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1.
Elife ; 112022 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-35787784

RESUMO

Background: Lymphatic malformations (LMs) often pose treatment challenges due to a large size or a critical location that could lead to disfigurement, and there are no standardized treatment approaches for either refractory or unresectable cases. Methods: We examined the genomic landscape of a patient cohort of LMs (n = 30 cases) that underwent comprehensive genomic profiling using a large-panel next-generation sequencing assay. Immunohistochemical analyses were completed in parallel. Results: These LMs had low mutational burden with hotspot PIK3CA mutations (n = 20) and NRAS (n = 5) mutations being most frequent, and mutually exclusive. All LM cases with Kaposi sarcoma-like (kaposiform) histology had NRAS mutations. One index patient presented with subacute abdominal pain and was diagnosed with a large retroperitoneal LM harboring a somatic PIK3CA gain-of-function mutation (H1047R). The patient achieved a rapid and durable radiologic complete response, as defined in RECIST1.1, to the PI3Kα inhibitor alpelisib within the context of a personalized N-of-1 clinical trial (NCT03941782). In translational correlative studies, canonical PI3Kα pathway activation was confirmed by immunohistochemistry and human LM-derived lymphatic endothelial cells carrying an allele with an activating mutation at the same locus were sensitive to alpelisib treatment in vitro, which was demonstrated by a concentration-dependent drop in measurable impedance, an assessment of cell status. Conclusions: Our findings establish that LM patients with conventional or kaposiform histology have distinct, yet targetable, driver mutations. Funding: R.P. and W.A. are supported by awards from the Levy-Longenbaugh Fund. S.G. is supported by awards from the Hugs for Brady Foundation. This work has been funded in part by the NCI Cancer Center Support Grants (CCSG; P30) to the University of Arizona Cancer Center (CA023074), the University of New Mexico Comprehensive Cancer Center (CA118100), and the Rutgers Cancer Institute of New Jersey (CA072720). B.K.M. was supported by National Science Foundation via Graduate Research Fellowship DGE-1143953. Clinical trial number: NCT03941782.


Assuntos
Antineoplásicos , Classe I de Fosfatidilinositol 3-Quinases , GTP Fosfo-Hidrolases , Linfangioma , Anormalidades Linfáticas , Proteínas de Membrana , Tiazóis , Antineoplásicos/farmacologia , Antineoplásicos/uso terapêutico , Classe I de Fosfatidilinositol 3-Quinases/antagonistas & inibidores , Classe I de Fosfatidilinositol 3-Quinases/genética , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Classe Ia de Fosfatidilinositol 3-Quinase/metabolismo , Células Endoteliais/efeitos dos fármacos , Células Endoteliais/metabolismo , GTP Fosfo-Hidrolases/genética , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Linfangioma/tratamento farmacológico , Linfangioma/genética , Anormalidades Linfáticas/tratamento farmacológico , Anormalidades Linfáticas/genética , Proteínas de Membrana/genética , Mutação , Análise de Sequência de DNA , Tiazóis/farmacologia , Tiazóis/uso terapêutico
2.
J Med Case Rep ; 16(1): 242, 2022 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-35717390

RESUMO

BACKGROUND: Lymphangioma is a rare diagnosis in adult patients and typically presents in early infancy. These tumors are a result of malformation of the lymphatic vessels and usually involve the head, neck, and axilla. CASE PRESENTATION: We report the case of a 28-year-old African female who recently immigrated from East Africa and presented to our surgical breast clinic with a large and rapidly growing left axillary mass. Initial history and evaluation were concerning for hydatid cyst; however, on surgical excision, gross appearance was consistent with cystic lymphangioma. Diagnosis was confirmed on pathology review. CONCLUSIONS: Although lymphangiomas are typically found in young children, adults may develop these tumors in response to unknown triggers. Surgical excision is the preferred treatment.


Assuntos
Equinococose , Linfangioma Cístico , Linfangioma , Adulto , Axila , Criança , Pré-Escolar , Feminino , Humanos , Linfangioma/diagnóstico por imagem , Linfangioma/cirurgia , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/cirurgia , Pescoço
5.
J Indian Soc Pedod Prev Dent ; 40(1): 86-89, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35439889

RESUMO

Oral swellings and ulcers in neonates are a spectrum of diseases often creating a sense of anxiety among parents. Early detection, high index of suspicion, proper investigations, and prompt diagnosis can aid in accurate management of the same. Lymphangiomas are benign hamartomas which are basically malformed lymphatics do not drain into other lymphatics or veins and hence there is lymphatic accumulation and enlargement following cystically dilated spaces. We hereby present a rare case of a neonate born with a cystic mucosal swelling at the upper gingival sulcus since birth.


Assuntos
Linfangioma , Boca , Gengiva , Humanos , Recém-Nascido , Linfangioma/diagnóstico , Linfangioma/cirurgia , Pais
6.
Photodiagnosis Photodyn Ther ; 38: 102797, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35257972

RESUMO

Lymphangioma is a rare benign lymphatic system proliferation, especially in the vulva. The general treatment principle is determined by clinical manifestations, lesion size, anatomic location, and complications. Treatment options include surgical excision, carbon dioxide laser, cryotherapy, electrocoagulation, and sclerosing agent injection. In the absence of evidence to guide the choice of significant treatment modalities, treatment options are often based on the experience of the treatment team and the patient's preferences. This study presents a case of primary vulva lymphangioma circumscriptum treated with fire needle therapy, photodynamic therapy, and cryotherapy. Furthermore, the combination of fire needle and photodynamic therapy demonstrated exceptional comprehensive effects in pain, wound healing and cosmetic.


Assuntos
Linfangioma , Fotoquimioterapia , Neoplasias Vulvares , Feminino , Humanos , Linfangioma/tratamento farmacológico , Fotoquimioterapia/métodos , Triazenos , Vulva/patologia , Vulva/cirurgia , Neoplasias Vulvares/tratamento farmacológico
7.
Ethiop J Health Sci ; 32(1): 209-212, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35250232

RESUMO

BACKGROUND: Lymphangioma is a rare benign tumor of lymphatic system that is often diagnosed in the first few years of life. The presentation and complications depend on the site and the size of the lesion. CLINICAL DESCRIPTION: This was a term male newborn weighing 3230g born to a 38 year old para IIV mother. Delivery was spontaneous and uneventful. The neonate was active, had no gross dysmorphic feature except the huge, 20cm by 28cm cystic, non-tender mass over the left lateral chest area. DIAGNOSIS: Lymphangioma was diagnosed based on chest ultrasound, there was a large multiloculated cystic lesion over left lateral chest, and the cyst had no communication with spinal canal, and had no solid component. THERAPY: The patient was observed for complications, otherwise not needing intervention in the first few days. OUTCOMES: He developed superinfection of the mass, for which intravenous antibiotics administered, infection was controlled and surgery was postponed until a few months. However, the patient was presented with severe malnutrition at the age of three months and subsequently lost to follow up. CONCLUSION: Huge lymphangiomas at neonatal age are likely to get superinfected; a close observation for signs of complications is needed. Though surgical intervention could be postponed until the baby grows to avoid the complications of surgery, adequate counseling is needed to reassure the parents about the benign and treatable nature of the disease. And individualized decision on earlier surgical intervention has to be considered with adequate postoperative care whenever follow up is not guaranteed.


Assuntos
Cistos , Linfangioma Cístico , Linfangioma , Parede Torácica , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Linfangioma/diagnóstico , Linfangioma/patologia , Linfangioma/cirurgia , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/patologia , Linfangioma Cístico/cirurgia , Masculino , Mães , Parede Torácica/patologia
8.
Minerva Pediatr (Torino) ; 74(1): 70-80, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35283478

RESUMO

INTRODUCTION: Lymphatic malformations (LMs) are low-flow lesions resulting from abnormalities in the development of lymphatics. The management of these lesions is complex and involve the collaboration of many specialties. The purpose of this review is to summarize current knowledge regarding the different therapeutic options used in complex lymphatic malformations, analyzing their indications, efficacy and complications. EVIDENCE ACQUISITION: A search was made using the algorithm: "(lymphatic abnormality OR lymphatic malformation OR lymphangioma OR cystic hygroma) AND (extensive OR giant OR complex) AND (therapeutics OR treatment) AND (child OR children)". Of the 120 articles found, 53 were included. EVIDENCE SYNTHESIS: Historically, surgery was the treatment of choice for this type of lesions. However, excision was often incomplete, associated with high rates of recurrence and severe complications. The use of sclerotherapy emerged as a minimal invasive option appropriate in selected cases as a single or adjuvant therapy. Inhibitors of the mammalian target of rapamycin, such as sirolimus, now play a central role in the treatment of complex malformations resistant to sclerotherapy, recurrent after surgery or more extensive malformations that affect vital structures. Other therapeutic options as sildenafil and laser ablation are also recognized as effective in selected cases. CONCLUSIONS: Looking through the literature over the last decade authors realize that surgery had gradually been replaced by less invasive options such as sirolimus with or without adjuvant sclerotherapy. In conclusion, each treatment option seems to have its own indications and characteristics, which must be considered in therapeutic decision and individualized for each patient.


Assuntos
Linfangioma , Anormalidades Linfáticas , Pediatria , Criança , Humanos , Linfangioma/tratamento farmacológico , Anormalidades Linfáticas/tratamento farmacológico , Anormalidades Linfáticas/patologia , Escleroterapia/métodos , Sirolimo/uso terapêutico
9.
Ethiop J Health Sci ; 32(1): 221-225, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35250235

RESUMO

Lymphangioma circumscriptum is a rare benign disorder of lymphatic channels in deep dermal and subcutaneous layers. It can occur either as a congenital abnormality or as acquired damage to previously normal lymphatic channels. It occurs in different parts of the body, and the vulva is one of the parts which is commonly affected. Here, we presented a 39 years old para 2 who presented with vulvar swelling. She was diagnosed with acquired lymphangioma circumscriptum of the vulva and superficial vulvectomy was done.


Assuntos
Linfangioma , Neoplasias Vulvares , Adulto , Edema , Feminino , Humanos , Linfangioma/congênito , Linfangioma/diagnóstico , Linfangioma/cirurgia , Vulva/cirurgia , Neoplasias Vulvares/congênito , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/cirurgia
10.
Virchows Arch ; 480(6): 1211-1221, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35013774

RESUMO

Lymphangiomas are comprised of aggregates of lymphatic vessels, considered to represent either aberrant embryogenic remnants or developing secondary to obstruction. Lymphangiomas primary to the heart and pericardial are exceedingly rare, and to date sparingly reported in individual case reports. In this study, the histopathologic, clinical, and radiologic features of 35 cases of cardiac/pericardial lymphangiomas described in the literature to date together with four cases from our own institution (39 cases in total) are examined to provide clinicopathologic characterization. Cardiac/pericardial lymphangiomas were identified in both children and adults, with two cases initially discovered in utero. If presenting with symptoms, patients most commonly exhibited respiratory distress/dyspnea. By X-ray, a widened cardiac silhouette could be noted, and echocardiogram generally showed an echogenic mass with cystic and septal components. On computed tomography (CT) and magnetic resonance imaging (MRI), cystic and septal components were again observed, with CT showing an absence of calcifications or macroscopic fat. Most lymphangiomas were pericardial (specifically visceral) based, and frequently situated in the right atrioventricular groove. A majority of cases proceeded to surgical resection, with no evidence of recurrence post-operatively. Grossly, lesions had a median size of 6 cm and in almost all cases were multicystic/multilocular. Microscopically, the lymphangiomas were composed of lymphatic spaces lined by endothelial cells that specifically express podoplanin (D2-40) with immunoperoxidase staining. Further investigation with a larger and more uniformly organized cohort is required to better characterize the clinicopathologic features of lymphangiomas of this unusual anatomic location.


Assuntos
Células Endoteliais , Linfangioma , Adulto , Criança , Células Endoteliais/patologia , Humanos , Linfangioma/diagnóstico por imagem , Linfangioma/patologia , Linfangioma/cirurgia , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X
11.
J Cutan Pathol ; 49(5): 426-433, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34877687

RESUMO

BACKGROUND: Acquired lymphangioma circumscriptum of the vulva is rare and can occur subsequent to malignancies of the anogenital and pelvic region. We sought to investigate the clinicopathologic characteristics of malignancy-associated acquired vulvar lymphangioma circumscriptum (AVLC). METHODS: We identified all cases of AVLC within our institution with history of prior malignancy between 2005 and 2021. A similar search was performed in the PubMed database to identify published cases to date. The clinical and histopathologic information was recorded. RESULTS: A total of 71 cases were identified. The most common preceding malignancy was cervical carcinoma (71.8%, 51/71). Radiation therapy was given to 91.4% (64/70) of the patients and lymph node dissection was made on 70.2% (40/57). Median interval between the diagnosis of malignancy and the AVLC was 10 years (range 0-32 years). AVLC frequently presented as vesicular (31.6%, 18/57) or verrucous (28.1%, 16/57) lesions clinically. Common treatments for AVLC included excision (53.1%, 26/49) and laser therapy (16.3%, 8/49), with an overall recurrence rate of 42.9% (24/56) at a median follow-up interval of 1.8 years (range 0.04-32.3 years). CONCLUSION: AVLC is a rare, late complication of anogenital and pelvic malignancies causing debilitating physical symptoms and psychological stress. Further studies are warranted to determine the most effective treatment modalities to mitigate recurrence.


Assuntos
Terapia a Laser , Linfangioma , Neoplasias Vulvares , Feminino , Humanos , Terapia a Laser/efeitos adversos , Linfangioma/patologia , Resultado do Tratamento , Vulva/patologia , Neoplasias Vulvares/patologia
12.
Cardiovasc Pathol ; 57: 107402, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34875365

RESUMO

Primary pericardial-based tumefactive lesions include pericardial cysts, mature teratomas, and lymphangiomas, and while benign they may result in clinical symptomatology that leads to their radiologic detection. We present the case of a 5-year-old boy with a heart murmur who was otherwise healthy and without significant medical history. Transthoracic echocardiogram, computed tomography, and magnetic resonance imaging studies revealed a pericardial multicystic mass imparting compression upon the right atrium and ventricle. The case proceeded to surgery in which complete resection of the mass was performed without complication, and the patient was discharged three days after. Pathology examination of the lesion determined it to be a pericardial lymphangioma with characteristic histologic features of sequestered vascular channels lined by endothelium that specifically expressed lymphatic-specific podoplanin (also known as D2-40), and with associated adipose tissue, smooth muscle bundles, and reactive lymphoid aggregates. Although a rare underlying etiology for mediastinal and specifically pericardial tumors, lymphangiomas should be considered in the differential of tumefactive lesions in this anatomic location.


Assuntos
Linfangioma , Pré-Escolar , Ecocardiografia , Humanos , Linfangioma/diagnóstico por imagem , Linfangioma/cirurgia , Imageamento por Ressonância Magnética , Masculino , Pericárdio , Tomografia Computadorizada por Raios X
16.
J Ultrasound Med ; 41(4): 1019-1026, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34288011

RESUMO

Fetal lymphangioma is an uncommon congenital malformation that is mainly comprised of the subcutaneous tissue of the neck. This malformation can develop in other areas like the thoracic and axillary regions, though rarely. We report 6 consecutive cases of lymphatic malformation in a fetal center in Dominican Republic. In our case series fetal chest lymphangiomas were present in 2 fetuses. In addition, 2 cases of axillary lymphangiomas also involved the thoracic region. Adequate management by a multidiciplinary team is necessary to provide a better approach to delivery.


Assuntos
Linfangioma , Anormalidades Linfáticas , Feminino , Feto , Humanos , Linfangioma/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
17.
Ophthalmic Plast Reconstr Surg ; 38(2): 108-121, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34238823

RESUMO

PURPOSE: Vascular anomalies are a heterogeneous group of disorders that frequently present in the periorbital region. They encompass 2 broad entities: vascular tumors, which possess a proliferative endothelium, and vascular malformations, which are basically localized defects of vascular morphogenesis. The primary goal of this review was to address inaccurate or controversial terminology in the oculoplastic literature concerning orbital and periorbital vascular anomalies and to categorize these lesions in an abridged and simplified hierarchical list that adheres as much as possible to the most recent (2018) iteration for the classification of vascular lesions proposed by the International Society for the Study of Vascular Anomalies (ISSVA). The secondary goal of this review was to review and update information regarding the genetic underpinnings of vascular anomalies and the downstream signaling pathways that are subsequently affected as a result of these genetic errors. METHODS: A literature review was conducted in PubMed, MEDLINE, PubMed Central, National Center for Biotechnology Information Bookshelf, and Embase for several related keywords including "vascular anomalies, vascular malformations, vascular tumors, and cavernous venous malformation," both with and without adding the keywords "eyelid," "orbital," and "periorbital." In addition, a detailed search was conducted for controversial or obsolete keywords like "cavernous hemangioma," "lymphangioma," and "varices," again in their systemic and orbital/periorbital context. RESULTS: Crucial issues in the 2018 ISSVA classification regarding the proper categorization of orbital vascular anomalies, particularly venous lesions, were critically evaluated and revised, and a regional, simplified, and abridged modification of the ISSVA 2018 classification was proposed. CONCLUSIONS: Interdisciplinary and intradisciplinary dialogue concerning orbital vascular anomalies is seriously compromised due to the lack of a unanimous agreement on terminology and the absence of a unified classification concept system. The authors recommend that oculoplastic surgeons adopt ISSVA terminology whenever technically possible and scientifically sound. However, they also propose modifying the ISSVA 2018 classification specifically to adapt to the peculiarities of vascular anomalies in the periorbital region. At present, the simplified classification proposed here is a preliminary first step towards managing patients with orbital vascular anomalies with greater diagnostic and therapeutic precision, until such time in the future when the entire genetic makeup of orbital vascular anomalies is more completely elucidated. Optimistically, this could pave the way for a more robust classification and the ultimate therapeutic cure.


Assuntos
Linfangioma , Varizes , Malformações Vasculares , Face , Humanos , Malformações Vasculares/diagnóstico , Malformações Vasculares/patologia , Veias
18.
Asian J Endosc Surg ; 15(1): 176-179, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33908176

RESUMO

Gastric lymphangioma (GLA) is an extremely rare tumor without an established therapeutic strategy. Surgical resection is considered the mainstay of treatment, although there is a high risk of local recurrence if negative margins are not achieved. A 51-year-old man underwent routine abdominal ultrasonography, which incidentally detected a 20-mm tumor adjacent to the lesser curvature of the stomach. GLA was suspected based on its polycystic appearance. After a 16-month monitoring period, laparoscopic resection was performed because of tumor growth and involvement of the left gastric artery. Intraoperative indocyanine green (ICG) navigation system revealed lymphatic drainage from the tumor, which we used to help determine the optimal excision line and minimize the loss of gastric volume. Pathological examination confirmed complete resection with negative margins and supported a diagnosis of lymphangioma. We performed laparoscopic radical resection of GLA under guidance from intraoperative ICG fluorescence imaging, which allowed us to maximize residual gastric volume.


Assuntos
Laparoscopia , Linfangioma , Fluorescência , Gastrectomia , Humanos , Verde de Indocianina , Linfangioma/diagnóstico por imagem , Linfangioma/cirurgia , Masculino , Pessoa de Meia-Idade , Imagem Óptica
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