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)

Plasmablastic lymphoma (PBL) is a rare aggressive variant of large B-cell lymphoma defined as a proliferation of large neoplastic plasmablasts/immunoblasts. PBL was first described as a distinct entity in a group of 16 patients with lymphoma of the oral cavity. Most patients are HIV-positive men. The disease has also been reported in other patient groups, often in association with primary or other acquired immunodeficiency. PBL shows a predilection for the oral cavity, although extraoral involvement also occurs. Because of its rarity, unique clinical features, and overlapping morphologic/immunophenotypic features, care must be taken to distinguish PBL from diffuse large B-cell lymphoma and plasma cell neoplasms with plasmablastic features. We report 3 cases of neoplasms with plasmablastic histomorphology involving the oral cavity. The relevant clinical, morphologic, and immunophenotypic features and treatment are presented, along with a review of the literature.
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PMID:Lymphoid neoplasms of the oral cavity with plasmablastic morphology-a case series and review of the literature. 3149 13

Plasmablastic lymphoma (PBL) is an aggressive malignancy that usually occurs in the setting of immunosuppression. The immunohistochemical profile of PBL is that of terminally differentiated B lymphocytes. CD138, CD38, and MUM1 are usually immunopositive. However, pan B-cell markers such as CD20 and PAX-5 are usually negative. MYC rearrangement is the most commonly encountered genetic alteration, with immunoglobulin (IG), especially immunoglobulin heavy (IGH) chain, being the most frequent partner. We report a case of PBL in a 48-year-old human immunodeficiency virus- (HIV-) positive male who was admitted to the hospital with signs and symptoms suspicious for tumor lysis syndrome. Bone marrow examination revealed hypercellular marrow with trilineage hypoplasia and sheets of intermediate to large neoplastic cells with basophilic vacuolated cytoplasm comprising the majority of cellular elements of the bone marrow. The neoplastic cells were negative for conventional B-cell, T-cell, plasma cell, and myeloid markers, while flow cytometric analysis revealed an abnormal CD45-dim population that was partially weakly positive for CD71 and CD79b. The diagnosis was initially thought to be a high-grade primitive hematopoietic neoplasm, possibly an acute undifferentiated leukemia. BOB-1, however, was immunopositive in the neoplastic cells, confirming its B-cell origin. MYC was positive by immunohistochemistry and break-apart FISH, as were CD45, MUM-1, and EMA immunostains. There was immunoglobulin kappa (IGK) light chain gene rearrangement by polymerase chain reaction (PCR). Additionally, Epstein-Barr virus- (EBV-) encoded small RNAs (EBER) were positive by in situ hybridization (ISH). The tumor proliferation index by Ki-67 immunostaining approached 95%. Although the tumor cells were negative for CD38 and CD138, the diagnosis of PBL was still rendered. We recommend using a broad spectrum of B-cell markers, including BOB-1 and OCT-2, in such challenging cases of B-cell lymphomas with no expression of conventional B-cell markers. We also emphasize that the negative CD38 and CD138 should not exclude PBL from the differential diagnosis.
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PMID:Plasmablastic Lymphoma, a Rare Entity in Bone Marrow with Unusual Immunophenotype and Challenging Differential Diagnosis. 3156 47

We describe an exceptionally rare case of a male patient with newly diagnosed advanced human immunodeficiency virus (HIV) infection, who presented with a plasmablastic lymphoma involving the right maxillary alveolar ridge with associated cervical lymphadenopathy. On a staging positron emission tomography computed tomography (PET-CT) scan, he was incidentally found to have an endotracheal tumour involving the anterolateral aspect of the mid-trachea. The tumour appeared to be well-vascularised at bronchoscopy and was confirmed as well-differentiated plasmablastic lymphoma. Plasmablastic lymphoma is a rare form of non-Hodgkin lymphoma and is associated with HIV. Tracheal involvement to the extent seen in our patient is exceptionally rare, and, to the best of our knowledge, has never been described.
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PMID:An Endotracheal Plasmablastic Lymphoma. 3163 91

Plasmablastic lymphoma (PBL) is an aggressive type of large B-cell lymphoma as stated in the WHO classification of 2008. It is a rare form of non-Hodgkin's lymphoma, generally seen in human immunodeficiency virus (HIV)-acquired immunodeficiency syndrome affected individuals. A case of a 42-year-old female patient is presented here. The patient complained of swelling in the lower right back tooth region and presented with a history of extraction of molars. The underlying HIV status was detected after the oral examination. The diagnosis of PBL was confirmed with immunohistochemical analysis.
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PMID:Intraoral plasmablastic lymphoma as a primary oral manifestation: A case report and review of literature. 3218 13

Plasmablastic lymphoma (PBL) is a rare type of non-Hodgkin lymphoma frequently found in the context of immunosuppression and infection with human immunodeficiency virus (HIV) and/or Epstein-Barr virus (EBV). A 33-year-old immunocompetent male presented with recurrent episodes of epistaxis and a growing intranasal mass. Excisional biopsy of the mass revealed an immunohistochemical profile diagnostic of PBL. Upon completion of chemoradiation, he underwent a transnasal endoscopic mucosal flap tissue rearrangement to restore patency for both functional and surveillance purposes. There was no endoscopic evidence of residual or recurrent disease. However, 8 months later, he was found to have a relapse involving the skin. The nasal cavity is one of the most common sites affected by PBL. Involvement of the nasal cavity may present with symptoms of persistent epistaxis accompanied by an enlarging mass. A plasmablastic immunophenotype in combination with HIV or EBV positivity can aid diagnosis.
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PMID:Relapse of Plasmablastic Lymphoma With Cutaneous Involvement in an Immunocompetent Male. 3295 61

Plasmablastic lymphoma (PBL) is a rare and aggressive form of mature B cell neoplasms almost exclusively identified in patients infected with the human immunodeficiency virus (HIV). The small number of HIV-negative PBL cases reported in the literature to date is composed of single case reports and small case series which characteristically are present involving the oral cavity mucosa or gingiva. We present a 72-year-old HIV-negative Australian patient without any cause of immunodeficiency, with an isolated left maxillary sinus PBL.
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PMID:Unilateral Maxillary Sinus Plasmablastic Lymphoma in an Immunocompetent Patient. An Unusual Occurrence Report and Literature Review. 3304 47

Plasmablastic lymphoma (PBL) is an aggressive B-cell non-Hodgkin lymphoma associated with immunodeficiency in the context of Human Immunodeficiency Virus (HIV) infection or iatrogenic immunosuppression. While a rare disease in general, the incidence is dramatically increased in regions of the world with high HIV prevalence. The molecular pathogenesis of this disease is poorly characterized. Here, we defined the genomic features of PBL in a cohort of 110 patients from South Africa (15 by whole exome sequencing and 95 by deep targeted sequencing). We identified recurrent mutations in genes of the JAK-STAT signaling pathway, including STAT3 (42%), JAK1 (14%) and SOCS1 (10%), leading to its constitutive activation. Moreover, 24% of cases harbored gain-of-function mutations in RAS family members (NRAS and KRAS). Comparative analysis with other B-cell malignancies uncovered PBL-specific somatic mutations and transcriptional programs. We also found recurrent copy number gains encompassing the CD44 gene (37%), which encodes for a cell surface receptor involved in lymphocyte activation and homing, and was found expressed at high levels in all tested cases, independent of genetic alterations. These findings have implications for the understanding of the pathogenesis of this disease and the development of personalized medicine approaches.
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PMID:Genomic characterization of HIV-associated plasmablastic lymphoma identifies pervasive mutations in the JAK-STAT pathway. 3322 11


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