RESUMO
BACKGROUND: Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient. CASE PRESENTATION: A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient: KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients. CONCLUSIONS: Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.
Assuntos
Anormalidades Múltiplas/genética , Genes ras/genética , Nevo Sebáceo de Jadassohn/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias Cutâneas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Exotropia/etiologia , Feminino , Heterogeneidade Genética , Neoplasias de Cabeça e Pescoço/congênito , Neoplasias de Cabeça e Pescoço/genética , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Anormalidades Maxilomandibulares/genética , Aparelho Lacrimal/anormalidades , Nevo Sebáceo de Jadassohn/congênito , Nevo Sebáceo de Jadassohn/patologia , Proteínas Proto-Oncogênicas p21(ras)/fisiologia , Proteínas de Ligação a RNA/genética , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologia , Neoplasias Torácicas/congênito , Neoplasias Torácicas/genética , Neoplasias Torácicas/patologia , Sequenciamento do ExomaRESUMO
Spindle cell and sclerosing rhabdomyosarcoma (ssRMS) is a rare variant of rhabdomyosarcoma, which includes three distinct subtypes. In infants, these tumors are commonly associated with recurring fusions involving VGLL2 or NCOA2 and have a favorable prognosis. We present four cases of ssRMS and 16 additional cases from the literature, which show that these patients present with localized disease and have an excellent prognosis regardless of surgical margin or lack of radiation therapy. Molecularly defined spindle cell rhabdomyosarcoma in infants is likely a biologically distinct entity which may not require the aggressive multimodal treatment used for other subtypes of rhabdomyosarcoma.
Assuntos
Rabdomiossarcoma Embrionário/congênito , Neoplasias de Tecidos Moles/congênito , Amputação Cirúrgica , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante , Terapia Combinada , Ciclofosfamida/administração & dosagem , Dactinomicina/administração & dosagem , Extremidades/patologia , Feminino , Doenças do Pé/congênito , Doenças do Pé/tratamento farmacológico , Doenças do Pé/genética , Doenças do Pé/cirurgia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/tratamento farmacológico , Doenças do Prematuro/genética , Doenças do Prematuro/cirurgia , Masculino , Coativador 2 de Receptor Nuclear , Proteínas de Fusão Oncogênica/genética , Indução de Remissão , Rabdomiossarcoma Embrionário/tratamento farmacológico , Rabdomiossarcoma Embrionário/genética , Rabdomiossarcoma Embrionário/cirurgia , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/cirurgia , Fatores de Transcrição de Domínio TEA , Coxa da Perna , Neoplasias Torácicas/congênito , Neoplasias Torácicas/tratamento farmacológico , Neoplasias Torácicas/genética , Neoplasias Torácicas/cirurgia , Parede Torácica/patologia , Vincristina/administração & dosagemRESUMO
Massive intrathoracic lipomas are uncommon. Few cases have been reported worldwide. We report two cases, one of which was congenital. They were managed by thoracotomy and complete excision, with excellent outcomes.
Assuntos
Lipoma/diagnóstico , Neoplasias Torácicas/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Humanos , Lipoma/congênito , Lipoma/diagnóstico por imagem , Lipoma/patologia , Lipoma/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Torácicas/congênito , Neoplasias Torácicas/diagnóstico por imagem , Neoplasias Torácicas/patologia , Neoplasias Torácicas/cirurgia , Tórax , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVES: To evaluate the fetal magnetic resonance imaging findings of lymphangiomas. METHODS: The magnetic resonance scans of eight fetuses with lymphangiomas were evaluated. Magnetic resonance evaluation included: number; size; signal intensities of the lesions; thickness of the septae; configuration of the margins; presence of blood breakdown products; change in size or signal intensity (in four patients with multiple examinations); exact expansion of the lesions to the adjacent anatomical structures; and concomitant pathological findings. Results were compared with postpartum clinical assessment and imaging in seven patients and with autopsy in one patient. RESULTS: Two retroperitoneal, three thoracic, and three cervical lymphangiomas (diameters between 3.3 and 15.6 cm) were included. All lesions consisted of macrocysts, and additional microcystic parts were found in three lymphangiomas. Blood breakdown products were found in one lesion. Agreement with postpartum imaging was excellent. One patient received intrauterine drainage for chylothorax, and one pregnancy was terminated. CONCLUSIONS: Fetal lymphangiomas display the same magnetic resonance imaging features as postnatal lymphangiomas. Intrauterine magnetic resonance characterization of lymphangiomas provides the exact delineation, detection of associated and/or concomitant pathologies, and differential diagnosis among other cystic pathologies. Patient management may be altered with respect to the type and/or time of treatment, and with regard to the continuation or termination of pregnancy.
Assuntos
Linfangioma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Feminino , Neoplasias de Cabeça e Pescoço/congênito , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/terapia , Humanos , Recém-Nascido , Linfangioma/congênito , Linfangioma/terapia , Masculino , Gravidez , Resultado da Gravidez , Neoplasias Retroperitoneais/congênito , Neoplasias Retroperitoneais/diagnóstico , Neoplasias Retroperitoneais/terapia , Estudos Retrospectivos , Neoplasias Torácicas/congênito , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/terapiaAssuntos
Diagnóstico por Imagem , Doenças Torácicas/diagnóstico , Parede Torácica , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , Síndrome , Doenças Torácicas/congênito , Neoplasias Torácicas/congênito , Neoplasias Torácicas/diagnóstico , Parede Torácica/anormalidadesAssuntos
Braço , Neoplasias de Cabeça e Pescoço/congênito , Processamento de Imagem Assistida por Computador , Linfangioma Cístico/congênito , Imageamento por Ressonância Magnética , Síndrome de Proteu/diagnóstico , Neoplasias de Tecidos Moles/congênito , Neoplasias Torácicas/congênito , Ultrassonografia Pré-Natal , Diagnóstico Diferencial , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico , Humanos , Recém-Nascido , Linfangioma Cístico/diagnóstico , Masculino , Gravidez , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias Torácicas/diagnóstico , Dedos do Pé/anormalidades , Adulto JovemRESUMO
We report on the case of a female twin with congenital thoracic neuroblastoma after conception via intracytoplasmatic sperm injection (ICSI). Birth occurred at 37 + 1-week gestation per primary sectio caesarea. Acute respiratory distress necessitated intubation and mechanical ventilation. Ultrasound and magnetic resonance imaging (MRI) showed a mass in the right upper thorax compressing the trachea. The tumor was subtotally excised and histological analysis revealed neuroblastoma. No further treatment was given. The residual primary tumor regressed spontaneously. Four years after diagnosis, both twins are healthy and normally developed.
Assuntos
Doenças em Gêmeos , Neuroblastoma/congênito , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Injeções de Esperma Intracitoplásmicas , Neoplasias Torácicas/congênito , Gêmeos Dizigóticos , Adulto , Feminino , Amplificação de Genes , Genes myc , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Neoplasia Residual , Neuroblastoma/complicações , Neuroblastoma/diagnóstico por imagem , Neuroblastoma/genética , Neuroblastoma/cirurgia , Gravidez , Cintilografia , Remissão Espontânea , Injeções de Esperma Intracitoplásmicas/efeitos adversos , Neoplasias Torácicas/complicações , Neoplasias Torácicas/diagnóstico por imagem , Neoplasias Torácicas/genética , Neoplasias Torácicas/cirurgia , Toracotomia , UltrassonografiaRESUMO
Giant congenital melanocytic nevi (CMN) are rare, congenital, disfiguring lesions with a risk of degeneration to malignant melanoma. Giant CMN are associated with an increased risk of malignant degeneration. In a minority of cases, patients with giant CMN may have associated neurocutaneous melanosis with leptomeningeal involvement. Giant CMN of the trunk pose difficult diagnostic and reconstructive problems requiring complex multistage treatment. For high-risk cases, diagnostic evaluation in the form of neuro-imaging is an essential component of the planning phase. Although nonsurgical options for the treatment of giant CMN have been advocated, these modalities may decrease the burden of nevus cells but do not result in complete removal of these cells. The ability to monitor nevus cells that remain after nonsurgical management of giant CMN remains questionable. These nonsurgical options include dermabrasion, laser ablation, and chemical peel. In contrast, direct excision of the nevus is the mainstay of treatment of nonsurgical management of giant CMN. There are numerous surgical options to resurface the resultant cutaneous defect after excision of the nevus. The simplest of these options consists of serial excision and direct closure of the defect in stages. However, if the defect cannot be closed by direct cutaneous advancement, other options for wound resurfacing include split- or full-thickness skin graft, tissue expansion, and free tissue transfer. Tissue expansion should be viewed as a category of treatment options because expanders can be used to create an expanded full-thickness skin graft, local expanded flaps adjacent to the lesion, or expansion of a free tissue donor site. Given the diversity of reconstructive options that use tissue expansion, these techniques have evolved as the primary treatment method for giant CMN of the trunk. The authors outline an approach to the evaluation of giant CMN of the trunk, review the risks of melanoma and of neurocutaneous melanosis, describe their preferred treatment regimen, and offer a treatment algorithm for giant CMN of the trunk.
Assuntos
Algoritmos , Nevo Pigmentado/congênito , Neoplasias Cutâneas/congênito , Neoplasias Torácicas/congênito , Transformação Celular Neoplásica/patologia , Abrasão Química , Dermabrasão , Feminino , Humanos , Lactente , Terapia a Laser , Imageamento por Ressonância Magnética , Melanoma/patologia , Melanose/patologia , Síndromes Neurocutâneas/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/cirurgia , Planejamento de Assistência ao Paciente , Procedimentos de Cirurgia Plástica , Fatores de Risco , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/cirurgiaRESUMO
INTRODUCTION: Kaposiform hemangioendothelioma (KHE) is a rare, frequently congenital, neoplasm associated with the Kasabach-Merritt phenomenon (KMP) and predilection for the trunk. Its clinical course is unpredictable. A child with KHE can die as a result of hemorrhage or show early spontaneous regression. In addition various and concurrent therapies can be used to treat this tumor and it is difficult to predict which treatment will be successful. MATERIAL, METHODS AND RESULTS: We present four consecutive cases of KHE (larger than 20 cm) of the thorax. All patients developed KMP, without skin involvement in one patient. Patient 1, a neonate with KHE occupying both hemithoraces (nearly 50% of the body surface area), died shortly after birth due to coagulopathy and generalized bleeding. Patient 2, a neonate, was treated with interferon alpha-2a and showed accelerated correction of coagulopathy and complete tumoral regression at 9 months. Patient 3 showed no response to steroids, interferon or vincristine therapy. Thrombocytopenia (platelet count 40,000) persisted for 8 years and was resolved by administration of aspirin plus ticlopidine, without tumoral disappearance. Patient 4 underwent incomplete removal of the tumor on her right chest wall after showing no response to antiangiogenic therapy. The coagulopathy persisted and a second radical surgical procedure resolved KMP. CONCLUSION: Given the variable response to pharmacological treatment and the scant possibilities of surgical resection, the management of KHE with KMP must include a multidisciplinary approach. As little is known about the pathogenesis of these highly aggressive vascular tumors, further molecular research is needed to understand their long-term behavior.
Assuntos
Hemangioendotelioma , Neoplasias Torácicas , Antineoplásicos/uso terapêutico , Evolução Fatal , Hemangioendotelioma/congênito , Hemangioendotelioma/tratamento farmacológico , Hemangioendotelioma/fisiopatologia , Hemangioendotelioma/cirurgia , Humanos , Lactente , Recém-Nascido , Interferon alfa-2 , Interferon-alfa/uso terapêutico , Proteínas Recombinantes , Sarcoma de Kaposi , Síndrome , Neoplasias Torácicas/congênito , Neoplasias Torácicas/tratamento farmacológico , Neoplasias Torácicas/fisiopatologia , Neoplasias Torácicas/cirurgia , Trombocitopenia/etiologiaRESUMO
Introducción. El hemangioendotelioma kaposiforme (HEK) es un raro tumor con frecuencia neonatal y asociado a coagulopatía de Kasabach-Merritt con preferencia por la localización en tórax y abdomen. Su evolución clínica es impredecible y puede causar la muerte por coagulopatía o evolucionan de forma rápida y espontánea. Por otra parte, no existe un tratamiento uniformemente eficaz con respuesta variable en cada caso a los diferentes agentes farmacológicos. Material, método y resultados. Se presentan 4 casos consecutivos de HEK de gran tamaño (> 20 cm) que afectaban al tórax y desarrollando trombocitopenia grave. En un paciente no había afectación cutánea. En el primer caso, un recién nacido con HEK que ocupaba todo el tórax y el abdomen (aproximadamente el 50 % de superficie corporal) falleció a las pocas horas de nacer por coagulopatía y hemorragia generalizada. El segundo recién nacido fue tratado con interferón α2a y experimentó una rápida resolución de la coagulopatía y una involución tumoral completa en 9 meses. El tercer paciente no respondió a los corticoides, el interferón y la vincristina y permaneció 8 años con trombocitopenia (40.000 plaquetas), la cual se resolvió con la administración de ácido acetilsalicílico y ticlopidina aun sin la desaparición del tumor. El cuarto paciente fue intervenido quirúrgicamente, por falta de respuesta antiangiogénica, mediante resección incompleta de la tumoración. La persistencia de la coagulopatía obligó a la extirpación radical de parte de la pared torácica en una segunda intervención. Conclusión. Dada la variable respuesta farmacológica y las escasas posibilidades de extirpación quirúrgica, el HEK que provoca coagulopatía de Kasabach-Merritt debe ser tratado en el contexto de un equipo multidisciplinar. Sólo los avances en el conocimiento de la biología molecular de la angiogénesis ayudarán a predecir el comportamiento de estos tumores a largo plazo
Introduction. Kaposiform hemangioendothelioma (KHE) is a rare, frequently congenital, neoplasm associated with the Kasabach-Merritt phenomenon (KMP) and predilection for the trunk. Its clinical course is unpredictable. A child with KHE can die as a result of hemorrhage or show early spontaneous regression. In addition various and concurrent therapies can be used to treat this tumor and it is difficult to predict which treatment will be successful. Material, methods and results. We present four consecutive cases of KHE (larger than 20 cm) of the thorax. All patients developed KMP, without skin involvement in one patient. Patient 1, a neonate with KHE occupying both hemithoraces (nearly 50 % of the body surface area), died shortly after birth due to coagulopathy and generalized bleeding. Patient 2, a neonate, was treated with interferon α -2a and showed accelerated correction of coagulopathy and complete tumoral regression at 9 months. Patient 3 showed no response to steroids, interferon or vincristine therapy. Thrombocytopenia (platelet count 40,000) persisted for 8 years and was resolved by administration of aspirin plus ticlopidine, without tumoral disappearance. Patient 4 underwent incomplete removal of the tumor on her right chest wall after showing no response to antiangiogenic therapy. The coagulopathy persisted and a second radical surgical procedure resolved KMP. Conclusion. Given the variable response to pharmacological treatment and the scant possibilities of surgical resection, the management of KHE with KMP must include a multidisciplinary approach. As little is known about the pathogenesis of these highly aggressive vascular tumors, further molecular research is needed to understand their long-term behavior
Assuntos
Recém-Nascido , Lactente , Humanos , Hemangioendotelioma/congênito , Hemangioendotelioma/tratamento farmacológico , Hemangioendotelioma/fisiopatologia , Hemangioendotelioma/cirurgia , Neoplasias Torácicas/congênito , Neoplasias Torácicas/tratamento farmacológico , Neoplasias Torácicas/fisiopatologia , Neoplasias Torácicas/cirurgia , Antineoplásicos , Evolução Fatal , Interferon alfa-2/uso terapêutico , Sarcoma de Kaposi , Síndrome , Trombocitopenia/etiologiaRESUMO
The accurate diagnosis of fetal thoracic tumors still remains unclear despite the progress in imaging technology. The differential diagnosis between tumors and congenital anomalies of the fetus respiratory system, largely depends on the diagnostic approaches involved. We report a case of a 25-year-old woman, gravida 3 para 0, who was seen at the 23rd gestational week for routine obstetric examination. The ultrasound scan detected a lung mass, occupying the whole left hemithorax with a significant shifting of the mediastinum exhibiting features compatible with cystic adenomatoid malformation (CAM). No other congenital anomalies were noted. Color Doppler ultrasound failed to detect any blood supply to the mass. Amniocentesis disclosed a normal male karyotype. Pregnancy termination was performed according to the parents' request, with the use of misoprostol and a 500 g dead fetus was delivered. The autopsy followed by detailed histological examination, disclosed the diagnosis of pulmonary sequestration. It is important to emphasize that the initial impression concerning the sonographic appearance and the size of the mass is not always in accordance with the diagnosis of the lesion and the outcome of the pregnancy. These data suggest that in cases of fetal pulmonary tumors, a thorough and comprehensive combination of imaging approaches should be employed followed by a pathologic examination of the congenital anomaly in order to establish a definitive diagnosis.
Assuntos
Sequestro Broncopulmonar/diagnóstico , Ultrassonografia Pré-Natal , Aborto Induzido , Adulto , Autopsia , Sequestro Broncopulmonar/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Neoplasias Torácicas/congênito , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/diagnóstico por imagemAssuntos
Fibrossarcoma/congênito , Fibrossarcoma/tratamento farmacológico , Neoplasias Torácicas/congênito , Neoplasias Torácicas/tratamento farmacológico , Feminino , Fibrossarcoma/patologia , Fibrossarcoma/cirurgia , Humanos , Recém-Nascido , Cuidados Pré-Operatórios , Neoplasias Torácicas/patologia , Neoplasias Torácicas/cirurgiaAssuntos
Linfangioma Cístico/diagnóstico , Diagnóstico Pré-Natal , Neoplasias Torácicas/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/patologia , Humanos , Recém-Nascido , Linfangioma Cístico/congênito , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/patologia , Linfangioma Cístico/cirurgia , Imageamento por Ressonância Magnética , Gravidez , Terceiro Trimestre da Gravidez , Neoplasias Torácicas/congênito , Neoplasias Torácicas/diagnóstico por imagem , Neoplasias Torácicas/patologia , Neoplasias Torácicas/cirurgia , UltrassonografiaAssuntos
Doenças Fetais/diagnóstico por imagem , Fibrossarcoma/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias Torácicas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Axila , Diagnóstico Diferencial , Feminino , Fibrossarcoma/congênito , Humanos , Gravidez , Neoplasias Torácicas/congênito , Ultrassonografia Doppler em Cores , Ultrassonografia Doppler de PulsoRESUMO
Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies.