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1.
J Pediatr Hematol Oncol ; 45(3): e406-e409, 2023 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-36044309

RESUMO

DICER1 syndrome is a rare inherited tumor predisposition syndrome associated with an increased risk for several malignant and benign tumors. We present a patient with pineal parenchymal tumor of intermediate differentiation who was found to have a germline pathogenic variant in DICER1 gene. Pineoblastoma is a known DICER1-related tumor; however, the association between pineal parenchymal tumor of intermediate differentiation and DICER1 mutation is rare with only 1 recent large molecular study that has reported this association. This report adds to the evolving tumor spectrum of DICER1 and highlights the importance of molecular evaluation of pediatric brain tumors, for both therapeutic decisions and long-term surveillance.


Assuntos
Neoplasias Encefálicas , Corpo Ciliar , RNA Helicases DEAD-box , Predisposição Genética para Doença , Glândula Pineal , Pinealoma , Ribonuclease III , Neoplasias Uveais , Humanos , Pinealoma/diagnóstico por imagem , Pinealoma/genética , Pinealoma/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/patologia , Ribonuclease III/genética , RNA Helicases DEAD-box/genética , Feminino , Adolescente , Síndrome , Corpo Ciliar/patologia , Neoplasias Uveais/genética , Neoplasias Uveais/patologia , Linhagem
2.
J Pediatr Hematol Oncol ; 44(3): e812-e815, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-35319513

RESUMO

The understanding of coronavirus disease 2019 (COVID-19) immune dysregulation is evolving. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with alternations in both innate and adaptive immunity, probably caused by a complex interplay of genetics and environmental exposure with various triggers. A rare hematological complication of SLE as well as recently reported in an adult with COVID-19 is thrombotic thrombocytopenic purpura. We report a pediatric case with features suggestive of the multisystem inflammatory syndrome in children with coronary artery ectasia, thrombotic thrombocytopenic purpura, and new-onset SLE.


Assuntos
COVID-19 , Lúpus Eritematoso Sistêmico , Púrpura Trombocitopênica Trombótica , Adulto , COVID-19/complicações , COVID-19/diagnóstico , Criança , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Púrpura Trombocitopênica Trombótica/complicações , Púrpura Trombocitopênica Trombótica/diagnóstico , Síndrome de Resposta Inflamatória Sistêmica/complicações
3.
Pediatr Hematol Oncol ; 37(8): 665-675, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32643500

RESUMO

The use of G-CSF after myelotoxic chemotherapy accelerates neutrophil recovery reducing the risk of febrile neutropenia. Current guidelines recommend initiating G-CSF 24 hours after myelotoxic chemotherapy. However, the optimal timing of post-chemotherapy G-CSF administration has not been elucidated. Our previous work in murine models demonstrated that the reappearance of myeloid progenitors does not occur in bone marrow until 3-4 days after completion of chemotherapy suggesting that delayed G-CSF administration may be equally efficacious compared to current practice. We conducted a prospective, randomized, crossover study to compare the absolute neutrophil count (ANC) recovery after chemotherapy and a delayed G-CSF administration to a standard G-CSF administration schedule with early G-CSF start. A total of 21 children with solid tumors who received 2 identical cycles of myelotoxic chemotherapy were randomized to start receiving G-CSF either 24 hours after completion of chemotherapy or on the day that their ANC dropped below 1,000/mm3. There was no significant difference in the time to neutrophil recovery (ANC > 1,000/mm3 post nadir) between the two G-CSF administration schedules: 16.0 ± 0.5 days in the standard group compared to 16.7 ± 0.4 days in the delayed group (p = 0.36). The total number of G-CSF doses given, however, was significantly less in the delayed group: 6.7 ± 0.6 compared to 10.5 ± 0.6 doses in the standard group (p < 0.0001). Our data show that a delayed administration of post chemotherapy G-CSF resulted in a significant reduction in the number of G-CSF injections without compromising the G-CSF effects on neutrophil recovery.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Fator Estimulador de Colônias de Granulócitos/administração & dosagem , Neoplasias/tratamento farmacológico , Neutropenia/complicações , Neutrófilos/metabolismo , Adolescente , Carcinoma/tratamento farmacológico , Criança , Neoplasias do Plexo Corióideo/tratamento farmacológico , Estudos Cross-Over , Esquema de Medicação , Feminino , Humanos , Infecções/complicações , Contagem de Leucócitos , Leucocitose/tratamento farmacológico , Masculino , Meduloblastoma/tratamento farmacológico , Neutrófilos/efeitos dos fármacos , Osteossarcoma/tratamento farmacológico , Estudos Prospectivos , Fatores de Tempo
5.
J Pediatr Hematol Oncol ; 40(7): 560-562, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-28991131

RESUMO

Chemotherapy-associated myelosuppression and renal dysfunction is not uncommon during childhood acute lymphoblastic leukemia (ALL) therapy. Here we report 2 cases of atypical hemolytic uremic syndrome (aHUS) presenting with pancytopenia and renal dysfunction that developed during maintenance chemotherapy characterized by hypocomplementemia. Both cases experienced recurrence after resolution of the initial aHUS episode upon resumption of chemotherapy, raising a possible contributory role for chemotherapy in the disease pathogenesis.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/induzido quimicamente , Quimioterapia de Manutenção/efeitos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Antineoplásicos/efeitos adversos , Criança , Humanos , Nefropatias/induzido quimicamente , Quimioterapia de Manutenção/métodos , Pancitopenia/induzido quimicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Recidiva
7.
Pediatr Blood Cancer ; 62(1): 163-5, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25263768

RESUMO

Tumor biopsy is rarely performed in diffuse intrinsic pontine glioma (DIPG) due to the presumed risk of surgical complications, although data on the surgery related morbidity of DIPG biopsy is sparse. We performed a retrospective review on 22 consecutive cases of DIPG diagnosed from 2002 to 2012 at Children's Hospital of Michigan, 15 of which underwent biopsy. Transient new or worsening neurological deficits were observed in three of 15 cases following surgery. No surgery related mortality or permanent deficit was observed, and the mean overall survival was 10.4 ± 3.8 months. Undergoing biopsy did not adversely affect the outcome.


Assuntos
Neoplasias do Tronco Encefálico/cirurgia , Glioma/cirurgia , Adolescente , Biópsia , Neoplasias do Tronco Encefálico/diagnóstico , Neoplasias do Tronco Encefálico/mortalidade , Criança , Pré-Escolar , Diagnóstico por Imagem , Feminino , Seguimentos , Glioma/diagnóstico , Glioma/mortalidade , Humanos , Lactente , Masculino , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida
8.
Pediatr Radiol ; 44(2): 234-8, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24091923

RESUMO

We describe the case of a 9-year-old boy with encephalitis associated with histiocytic necrotizing lymphadenitis (HNL), also known as Kikuchi-Fujimoto disease. The child presented with unilateral cervical lymphadenopathy and fever that evolved to encephalitis in 3 weeks. Brain MRI showed bilateral temporal lobe hyperintense signal on T2 and FLAIR, hyperintense FLAIR signal in the periaqueductal gray matter, medial walls of the third ventricle, and mammillary bodies, multiple diffusion restriction foci in a central perivascular distribution and central perivascular enhancement. The perivascular distribution and nodularity of the diffusion restriction seen in this case has not been previously reported in HNL encephalitis.


Assuntos
Encefalite/etiologia , Encefalite/patologia , Linfadenite Histiocítica Necrosante/complicações , Linfadenite Histiocítica Necrosante/patologia , Imageamento por Ressonância Magnética/métodos , Criança , Diagnóstico Diferencial , Humanos , Masculino
9.
Pediatr Neurol ; 47(3): 162-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22883279

RESUMO

External beam radiotherapy has proven effective in managing intracranial germinoma. However, concerns regarding long-term neurocognitive and endocrine sequelae led to the addition of chemotherapy, to reduce radiation target volumes. There is a paucity of data on patterns of failure in patients treated with differing radiation field sizes. We review our experience at a tertiary children's hospital treating children with intracranial germinoma, using induction chemotherapy followed by radiation therapy to various treatment volumes (craniospinal irradiation, whole ventricular irradiation, whole brain radiation therapy, and focal radiotherapy). Ten patients with primary intracranial germinoma, treated from November 1995-March 2011, were included. The primary treatment involved platinum-based chemotherapy, followed by definitive radiotherapy. The median follow-up period was 4.3 years (range, 0.75-13.25 years). The 5-year overall survival for the entire group was estimated at 85.7%, and the 5-year disease-free survival was estimated at 75.0%. Two treatment failures occurred at 5 and 28 months, both in patients with single lesions in the pineal region treated with focal radiotherapy only. Based on the patterns of failure, our outcomes support the continued use of the whole ventricular field vs a focal field, even in patients with limited disease who demonstrate a complete response to neoadjuvant chemotherapy.


Assuntos
Neoplasias Encefálicas/terapia , Quimiorradioterapia/métodos , Germinoma/terapia , Terapia Neoadjuvante/métodos , Adolescente , Neoplasias Encefálicas/patologia , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/terapia , Quimiorradioterapia/efeitos adversos , Criança , Intervalo Livre de Doença , Feminino , Seguimentos , Germinoma/patologia , Humanos , Estimativa de Kaplan-Meier , Masculino , Terapia Neoadjuvante/efeitos adversos , Pinealoma/patologia , Pinealoma/terapia , Doses de Radiação , Terapia de Salvação , Análise de Sobrevida , Falha de Tratamento , Resultado do Tratamento , Adulto Jovem
10.
J Pediatr Hematol Oncol ; 33(4): e156-9, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21516014

RESUMO

Primary cutaneous anaplastic large cell lymphoma with local lymph node involvement was diagnosed in a 13-year-old boy with an ulcerative facial lesion and a history of skin lesions of lymphomatoid papulosis. The tumor regressed with chemotherapy. He continued to develop recurrent self-limited lesions of lymphomatoid papulosis , with a halo surrounding these lesions during the healing phase. He developed selective immunoglobulin M deficiency with decline in levels even 4 years after the chemotherapy with no recurrent infections noted and adequate IgG response to immunizations. Both peripheral blood IgM+ and memory B cells were low, suggesting a possible cause-effect relationship between selective immunoglobulin M deficiency and chronic CD30+ cutaneous lymphoproliferative disorders.


Assuntos
Imunoglobulina M/deficiência , Antígeno Ki-1/metabolismo , Linfoma Anaplásico Cutâneo Primário de Células Grandes/imunologia , Neoplasias Cutâneas/imunologia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Faciais/tratamento farmacológico , Neoplasias Faciais/imunologia , Neoplasias Faciais/patologia , Humanos , Memória Imunológica/imunologia , Linfoma Anaplásico Cutâneo Primário de Células Grandes/tratamento farmacológico , Linfoma Anaplásico Cutâneo Primário de Células Grandes/patologia , Masculino , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/imunologia , Recidiva Local de Neoplasia/patologia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia
11.
Am J Hematol ; 83(1): 34-40, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17696201

RESUMO

To evaluate the outcome of children with high hyperdiploid acute lymphoblastic leukemia (hHDALL) treated at the author's institution. One hundred thirty-five consecutive children with B-precursor ALL were diagnosed between 1991 and 2002: 38 (28.1%) hHDALL and 97 (71.9%) non-hHDALL. In the hHDALL group, 11/38 (28.9%) relapsed at a median interval of 2.8 years (range: 0.8-5.0 years) with 9/11 relapses occurring at the end or after the completion of therapy. Three (27.3%) relapses were isolated hematopoietic (BM), while eight (72.7%) were either isolated extramedullary (EM) relapses (n=6; Testis: 4; CNS: 2) or combined hematopoietic and extramedullary relapses (n=2; BM + CNS: 1; BM + Testis: 1). For the non-hHDALL group, 29/97 (29.9%) relapsed. Unlike the hHDALL group, the non-hHDALL group experienced hematopoietic relapses (62%; n=18) more frequently than isolated extramedullary (27.5%; n=8: Testis: 1; CNS: 7) or combined hematopoietic and extramedullary relapses (10.3%; CNS + BM: 3), with 24/29 (82.8%) of the relapses occurring on therapy. Relapses in hHDALL frequently involved EM sites (P=0.053). Presence of triple trisomy of +4,+10,+17 at diagnosis had a protective effect against relapse (P<0.05). Five-year EFS for the hHDALL and non-hHDALL patients was similar, 70.5+/-7.5% and 66.4+/-4.9%, respectively. Five-year OS for the hHDALL patients was significantly higher than for the non-hHDALL patients, 92+/-4.5% vs. 74.1+/-4.5%, P=0.038. Biologically significant differences exist between relapse patterns of hHDALL and non-hHDALL cases related to relapse sites and time periods when relapses occur. hHDALL relapses continue to be chemo-sensitive.


Assuntos
Aneuploidia , Cromossomos Humanos/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Recidiva , Taxa de Sobrevida
12.
Mol Imaging Biol ; 9(3): 106-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17318667

RESUMO

PURPOSE: To report the utility of positron emission tomography (PET) with alpha-[(11)C]methyl-L-tryptophan (AMT) for monitoring progression and response to treatment of an isolated optic pathway glioma (OPG) in a 16-year-old girl. PROCEDURES: Positron emission tomography scanning of the brain was performed 20 minutes after intravenous administration of AMT. The AMT-PET images were reconstructed and examined for tumor uptake of the tracer in correlation with coregistered magnetic resonance images. RESULTS: The PET scan demonstrated increased uptake of AMT by OPG in a clinically symptomatic child whose magnetic resonance imaging (MRI) was inconclusive for morphological changes of the tumor. The tracer uptake was dramatically decreased on the images obtained after chemotherapy. Subsequently, AMT-PET revealed a new tumor lesion of increased AMT uptake when the patient developed vision problems and MRI showed no significant interval morphological changes. Significant vision improvement was observed after external beam radiotherapy for the newly identified tumor lesion. CONCLUSIONS: Positron emission tomography with alpha-[(11)C]methyl-L-tryptophan may be useful for monitoring progression and response to treatment of OPGs, which needs to be further investigated in a prospective study of more patients, including those with neurofibromatosis.


Assuntos
Radioisótopos de Carbono , Glioma do Nervo Óptico/diagnóstico por imagem , Tomografia por Emissão de Pósitrons/métodos , Compostos Radiofarmacêuticos , Triptofano/análogos & derivados , Adolescente , Feminino , Humanos , Imageamento por Ressonância Magnética , Glioma do Nervo Óptico/patologia , Glioma do Nervo Óptico/terapia
13.
Pediatr Blood Cancer ; 48(2): 227-9, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16425244

RESUMO

Abundant cytoplasmic vacuolation of neuroblasts has been noted on bone marrow aspirate (BMA) smears of two patients with metastatic neuroblastoma. Occasional tumor cells were dispersed as individual cells as well as in clumps. These cells had basophilic cytoplasm and several nucleoli, reminiscent of L(3) lymphoblast morphology. Flow cytometric analysis of the bone marrow mononuclear cells and neuron-specific enolase staining of the bone marrow biopsy samples further distinguished the cells as neuroblasts. Cytoplasmic vacuolations of neuroblasts may be a feature of metastatic neuroblastoma cells in BMA smears.


Assuntos
Neoplasias das Glândulas Suprarrenais/patologia , Células da Medula Óssea/patologia , Neuroblastoma/patologia , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Masculino , Metástase Neoplásica/patologia , Fosfopiruvato Hidratase/análise , Vacúolos/patologia
14.
Pediatr Blood Cancer ; 49(6): 812-6, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17171687

RESUMO

BACKGROUND: Anthracyclines (AC) are useful antineoplastic agents, whose utility is limited by progressive cardiotoxicity. Our purpose was to evaluate plasma B-type natriuretic peptide (BNP), as a screening test for detecting late cardiac dysfunction in AC-treated children and to determine the prevalence of late cardiac dysfunction at low cumulative AC doses. MATERIALS AND METHODS: This was a prospective study in which patients who had completed AC therapy at least 1 year earlier, underwent a detailed echocardiogram and a simultaneous BNP level. Cardiac dysfunction was defined as any one of the following: shortening fraction (FS) <29%, rate corrected velocity of circumferential fiber shortening (VCFc) <0.9 c x sec(-1), end systolic wall stress (ESWS) >60 g x cm(-2), abnormal VCFc: ESWS ratio or decreased mitral inflow velocity (E/A) ratios, compared to age-specific norms. RESULTS: The cohort (n = 63) included 37 males with a median age of 13.1 years (range, 6.5-26.5 years). Cardiac dysfunction was found in 26 (41%) patients and in 40% of patients who received cumulative doses <150 mg x m(-2). ESWS was the most common abnormality. Mean BNP levels in the subset with abnormal function were significantly higher than the normal group (23.4 +/- 25.3 vs. 14.2 +/- 8.9 pg x ml(-1), P = 0.02). CONCLUSIONS: Plasma BNP was significantly elevated in AC-treated patients with late cardiac dysfunction, although there was considerable overlap of levels between groups with and without cardiac dysfunction. BNP may need further evaluation as a serial index of cardiac function in this population. Cardiac dysfunction was observed in a significant proportion of patients, even at low cumulative AC doses.


Assuntos
Antraciclinas/efeitos adversos , Antibióticos Antineoplásicos/efeitos adversos , Cardiopatias/sangue , Peptídeo Natriurético Encefálico/sangue , Adolescente , Adulto , Antraciclinas/uso terapêutico , Antibióticos Antineoplásicos/uso terapêutico , Biomarcadores/sangue , Criança , Relação Dose-Resposta a Droga , Ecocardiografia , Feminino , Seguimentos , Cardiopatias/induzido quimicamente , Cardiopatias/diagnóstico , Humanos , Masculino , Estudos Prospectivos
16.
Cancer Genet Cytogenet ; 154(2): 167-8, 2004 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-15474155

RESUMO

The t(1;22)(p13;q13) is associated with acute megakaryoblastic leukemia (AMKL) seen mostly in young infants and known to have a poor prognosis. A 5-year-old child had prolonged prothrombin and partial thromboplastin times, low albumin, and decreased vitamin K-dependent coagulation factors and factor V activities at the time of AMKL diagnosis. All of these factors normalized following chemotherapy when remission was achieved. Cytogenetic analysis revealed a female karyotype with a balanced t(17;22)(q21;q13). Here, we present an AMKL pediatric case with a novel translocation and significant hepatocellular dysfunction that resolved with chemotherapy. The t(17;22) (q21;q13) may represent a variant of t(1;22)(p13;q13).


Assuntos
Cromossomos Humanos Par 17 , Cromossomos Humanos Par 22 , Leucemia Megacarioblástica Aguda/genética , Hepatopatias/complicações , Translocação Genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Feminino , Humanos , Cariotipagem , Leucemia Megacarioblástica Aguda/tratamento farmacológico
17.
J Pediatr Hematol Oncol ; 26(2): 108-11, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14767198

RESUMO

The authors report a fatal outcome in a 4-year-old boy with herpes simplex virus (HSV) pneumonia and ependymoma. The patient had respiratory distress that worsened despite antibiotic treatment. Bronchoalveolar lavage showed intranuclear viral inclusions, and culture was positive for HSV type 1. His T-cell count was significantly decreased. Although acyclovir and foscarnet were given, the patient died. Postmortem examination showed HSV pneumonitis with severe alveolar damage and severe involutional changes of the thymus with absence of Hassall's corpuscles. HSV must be considered in the differential diagnosis of patients with interstitial pneumonia and T-cell deficiency, especially after craniospinal irradiation.


Assuntos
Neoplasias Encefálicas/patologia , Ependimoma/patologia , Herpes Simples/diagnóstico , Herpesvirus Humano 1/isolamento & purificação , Pneumonia Viral/diagnóstico , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Pré-Escolar , Quimioterapia Combinada , Ependimoma/tratamento farmacológico , Evolução Fatal , Foscarnet/uso terapêutico , Herpes Simples/tratamento farmacológico , Humanos , Imunidade Celular , Masculino , Recidiva Local de Neoplasia , Pneumonia Viral/tratamento farmacológico , Linfócitos T/metabolismo
18.
Pediatr Hematol Oncol ; 20(8): 617-25, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14578032

RESUMO

The standardized incidence ratios (SIR) and cumulative incidence rates were determined for developing second malignant neoplasms (SMNs) after primary central nervous system (CNS) malignancies occurring during childhood using registry data. A total of 4553 cases of primary CNS malignancies were identified. Forty-six cases developed SMNs, 19 occurring in a previously radiated field. The SIRs of developing second malignant neoplasms were 6.3 and 3.1 for those cases receiving and not receiving radiation therapy, respectively. The 20-year cumulative incidences for developing SMNs were 3.3 and 1.2% for cases receiving and not receiving radiation therapy, respectively. Children surviving CNS malignancies have an increased susceptibility for SMNs.


Assuntos
Neoplasias do Sistema Nervoso Central/epidemiologia , Segunda Neoplasia Primária/epidemiologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Fatores de Risco , Programa de SEER , Fatores Sexuais , Estados Unidos/epidemiologia
19.
J Pediatr Hematol Oncol ; 25(3): 248-51, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12621246

RESUMO

A 3-year-old child with microcephaly, facial dysmorphism, growth retardation, and developmental delay was diagnosed with medulloblastoma. Craniospinal irradiation resulted in severe radiation-induced dermatitis and gastroesophagitis, unresponsive to further medical therapy. Colony survival assay on the patient's transformed lymphocytes revealed a high degree of radiosensitivity ex vivo. The presence of radiation sensitivity, both clinically and ex vivo, in association with microcephaly and growth retardation, prompted a diagnostic workup for Nijmegen breakage syndrome. The patient was confirmed to have a compound heterozygote genotype for the common founder mutation of NBS1 675del5 in exon 6, and 1142delC in exon 10. Because irradiation is an important component of therapy for brain tumors, caution should be exercised in cancer patients with associated microcephaly and growth retardation, as they may turn out to have the rare diagnosis of Nijmegen breakage syndrome.


Assuntos
Neoplasias Cerebelares/radioterapia , Quebra Cromossômica , Transtornos Cromossômicos/complicações , Meduloblastoma/radioterapia , Radioterapia/efeitos adversos , Pré-Escolar , Face/anormalidades , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/genética , Masculino
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