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1.
ACG Case Rep J ; 7(12): e00495, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33324714

ABSTRACT

Hemophagocytic lymphohistiocytosis is a syndrome characterized by excessive immune activation. Timely diagnosis can be challenging, and prompt treatment is the only hope for survival. We present an adult patient with a history of alcohol dependence, who presented with fatigue, bilateral lower extremity edema, and orange-colored urine. Clinical workup revealed abnormal liver function tests, elevated ferritin, cytopenia, and lymphadenopathy. Eventually, he was diagnosed with hemophagocytic lymphohistiocytosis. This case report encourages gastroenterologists to maintain a high index of suspicion when a patient presents with liver failure, hyperferritinemia, and cytopenia because they may be the first healthcare professionals to evaluate these patients.

3.
Arch Pathol Lab Med ; 137(3): 360-70, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23451747

ABSTRACT

CONTEXT: Individuals who are immune deficient are at an increased risk for developing lymphoproliferative lesions and lymphomas. Human immunodeficiency virus (HIV) infection is 1 of 4 clinical settings associated with immunodeficiency recognized by the World Health Organization (WHO) in which there is an increased incidence of lymphoma and other lymphoproliferative disorders. OBJECTIVES: To describe the major categories of benign lymphoid proliferations, including progressive HIV-related lymphadenopathy, benign lymphoepithelial cystic lesions, and multicentric Castleman disease, as well as the different types of HIV-related lymphomas as defined by the WHO. The characteristic morphologic, immunophenotypic, and genetic features of the different entities will be discussed in addition to some of the pathogenetic mechanisms. DATA SOURCES: The WHO classification of tumors of hematopoietic and lymphoid tissues (2001 and 2008), published literature from PubMed (National Library of Medicine), published textbooks, and primary material from the authors' current and previous institutions. CONCLUSIONS: HIV infection represents one of the clinical settings recognized by the WHO in which immunodeficiency-related lymphoproliferative disorders may arise. Although most lymphomas that arise in patients with HIV infection are diffuse, aggressive B-cell lesions, other lesions, which are "benign" lymphoid proliferations, may also be associated with significant clinical consequences. These lymphoproliferations, like many other immunodeficiency-associated lymphoproliferative disorders, are often difficult to classify. Studies of HIV-associated lymphoid proliferations will continue to increase our understanding of both the immune system and lymphomagenesis.


Subject(s)
HIV Infections/complications , HIV Infections/pathology , Lymphoproliferative Disorders/pathology , Lymphoproliferative Disorders/virology , Humans , Lymphoma, AIDS-Related/pathology
4.
Cancer ; 117(1): 48-53, 2011 Jan 01.
Article in English | MEDLINE | ID: mdl-20803611

ABSTRACT

BACKGROUND: The current study was performed to determine the impact of polysomy 17 on the interpretation of HER2 testing of invasive breast carcinomas using fluorescent in situ hybridization methods. Current American Society of Clinical Oncology/College of American Pathologists guidelines define HER2-positive tumors as those with >6 HER2 genes per nucleus or those with HER2/CEP17 (chromosome 17) ratio >2.2. These guidelines are potentially contradictory in tumors with polysomy of chromosome 17. METHODS: Seventy-two breast carcinoma cases with reported polysomy of chromosome 17 (≥ 3 CEP17 signals on average) by fluorescent in situ hybridization were identified, and the corresponding HER2 immunohistochemistry was obtained. The HER2 status of the archived samples was reviewed, and the tumors were recategorized according to the 2007 American Society of Clinical Oncology/College of American Pathologists guidelines. RESULTS: The average CEP17 copy number for the group was 4.5 (range, 3.0-10.4). Thirty-three (45.8%) cases had >6 copies of HER2 per nucleus. Twenty-one cases (29.2%) qualified as HER2 gene amplified using the HER2/CEP17 ratio (>2.2) guideline. All these cases had >6 HER2 signals, which represented 63.6% of all cases with >6 HER2 signals. HER2 protein expression showed significant positive correlations with both HER2 gene copy number and HER2/CEP17 ratio (P < .01, r(s) = 0.56 and 0.64, respectively). CONCLUSIONS: Increased CEP17 signals detected in invasive breast carcinomas may lead to discordant interpretation of gene amplification in a significant proportion of the cases, depending on which criterion (ratio vs absolute number) is used for interpretation. However, increased gene dosage (>6 HER2 genes or HER2/CEP17 ratio >2.2), regardless of the evaluation method, is positively correlated with HER2 protein expression.


Subject(s)
Aneuploidy , Breast Neoplasms/genetics , Chromosomes, Human, Pair 17 , Genes, erbB-2 , Adult , Aged , Aged, 80 and over , DNA Copy Number Variations , Female , Humans , In Situ Hybridization, Fluorescence , Male , Middle Aged , Polymorphism, Single Nucleotide , Receptor, ErbB-2/metabolism
5.
Cases J ; 2: 7785, 2009 Jul 27.
Article in English | MEDLINE | ID: mdl-19830013

ABSTRACT

INTRODUCTION: Umbilical discharge in adult is rare and is usually induced by foreign material, most commonly hair. Rarely, it may be due to embryonal anomalies. We are reporting an unusual case of umbilical discharge in adult secondary to an impacted lint ball. CASE PRESENTATION: A 55-year-old obese woman presented with a 4-month history of hemorrhagic discharge from the umbilicus. Deep from the base of the umbilicus, a 0.8 cm gray-tan mass was removed that on microscopic examination revealed a lint ball. CONCLUSION: An impacted lint ball may be a rare cause of umbilical discharge in adult.

6.
Cases J ; 1(1): 48, 2008 Jul 18.
Article in English | MEDLINE | ID: mdl-18638402

ABSTRACT

Paraganglioma-like dermal melanocytic tumor is a rare subtype of benign dermal melanocytic tumors. Its histopathologic features resemble those of paraganglioma, but the immunostaining characteristics are those of melanocytic lesions.We report a case of a 60-year-old male with a paraganglioma-like dermal melanocytic tumor of his left cheek and briefly review the English literature.

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