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Biomedical subjects

William Kern

Publications and source records attributed to William Kern.

7 recordsLinked to original sources

Acute promyelocytic leukemia and constitutional trisomy 21.

The incidence of acute myelogenous leukemia (AML) in patients with constitutional trisomy 21 is estimated to be 1 in 300; it is usually seen before age four. Clinical and epidemiological data confirm the improved life expectancy of patients with Down syndrome and their increased susceptibility to the development of leukemia, among other cancers. The most frequent subtype of AML associated with Down syndrome is acute megakaryoblastic leukemia (FAB: M7). The description of acute promyelocytic leukemia (APL) in adult patients with Down syndrome is exceedingly rare. Herein, we describe the unusual presentation, treatment, results, and clinical course of an adult patient with APL and constitutional trisomy 21 and provide a brief review of the literature.

Adult↗

Trisomy 1q in a patient with severe aplastic anemia.

Aplastic anemia is a rare, serious disease characterized by hypocellular bone marrow and pancytopenia in the peripheral blood. Most cases are acquired, idiopathic, and without gross cytogenetic abnormalities. A few chromosome abnormalities have recurred among a small subset of patients, most commonly trisomy 8 and monosomy 7. Some of these chromosome abnormalities have prognostic and therapeutic significance, although for most the clinical relevance is not known. We present the case of a 40-year-old man with idiopathic severe aplastic anemia in bone marrow cells with trisomy of the whole long arm of chromosome 1 due to an unbalanced translocation between chromosomes 1 and 15 at breakpoints of q10 and 15q10. This clonal abnormality (which, to our knowledge, has not been previously reported in a patient with aplastic anemia) suggests that genes on 1q may be involved in marrow aplasia.

Adult↗

Marginal zone B-cell lymphoma of the uterus: a case report and review of the literature.

We report here a case of a 52-year-old female in whom immunohistological studies of the uterus established a diagnosis of extranodal marginal zone B-cell lymphoma. Malignant lymphoma arising from mucosa-associated lymphoid tissue (MALT) of uterus is extremely rare. Accurate histologic interpretation of uterine lymphoma is essential, as treatment options and prognosis vary based on the histological grade of such lymphomas. Patients with primary uterine lymphoma generally have intermediate or high-grade lymphoma and poorer prognosis.

Female↗

Remission of natural-killer cell lymphoma of the liver with anti-hepatitis C therapy.

Non-Hodgkin lymphomas (NHL) consist of a diverse group of lymphoproliferative neoplasms with unique patterns of biology, behavior, and differing responses to therapy. A rare subtype of malignancy arising from cells of putative natural killer (NK) origin is being recognized as a distinct clinicopathological entity. Viruses including hepatitis C have been reported in association with various types of NHL but not the NK-cell subtype. We hereby report a unique case of a patient with hepatitis C who developed hepatic NK-cell lymphoma and chronic NK-cell leukemia. Interestingly, we observed clinical and radiologic remission of the neoplasm following treatment with anti-hepatitis C therapy.

Antiviral Agents↗

Granulocytic sarcoma presenting with malignant anasarca in a patient with secondary acute myeloid leukemia.

Granulocytic sarcomas (GS) are rare extramedullary tumor masses composed of immature cells derived from the hematopoietic myeloid series. GS occur in 3% to 7% of cases of acute myeloid leukemia (AML) and can present before, during, or even after the diagnosis of AML. GS can involve different organs, individually or simultaneously, including the skin, lymph nodes, bone, breast, central nervous system, and lung among others. GS involving peritoneal and pleural fluids is a rare presentation. We present an unusual case of a patient with myelodysplastic syndrome whose disease progressed into a secondary AML and developed GS in the ascitic and pleural effusions as the predominant manifestation of disease progression.

Aged↗

Panniculitis: a presenting manifestation of disseminated histoplasmosis in a patient with rheumatoid arthritis.

We report a case of histoplasma panniculitis in a patient with rheumatoid arthritis treated with multiple immunosuppressive agents including infliximab. The patient presented with erythematous plaques involving the right upper anterior abdominal wall, the right flank and later extension to involve the left flank and the left axilla. The histopathologic examination of these lesions was consistent with lobular panniculitis and the cultures of these lesions and blood grew Histoplasma capsulatum. The clinical and histopathologic picture of histoplasma panniculitis and rheumatoid arthritis-associated panniculitis can be very similar, but the treatment is clearly different. Our case emphasizes the importance of considering rare manifestations of opportunistic infections in an era of widespread use of immunosuppressive medications in the field of rheumatology.

Journal Article↗