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

Oncogenic human papillomaviruses (HPVs) are associated with oropharyngeal squamous cell carcinoma (SCC). Infection with human immunodeficiency virus (HIV) increases susceptibility to opportunistic infections and viral-promoted cancers. The prevalences of HPV, herpes simplex virus (HSV), Epstein-Barr virus (EBV), and human herpesvirus-8 (HHV-8) have not been established for head and neck squamous cell carcinoma in HIV-positive patients (HIV+ HNSCC). We have observed that HIV+ HNSCC tend to contain numerous multinucleated tumor giant cells, this finding has not been described previously. The goal of this study is to test for these oncogenic viruses in a small cohort of retrospectively identified patients with HIV infection, and to compare histologically these cancers to a control group of HNSCC patients. Tumors were reviewed histologically and compared to a control group of 102 patients with HNSCC (serologically untyped or HIV negative). Polymerase chain reaction (PCR) was performed on formalin-fixed, paraffin-embedded HIV+ HNSCC samples from combined 25 patients in two institutions. In situ hybridization was performed to identify EBV (EBER) and immunohistochemistry was performed to detect HSV-1, HSV-2, HHV-8, and HIV-related proteins (Nef, p24). The study sample consisted of 34 HIV+ patients with HNSCC from Montefiore Medical Center, and six HIV+ HNSCC patients from Hospital Clinic, University of Barcelona; 24 (60%) men and 16 (40%) women. The larynx was most commonly involved (65%, n = 26); followed by the oropharynx (22.5%, n = 9). Four carcinomas arose from the oral cavity (10%) and one from the nasal cavity (2.5%). Histologically, multinucleated tumor giant cells were more common in the HIV+ group (39/40, 97.5%) than the control group (27/102, 26%, p 0.001, chi-square). HPV was detected in 6 of 25 (24%) HNSCC tumors by PCR, five were typed as HPV 16 and one as HPV 26/69; five of these tumors (83%) were located in the oropharynx. EBV, HSV-1, HSV-2, and HHV-8 were detected only infrequently in tumor cells. Nef protein was detected in tumor cells in 7 of 21 (33.3%) cases; p24 was not detectable in 6 tumors studied. There were no significant associations between HPV positive tumors and co-infections with other viruses. This study is consistent with other reports that suggest an increased incidence of laryngeal carcinoma for HIV+ patients. HPV was detected in 24% of HIV+ HNSCC, however, the number of tumors with amplifiable DNA (n = 25) is too small to allow for conclusions. EBV, HSV-1, HSV-2, and HHV-8 are uncommon in HIV+ HNSCC; it is unlikely that these viruses have a promoting effect. MNTCG are significantly common in HIV+ HNSCC, but there is overlap in MNTCG counts with the control group and therefore this finding cannot be used as a biomarker of HIV infection.
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PMID:Head and neck squamous cell carcinomas in HIV-positive patients: a preliminary investigation of viral associations. 2033 62

Conjunctival squamous cell carcinoma (SCC) is a rare finding in everyday clinical practice, but is the most common malignancy of the ocular surface. The incidence of this malignancy in the United States is 0.03 per 100,000 persons. It is one extreme of a spectrum of lesions encompassed in ocular surface squamous neoplasia which range from dysplasia to carcinoma in situ to invasive SCC. Exposure to ultraviolet radiation B (UVB), human papilloma virus (HPV), and human immunodeficiency virus (HIV) infection of eroded ocular surface are important risk factors predisposing to the development of this malignancy. Herein we report a case of SCC arising in chronic conjunctival irritation due to prolonged prosthetic use following enucleation for traumatic eye injury.
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PMID:Conjunctival squamous cell carcinoma due to ocular prostheses: a case report and review of literature. 2037 10

Laryngeal cancer in patients younger than 30 years is uncommon. We present data on this population obtained from the National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) Program. We identified 99 patients in this age group from the SEER 17 registry, which includes data submitted from 1973 through 2003. This population was made up of 52 females and 47 males; most were white, and most were aged 25 to 29 years. Malignancies of the glottis were the most common cancers, followed by supraglottic lesions. The 5-year relative survival rate was lowest among those aged 15 to 19 years-60.1%; 5-year relative survival among those aged 20 to 24 and 25 to 29 years was 87.7 and 87.4%, respectively. The etiology of squamous cell carcinoma (SCC) in children and adolescents remains uncertain, but in the adult population, a history of smoking, drinking, and poor oral hygiene cannot be ignored. Carcinoma of the larynx in young people has been related to malignant degeneration of papillomas and to complications of radiotherapy for papillomas. Infection with the human immunodeficiency virus possibly accelerates the development of SCC in patients with significant risk factors, presumably by impairing normal immune surveillance mechanisms.
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PMID:Laryngeal cancer in patients younger than 30 years: a review of 99 cases. 2039 49

Squamous cell carcinoma of the anal canal (SCCAC) is an increasing concern in the human immunodeficiency virus (HIV)-positive population in the highly active antiretroviral therapy (HAART) era. A discussion of the epidemiology, risk factors, clinical presentation, diagnosis, and treatment of SCCAC is presented.
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PMID:Squamous cell carcinoma of the anal canal. 2040 6

Individuals infected with the human immunodeficiency virus (HIV) are at increased risk for human papillomavirus (HPV)-related cancers of the anogenital region. A majority of these cancers have been reported in adult patients; few reports are available regarding anogenital HPV-associated carcinomas developing in children. We report a case of perianal Bowen disease in an HIV-positive child. An 8-year-old HIV-positive boy with a history of perianal verrucous lesions presented to a clinic in Lesotho because his caregiver noted his lesions were changing in color, texture, and extent. Histologic sections revealed squamous cell carcinoma in situ. Several cases of anogenital condyloma in HIV-positive children have been reported, but very few cases of HPV-associated cancer. Children with vertically transmitted HIV may be uniquely susceptible to persistent infection with strains of HPV acquired perinatally. While the introduction of highly active antiretroviral therapy has resulted in immune restoration, decreased opportunistic infection, and increased life expectancy for children and adults with HIV, it has not affected the incidence of HPV-related cancers in these patients. The increased life expectancy of children with HIV may actually put them at risk for developing an HPV-related anogenital cancer.
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PMID:Perianal Bowen disease in a child with human immunodeficiency virus. 2053 68

Disseminated squamous cell carcinoma (SCC) of the skin is exceedingly rare in children. SCC occurs after immunodeficiency from immunosuppression in organ transplant recipients or patients with HIV infection or leukaemia, but has not been reported in primary immunodeficiencies other than epidermodysplasia verruciformis. Interferon gamma receptor 2 (IFN gamma R2) deficiency is an exceedingly rare primary immunodeficiency, conferring almost selective predisposition to mycobacterial diseases. A disseminated, cutaneous SCC is described that occurred in a patient homozygous for a novel frameshift deletion at positions 949 and 950 (949delTG) in the IFNGR2 gene. The patient first presented at 1 year of age with disseminated Mycobacterium avium infection, with later infections of atypical mycobacteria (Mycobacterium fortuitum and Mycobacterium porcium). At 17 years of age, the patient developed multifocal SCC lesions on the face and both hands. Histopathological examination revealed well differentiated SCC. Despite local tumour excision, multiple lesions occurred and a large SCC on the right arm required amputation. The patient died at 20 years of age of disseminated SCC. Inherited disorders of IFN gamma mediated immunity may predispose patients to SCC.
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PMID:Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency. 2058 11

Canine viral plaques are uncommon skin lesions that are induced by papillomaviruses (PVs). Plaques are usually of little clinical significance in dogs, although they have been reported rarely to progress to squamous cell carcinoma (SCC). Here is described a 7-year-old mixed-breed dog that developed numerous darkly pigmented plaques up to 8 cm in diameter. Multiple ulcerated nodular masses were visible within plaques on the ventrum and axilla. The dog showed no clinical evidence of immunodeficiency and appeared otherwise healthy. Over the next 2 years, five surgeries were performed to remove 23 ulcerated masses that ranged in size from 2 to 5 cm in diameter. Five masses were submitted for histology, and all were SCCs. Each was surrounded by epidermis that contained histological features consistent with those described in canine plaques. Suggestive of a PV aetiology, massive numbers of large keratohyaline granules were present throughout the thickened epidermis. Additionally, koilocytes were focally present, and one sample contained a band of keratinocytes within the superficial epidermis that contained pale cytoplasm and marginated chromatin. From two samples, DNA sequences from a previously unreported PV were amplified, and immunohistochemistry confirmed the presence of PV antigen in both. The PV DNA sequences were most similar to those of canine PVs previously associated with plaque formation. The plaques observed in this case were unusual owing to their rapid growth, large size and frequent malignant transformation. It is unknown whether this unusual behaviour was due to the specific PV detected in this case or to host factors within the dog.
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PMID:Development of multiple pigmented viral plaques and squamous cell carcinomas in a dog infected by a novel papillomavirus. 2060 9

Autosomal-recessive hyper-IgE syndrome (AR-HIES) is a combined immunodeficiency recently found to be associated with mutations of DOCK8. Clinically, this disorder is characterized beside recurrent bacterial complications, in particular by an unusual susceptibility to extensive cutaneous viral complications and by a high risk for squamous cell carcinoma. Here, we report on lasting control over the disorder in two patients by hematopoietic cell transplantation (HCT). Both patients were suffering from extensive long-lasting cutaneous viral complications, in particular from disfiguring molluscum contagiosum infections, when treated at the age of 10 and 17 years. Donors were matched unrelated, and conditioning was carried out with a combination of fludarabine, melphalan and BM-targeted radioimmunotherapy. Both patients developed stable, full donor cell chimerism, with the exception of persistent low-IgA serum levels and the exception of normal immune functions. Over the course of several months, cutaneous manifestations of viral disease resolved completely and both patients remain clinically well and free of infectious complications at 4 and 2 years, respectively, after transplantation. This represents the first report indicating HCT to be curative in patients with AR-HIES, which should be considered early before life-threatening complications develop, which include malignancies.
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PMID:Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. 2062 10

The last WHO expert workgroup recommended abandoning the distinction between potentially malignant lesions and conditions. The term to use is "potentially malignant disorders". Leukoplakia is the most common of these disorders, while erythroplakia is rather rare. The diagnosis is still made by excluding other documented white or red lesions. Despite progress in molecular biology, no marker allows predicting malignant transformation. These lesions are treated surgically with or without dysplasia. It is unknown if this surgery can really prevent transformation into squamous cell carcinoma. The potential malignancy of oral lichen planus is still debated. The risk of malignant transformation is lower than that of leukoplakia. No treatment may prevent this. Other potentially malignant conditions such as oral submucous fibrosis, actinic cheilitis, lupus, and immunodeficiency are rare.
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PMID:[Potentially malignant disorders of the oral mucosa: terminology and classification]. 2073 38

Cutaneous malignancies are the most common malignancies in Whites; traditionally considered rare among Blacks, their occurrence in sub-Saharan Africa is yet to be fully characterized.Data on specimens submitted between 1992 and April 2008 on all histologically proven primary cutaneous malignancies were collected from the Pathology Department, including patient age, sex, anatomic site of malignancy, and histologic diagnosis. There were 1900 patients with primary cutaneous malignancies, aged between 8 months and 110 years, with a mean age of 49 years. There were 14 different types of malignancies found, with squamous cell carcinoma representing 45% of the total. A number of the rarer types have not been reported previously, from this region.Cutaneous malignancies in Africa present a number of management challenges including the following: difficulties in early diagnosis in the dark skin, late presentation, access to treatment, and the ability to pay for the appropriate treatment. The current human immunodeficiency virus/acquired immune deficiency syndrome scourge on the continent may lead a significant increase in cutaneous malignancies, posing even bigger challenges.
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PMID:Primary cutaneous malignancies in sub-Saharan Africa. 2123 1


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