Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant tumour arising in chronic congenital or acquired lymphedema is a rare medical condition. However it must be well known because of the usual severity of these highly malignant neoplasms. Stewart-Treves angiosarcoma is the most frequent tumour: it is a vascular malignant tumour, which mostly occur in post-surgical or radiotherapeutic lymphedema for breast cancer. It differs from secondary metastasis arising in lymphedema although the clinical and histological appearance is often very close. Other tumours can grow on this ground: Kaposi's sarcoma, squamous cell carcinoma, malignant lymphoma, melanoma. On the pathogenic point of view, many factors converge to this tumoral occurrence: lymphatic stasis and the reorganization of the conjunctival tissue that it will entail, the local immunodeficiency, and also systemic factors as a general immunodeficiency or viral potentially oncogenic infections such as papillomavirus. In practice, the prevention of lymphedema, the regular monitoring of constituted lymphedemas, the hygienic and preventive behaviours of infections are the best arrangements to avoid this tumoral occurrence.
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PMID:[Malignant tumors as complications of lymphedema]. 812 Apr 59

A forty-two-year-old man presented with a twelve-year history of a multilobular, firm, but nonulcerated tumor (6 by 4.5 cm) of the dorsum of the right foot. He had capillary telangiectasia of both ankles but no lymphedema. Results of tests for human immunodeficiency viruses I and II were nonreactive. The tumor showed a complex combination of features of spindle cell hemangioendothelioma, epithelioid hemangioendothelioma, and areas suggestive of a possible well-differentiated (lymph) angiosarcoma. The tumor was completely excised with minimal healthy margin. There was no evidence of local or distant lesion at one-year follow-up examination.
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PMID:Spindle cell hemangioendothelioma in association with epithelioid hemangioendothelioma. 818 42

In a review of 8724 de novo malignancies that occurred in 8191 organ allograft recipients sarcomas were 7.4% of cancers. Kaposi's sarcoma (KS) made up 5.7%, and other sarcomas (OS) 1.7% a much higher proportion than in the general population. KS was most common in Arab, black, Italian, Jewish, or Greek patients. In 60% of patients with KS the lesions were confined to the skin and/or oropharynx while 40% involved internal organs and/or lymph nodes. Complete remissions following various treatments occurred in 53% of the former group and 27% of the latter. In both groups 32% and 60% of remissions, respectively, occurred when the only treatment was reduction or cessation of immunosuppressive therapy. However, this treatment caused impaired function or allograft loss from rejection in 22 of 34 kidney recipients. Recurrent KS occurred in 5% of patients in remission when immunosuppressive therapy was resumed. Nine of 114 patients (8%) tested for human immunodeficiency virus were positive. Most OS arose in internal organs or soft tissues. The major types were fibrous histiocytoma (20 patients), leiomyosarcoma (15), fibrosarcoma (12), rhabdomyosarcoma (9), hemangiosarcoma (8), undifferentiated sarcoma (7) and mesothelioma (6). Several unusual features were noted. Remarkably, 10 of 105 (10%) sarcomas occurred adjacent to or in a renal (6) or hepatic (4) allograft. Leiomyosarcomas are rare in children, yet 5 of 15 (33%) occurred in pediatric patients. Three hemangiosarcomas occurred in forearms at sites of arteriovenous fistulas used for pretransplant hemodialysis access. One leiomyosarcoma and one fibrosarcoma occurred in previously irradiated areas. One patient with mesothelioma had a history of asbestos exposure and two others had possible exposure.
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PMID:Sarcomas in organ allograft recipients. 854 79

A cell line (ISO-HAS) has been established from tumor tissue of a human hemangiosarcoma arising on the scalp by the use of conditioned medium from a murine-phenotypic angiosarcoma cell line (ISOS-1). Cells have been cultured for more than 2 years with up to 100 passages. The cells retained endothelial-cell properties, such as a characteristic cobblestone appearance at confluency, contact-inhibited growth, active uptake of acetylated low-density lipoprotein labeled with 1,1-dioctadecyl 1,3,3,3,3-tetramethyl-indocarbocyanine perchlorate (DiI-Ac-LDL) and CD31 expression. However, they were weakly positive for von-Willebrand-factor (vWf) antigen and for binding of Ulex europaeus agglutinin-I (UEA-I) lectin, and lacked tube-formation activity. These findings indicate that ISO-HAS is a poorly differentiated endothelial cell line. ISO-HAS cells showed accumulation of p53 protein in the nuclei, and a new-typed p53-gene point mutation was found in exon 7 at codon 240. When inoculated s.c. into severe-combined-immunodeficiency (SCID) mice, the cells showed solid-tumor growth that caused death. These properties suggest that ISO-HAS is a malignant endothelial cell line with high tumorigenicity.
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PMID:Establishment of a human hemangiosarcoma cell line (ISO-HAS). 1018 35

Kaposi sarcoma is rare and occurs in four forms (classic, endemic, post-transplant and epidemic), which all have the same histological appearance associated with the same viral agent: human herpes virus type 8 (HHV-8). Conjunctival and palpebral locations are, however, rare, and only 30 cases have been described in the literature. We present the case of a 34-year-old woman with conjunctival Kaposi angiosarcoma, with rare bulbar location associated with superior palpebral telangiectases against a rare immunodepression syndrome (common variable immunodeficiency). The treatment consisted of an excision biopsy with an over-and-over suture of a conjunctival rotation flap, combined with anti-HHV-8 chemotherapy to effect a regression of the palpebral lesion. However, the reappearance of a conjunctival lesion on the rim of the excision site required local radiotherapy of approximately 30 Gy, with no recurrence after 1 month.
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PMID:[Conjunctival Kaposi sarcoma]. 2057 78

The Immunodeficiency, Centromeric region instability, and Facial anomalies (ICF) syndrome (OMIM #242860) is a rare autosomal recessive disorder caused by defective DNA methylation. Hematological disease and malignancy (macrophage activation syndrome, myelodysplastic syndrome, and Hodgkin lymphoma) have been reported in three patients. To date, there have been no reports of either epithelial or mesenchymal malignancies. We present a patient with all clinical and laboratory findings of the ICF syndrome who died of a metastatic angiosarcoma of the liver. This is the first report of a non-hematological malignancy in the ICF syndrome. The young age at which our patient developed an angiosarcoma suggests an effect of the defective DNA methylation observed in the ICF syndrome. Therefore, with improvement of recognition and treatment of the ICF syndrome, malignancy could become more common in this condition.
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PMID:Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome. 2133 90

Dyskeratosis congenita (DC) is a multisystem disease caused by genetic mutations that result in defective telomere maintenance. Herein, we describe a 17-year-old patient with severe DC, manifested by bone marrow failure, severe immunodeficiency, and enterocolitis requiring prolonged infliximab therapy, who developed fatal hepatic failure caused by an aggressive, infiltrating hepatic angiosarcoma. Although DC patients have known increased risk of developing liver failure and multiple types of malignancy, this report is the first to describe angiosarcoma in a DC patient. Malignancy should thus be considered in the differential diagnosis of progressive liver dysfunction in DC patients.
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PMID:Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita. 2358 25

Angiosarcoma of the breast represent <1% of breast malignancies. It can arise de novo (primary) or following treatment for breast carcinoma (secondary). Primary breast angiosarcoma usually affects young women and is extremely rare in the male patient population. Imaging features can have a nonspecific appearance. Histologically, the diagnosis can be challenging, especially in small core needle biopsies. Mastectomy or wide local excision is the usual treatment for both forms of angiosarcoma. Prognosis and recurrence is worse with increasing grade of tumor. Herein, we discuss the rare occurrence of primary breast angiosarcoma in a man with history of immunodeficiency. Clinical, radiological and pathologic findings will be discussed.
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PMID:Primary Breast Angiosarcoma in a Male. 2618 11

Not only for cutaneous angiosarcoma (CAS) patients but also for advanced and therapy-refractory patients with classic Kaposi sarcoma (CKS) and human immunodeficiency virus (HIV)-associated Kaposi sarcoma (HIV-KS) there is a high need for more effective treatment modalities. The aim of this work was to study programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) protein expression and related immune parameters in CKS, HIV-KS, and CAS and correlate it with other immunologic parameters and clinical data. Immunohistochemistry was performed on formalin-fixed paraffin-embedded tumor tissue of 19 CKS, 7 HIV-KS, and 12 CAS patients using antibodies against the following (and they are): PD-1, PD-L1, CD4, CD8, CD56, and FOXP3. PD-1 expression significantly correlated with PD-L1 expression Moreover, PD-1 and PD-L1 expression significantly correlated with CD56 and FOXP3 expression. High intratumoral FOXP3 expression was significantly associated with disease relapse (P=0.029). CD4 and FOXP3 expression was significantly higher in CKS and CAS, as compared with HIV-KS. All in all, PD-1 and PD-L1 expression was relatively weak and did not significantly differ between CKS, HIV-KS, and CAS patients. Nevertheless, PD-1 was positive in 31.6% of CKS, 28.6% of HIV-KS, and 33.3% of CAS patients. PD-L1 was expressed in 36.6% of CKS, 28.6% of HIV-KS, and 41.7% of CAS patients. We have provided evidence that PD-1/PD-L1 signalling is of importance in angiosarcomas such as CKS, HIV-KS, and CAS. Our results support the notion that the use of PD-1/PD-L1 inhibitors may represent an effective strategy against these tumors.
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PMID:Expression of Programmed Cell Death Proteins in Kaposi Sarcoma and Cutaneous Angiosarcoma. 3222 17

Lymphangiosarcoma, or Stewart-Treves Syndrome (STS), is a very rare skin angiosarcoma with poor prognosis, which usually affects the upper limbs of patients who underwent breast cancer surgery, including axillary dissection followed by radiotherapy (RT). Cutaneous lymphangiosarcomas, which account for approximately 5% of all angiosarcomas, usually originate in the limb with chronic lymphedema. Lymphatic blockade is involved in the onset of STS. RT contributes indirectly to an increased risk of developing STS by causing axillary-node sclerosis and resulting in a lymphatic blockade and lymphedema. Chronic lymphedema causes local immunodeficiency, which indirectly leads to oncogenesis. Currently, axillary nodes are no longer routinely irradiated after axillary dissection, which is associated with a reduction in the incidence of chronic lymphedema from 40% to 4%. The use of sentinel lymph node biopsy technique is also widespread and the associated risk of lymphedema is further reduced. Thus, the incidence of STS decreased significantly with improved surgical and radiation techniques. The overall prognosis of STS patients is very poor. Only early radical surgical removal, including amputation or disarticulation of the affected limb, or wide excision at an early stage offers the greatest chance of long-term survival. Only a few case reports and series with a small number of patients with lymphangiosarcoma can be found in the literature. We present a case report of the first diagnosed STS at our department in an effort to highlight the need of the consideration of developing lymphangiosarcoma in patients with chronic lymphedema.
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PMID:Stewart-Treves syndrome: Case report and literature review. 3308 29


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