásicos , Éxons/genética , Heterozigoto , Humanos , Leucemia Monocítica Aguda/tratamento farmacológico , Leucemia Monocítica Aguda/etiologia , Leucemia Monocítica Aguda/genética , Masculino , Domínios Proteicos , Indução de Remissão , Sequenciamento do ExomaRESUMO
Bloom syndrome (BS) is an extremely rare, autosomal recessive genetic syndrome of humans. Patients with BS are predisposed to almost all forms of cancer and also display premature aging phenotypes. These patients are diagnosed in the clinics by hyper-recombination phenotype that is manifested by high rates of sister chromatid exchange. The gene mutated in BS, designated BLM, lies on chromosome 15q26.1 and encodes a RecQ-like ATP-dependent 3'-5' helicase, which functions in DNA double-strand break repair processes such as non-homologous end joining, homologous recombination-mediated repair, resolution of stalled replication forks and synthesis-dependent strand annealing, although its precise functions at the telomeres are speculative. Recently it has been suggested that the BLM helicase may play important roles in Telomerase-independent forms of telomere elongation or alternative lengthening of telomeres (ALT). A mechanism that although provides cells with a window of opportunity to save ends of their chromosomes, puts these Telomerase (-/-) cells under continuous stress. BLM localization within ALT-associated PML nuclear bodies in telomerase-negative immortalized cell lines and its interaction with the telomere-specific proteins strengthens that suggestion. Here, I begin by outlining features common to all RecQ helicases. I, then, survey evidences that implicate possible roles of BLM helicase in this recombination-mediated mechanism of telomere elongation.
Assuntos
Síndrome de Bloom/genética , Neoplasias/genética , RecQ Helicases/genética , Homeostase do Telômero/genética , Envelhecimento , Síndrome de Bloom/complicações , Síndrome de Bloom/enzimologia , Quebras de DNA de Cadeia Dupla , Reparo do DNA/genética , Replicação do DNA/genética , Humanos , Neoplasias/complicações , Neoplasias/patologia , RecQ Helicases/química , Recombinação Genética , Telomerase/genéticaRESUMO
BACKGROUND: An increased incidence of non-Hodgkin lymphoma (NHL) has been seen in various primary immune deficiency (PID) cases. The present study aimed to evaluate the clinical characteristics and treatment outcomes of five cases with NHL associated with primary immunodeficiency. METHODS: We retrospectively evaluated five patients with primary immunodeficiency who developed NHL. Two patients had ataxia-telangiectasia (A-T), one patient had common variable immunodeficiency (CVID), one patient had Bloom's Syndrome, and one patient had Wiskott-Aldrich syndrome (WAS). RESULTS: All patients were male (median age, 8 years). Stage distribution was stage III in three patients and stage IV in two patients. Three patients had B-cell lymphoma and two had T-cell lymphoma. Reduced doses of Berlin-Frankfurt-Münster (BFM) and French Society of Pediatric Oncology (SFOP) regimens were used in four patients according to histopathological subtype. The two patients with ataxia and one patient with Bloom's Syndrome died of progressive/relapsed disease at months 5, 19, and 6, respectively. The patient with CVID associated with T-cell lymphoma has been in remission for 7 years. A full-dosage regimen of rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) was successfully used in the patient with WAS and B-cell lymphoma; he was still in remission after 3 years. CONCLUSION: Primary immunodeficiency diseases are one of the strongest known risk factors for the development of NHL. Management of these patients remains problematic. There is a great need to develop new therapeutic approaches in this group. The use of rituximab in combination with CHOP may provide a promising treatment option for B-cell lymphomas associated with immunodeficiency.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Imunodeficiência de Variável Comum , Linfoma não Hodgkin , Síndrome de Wiskott-Aldrich , Adolescente , Adulto , Anticorpos Monoclonais Murinos/administração & dosagem , Ataxia Telangiectasia/complicações , Ataxia Telangiectasia/tratamento farmacológico , Ataxia Telangiectasia/patologia , Síndrome de Bloom/complicações , Síndrome de Bloom/tratamento farmacológico , Síndrome de Bloom/patologia , Criança , Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/tratamento farmacológico , Imunodeficiência de Variável Comum/patologia , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Feminino , Humanos , Lactente , Recém-Nascido , Linfoma não Hodgkin/tratamento farmacológico , Linfoma não Hodgkin/etiologia , Linfoma não Hodgkin/patologia , Masculino , Prednisona/administração & dosagem , Estudos Retrospectivos , Fatores de Risco , Rituximab , Vincristina/administração & dosagem , Síndrome de Wiskott-Aldrich/complicações , Síndrome de Wiskott-Aldrich/tratamento farmacológico , Síndrome de Wiskott-Aldrich/patologiaRESUMO
Bloom syndrome is a disorder associated with genomic instability that causes affected people to be prone to cancer. Bloom cell lines show increased sister chromatid exchange, yet are proficient in the repair of various DNA lesions. The underlying cause of this disease are mutations in a gene encoding a RECQ DNA helicase. Using embryonic stem cell technology, we have generated viable Bloom mice that are prone to a wide variety of cancers. Cell lines from these mice show elevations in the rates of mitotic recombination. We demonstrate that the increased rate of loss of heterozygosity (LOH) resulting from mitotic recombination in vivo constitutes the underlying mechanism causing tumour susceptibility in these mice.
Assuntos
Síndrome de Bloom/complicações , Síndrome de Bloom/genética , Mitose/genética , Neoplasias Experimentais/etiologia , Neoplasias Experimentais/genética , Recombinação Genética , Adenosina Trifosfatases/genética , Alelos , Animais , Sequência de Bases , Síndrome de Bloom/patologia , DNA Helicases/genética , Primers do DNA/genética , Modelos Animais de Doenças , Humanos , Perda de Heterozigosidade , Meiose/genética , Camundongos , Camundongos Mutantes , Neoplasias Experimentais/patologia , Fenótipo , RecQ HelicasesRESUMO
OBJECTIVES: Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM gene resulting in genetic instability and an elevated rate of spontaneous sister chromatid exchanges. It leads to insulin resistance, early-onset diabetes, dyslipidemia, growth delay, immune deficiency and cancer predisposition. Recent studies demonstrate that the BLM gene is highly expressed in pancreatic islet cells and its mutations can alter the expression of other genes which are associated with apoptosis control and cell proliferation. CASE PRESENTATION: A 5-month-old female patient from consanguineous parents presented with drug-resistant CHI and dysmorphic features. Genetic testing revealed a homozygous mutation in the KCNJ11 gene and an additional homozygous mutation in the BLM gene. While 18F-DOPA PET scan images were consistent with a focal CHI form and intraoperative frozen-section histopathology was consistent with diffuse CHI form, postoperative histopathological examination revealed features of an atypical form. CONCLUSIONS: In our case, the patient carries two distinct diseases with opposite metabolic phenotypes.
Assuntos
Síndrome de Bloom , Hiperinsulinismo Congênito , Hiperinsulinismo , Síndrome de Bloom/complicações , Síndrome de Bloom/genética , Hiperinsulinismo Congênito/complicações , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/patologia , Feminino , Humanos , Hiperinsulinismo/complicações , Hiperinsulinismo/genética , Lactente , Mutação , Fenótipo , Doenças Raras , Receptores de Sulfonilureias/genéticaRESUMO
Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.
Assuntos
Síndrome de Bloom/complicações , Diabetes Mellitus Tipo 1/complicações , Síndrome de Bloom/genética , Diabetes Mellitus Tipo 1/genética , Humanos , Masculino , Mutação , RecQ Helicases/genética , Adulto JovemRESUMO
Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and a strong predisposition to different types of malignancies. Treatment of malignancies in BS patients with radiotherapy or chemotherapy is believed to be associated with increased toxicity, but clinical and laboratory data are lacking. We collected clinical data of two Dutch BS patients with solid tumors. Both were treated with radiotherapy before the diagnosis BS was made and tolerated this treatment well. In addition, we collected fibroblasts from BS patients to perform in vitro clonogenic survival assays to determine radiosensitivity. BS fibroblasts showed less radiosensitivity than the severely radiosensitive Artemis fibroblasts. Moreover, studies of double strand break kinetics by counting 53BP1 foci after irradiation showed similar patterns compared to healthy controls. In combination, the clinical cases and laboratory experiments are valuable information in the discussion whether radiotherapy is absolutely contraindicated in BS, which is the Case in other DNA repair syndromes like Ataxia Telangiectasia and Artemis.
Assuntos
Síndrome de Bloom/complicações , Carcinoma/radioterapia , Radioterapia/efeitos adversos , Adulto , Síndrome de Bloom/genética , Carcinoma/complicações , Células Cultivadas , Quebras de DNA de Cadeia Dupla , Reparo do DNA , Feminino , Fibroblastos/efeitos da radiação , Humanos , Masculino , Pessoa de Meia-Idade , Tolerância a Radiação , RecQ Helicases/genéticaRESUMO
Bloom syndrome is a rare genodermatosis of autosomal recessive inheritance. Although lupus-like skin lesions characterize this disorder, mechanisms of photosensitivity are poorly understood. In this case presentation, the authors report a patient with Bloom syndrome whose lupus-like facial rash revealed striking histopathologic similarities to cutaneous lupus erythematosus.
Assuntos
Síndrome de Bloom/patologia , Lúpus Eritematoso Cutâneo/patologia , Transtornos de Fotossensibilidade/patologia , Dermatopatias/patologia , Adolescente , Síndrome de Bloom/complicações , Síndrome de Bloom/genética , Diagnóstico Diferencial , Humanos , Masculino , Transtornos de Fotossensibilidade/complicações , Transtornos de Fotossensibilidade/genética , Dermatopatias/etiologia , Dermatopatias/genéticaRESUMO
We report a patient with Bloom syndrome, a rare autosomal recessive condition characterised by chromosomal instability leading to a high risk of cancer at an early age. The diagnosis should be considered in patients with any cancer of significantly early onset, short stature and a photosensitive lupus-like rash on the face. Diagnostic confirmation is obtained from chromosome studies that show significantly increased numbers of sister chromatid exchanges. There are important management implications, including minimising the use of ionising radiation in surveillance and treatment.
Assuntos
Síndrome de Bloom/complicações , Neoplasias/diagnóstico , Neoplasias/terapia , Adulto , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/terapia , Neoplasias do Colo/diagnóstico , Neoplasias do Colo/terapia , Feminino , Humanos , Programas de Rastreamento , Neoplasias/etiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapiaRESUMO
Bloom syndrome is a cancer predisposition disorder caused by mutations in the BLM helicase gene. Cells from persons with Bloom syndrome exhibit striking genomic instability characterized by excessive sister chromatid exchange events (SCEs). We applied single-cell DNA template strand sequencing (Strand-seq) to map the genomic locations of SCEs. Our results show that in the absence of BLM, SCEs in human and murine cells do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of guanine quadruplex (G4) motifs in transcribed genes. We propose that BLM protects against genome instability by suppressing recombination at sites of G4 structures, particularly in transcribed regions of the genome.
Assuntos
Síndrome de Bloom/genética , Quadruplex G , Neoplasias/etiologia , RecQ Helicases/metabolismo , Troca de Cromátide Irmã , Animais , Síndrome de Bloom/complicações , Linhagem Celular , Instabilidade Genômica , Humanos , Perda de Heterozigosidade , CamundongosRESUMO
Objective: To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Methods: Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. The mutations were detected with high-throughput sequencing by Illumina sequencing platform. Results: The two siblings (probands) visited our department for short stature and growth retardation, they had full-term normal delivery after normal pregnancy of their mother. Both cases presented with feeding difficulties, malnutrition, microcephaly and mental retardation, repeated infection, symmetrical short stature and special faces. At first, the proband was an 8-year-3-month old girl, her height was 99.7 cm, body mass index (BMI) 12.07 kg/m(2), head circumference was 45.5 cm, and birth weight was 1.6 kg. Her younger brother was 3-year-11-month old, his height was 86.6 cm, BMI was 14 kg/m(2), birth weight was 1.95 kg, and the head circumference reached 36 cm at 16 months. No evidence of cancer and characteristic rash was detected at 8-year follow-up. Pathogenic complex heterozygous mutations c.772_773delCT, p.Leu258Glufs*7 and c.959+ 2T>A in BLM gene were detected in both siblings, which were separately inherited from their unaffected parents. Besides , c.959 + 2T>A has not been reported previously. Conclusions: Children with Bloom syndrome are characterized by short stature, microcephaly, special faces, feeding difficulties, and immunodeficiency. And butterfly erythematous rash may be absent. The c.959+2T>A mutation detected in our patients maybe a novel pathogenic mutation.
Assuntos
Síndrome de Bloom , Microcefalia , Síndrome de Bloom/complicações , Síndrome de Bloom/genética , Criança , China , Feminino , Heterozigoto , Humanos , Doenças do Sistema Imunitário/etiologia , Masculino , Desnutrição , Microcefalia/etiologia , Gravidez , IrmãosRESUMO
Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies. The greatly increased frequency of sister chromatid exchanges (reciprocal exchange of homologous segments between the two sister chromatids of a chromosome) is regarded as pathognomonic for BS. We describe an 18-year old girl who presented with short stature. She was diagnosed with BS based on an extremely increased frequency of sister chromatid exchanges. Ophthalmological examination revealed mild lens opacities bilaterally, which, to our knowledge, has not been previously reported to be associated with BS.
Assuntos
Síndrome de Bloom/complicações , Catarata/etiologia , Adolescente , Síndrome de Bloom/genética , Síndrome de Bloom/patologia , Estatura , Fácies , Feminino , Humanos , Troca de Cromátide IrmãRESUMO
BACKGROUND: Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by dwarfism and a predisposition to cancer. Squamous cell vaginal cancer is also quite rare and has not before been reported in association with BS. CASE: A 37-year-old woman, para 0-0-2-0, with BS was referred to the gynecologic oncology service for a suspicious mass in the vagina associated with dyspareunia and vaginal bleeding. Previous biopsies were consistent with high grade vaginal dysplasia, however, thorough surgical evaluation ultimately demonstrated stage II vaginal cancer. After consultation with a gynecologic oncologist and radiation oncologist, an adjuvant treatment plan was created for external beam radiation with cisplatin potentiation followed by intracavitary brachytherapy. CONCLUSION: BS is an excellent model of human cancer in general. These patients are diagnosed with cancers at an earlier age and higher rate than is the general population, but the distribution of cancer type seems to be similar to that in the general population. Treatment of cancers in this population is largely similar to that of the general population. There is no known treatment to decrease the occurrence of neoplasia in BS patients other than strict adherence to all known cancer surveillance screening modalities.