William N. Rezuke

Hb S/Hb Lepore with mild sickling symptoms : A hemoglobin variant with mostly δ-chain sequences ameliorates sickle-cell disease

Three cases are reported of Hb S/Hb Lepore combination with very mild sickling manifestations. The presence of a nonα‐chain variant with a high proportion of δ chain sequences, including 22 ala, appears to ameliorate sickle‐cell disease. Efforts to increase the proportion of Hb A2 may be beneficial in sickle‐cell disease. Am. J. Hematol. 54:164–165

CD10-positive blastoid mantle cell lymphoma with secondary cutaneous involvement

To the Editor, Mantle cell lymphoma (MCL) comprises 3–10% of all non-Hodgkin lymphoma subtypes and usually pursues an aggressive clinical course.1– 4 Skin involvement is found in 2–6% of patients. Classical MCL (constituting the majority of cases) shows a monotonous proliferation of smallto mediumsized centrocyte-like lymphoid cells with slightly irregular nuclear contours, low mitotic index and expression of pan B-cell antigens and CD5 but not CD23 or bcl-6. The hallmark of MCL is the t(11;14)(q13;q32)/CCND1-IGH translocation, resulting in aberrant expression of the CCND1 gene and expression of cyclin D1 protein by tumor cells.1– 4 The vast majority of cases are negative for CD10 protein expression.1– 5 In concert with the typical chromosomal translocation and other immunophenotypic findings, the absence of CD10 reactivity is commonly used to distinguish MCL from other subtypes of B-cell lymphoma. The blastoid variant of MCL develops in 10–30% of patients with classical MCL and likely represents transformation of the original clone.1– 4 Blastoid MCL may be cytologically indistinguishable from other high-grade B-cell lymphomas, in particular lymphoblastic lymphoma.4 There are rare reports of cutaneous involvement by blastoid MCL, with most examples representing secondary involvement of the skin by underlying widespread systemic disease.1– 4 A 71-year-old man presented to his dermatologist with rapidly growing papules of recent onset on his right cheek (Fig. 1). The patient had a history of classical MCL of the left tonsil 5 years before with multiple subsequent recurrences involving the base of the tongue, but no evidence of oral disease at present. A skin punch biopsy Fig. 1. Rapidly growing papules of recent onset are noted on the right cheek.

A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia

BACKGROUND Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA). METHODS A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used. RESULTS A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 (D159Y). This mutation was also identified in the mother of the two probands. Mutations in all three individuals were confirmed by DNA sequencing analysis. CONCLUSIONS We identified a missense mutation in exon 5 of the ALAS2 gene in two brothers of a consanguineous marriage, who were clinically pyridoxine-responsive.

Nodular localized primary cutaneous amyloidosis: a bullous variant

Primary cutaneous amyloidosis describes a group of disorders in which amyloid is deposited in the skin without evidence of systemic involvement. Nodular localized primary cutaneous amyloidosis (NLPCA) is a rare form of these skin‐restricted amyloidoses. We present an unusual case of NLPCA in a 51‐year‐old man, who had clinical and histopathological evidence of subepidermal bullous formation, a unique feature in NLPCA. The possible pathogenesis of this change is discussed.

Kikuchi Disease in Connecticut

Kikuchi disease is a self-limited disorder of unknown etiology characterized by focal painful lymphadenitis, fever, and weight loss that can be mistaken for malignancy. Diagnosis is established by node biopsy. Kikuchi disease is endemic in Asia; 10 cases have been reported in the US to date. We report 3 cases and review other US cases.

PhenoGraph and viSNE Facilitate the Identification of Abnormal T‐Cell Populations in Routine Clinical Flow Cytometric Data

Flow cytometric identification of neoplastic T‐cell populations is complicated by the wide range of phenotypic abnormalities in T‐cell neoplasia, and the diverse repertoire of reactive T‐cell phenotypes. We evaluated whether a recently described clustering algorithm, PhenoGraph, and dimensionality‐reduction algorithm, viSNE, might facilitate the identification of abnormal T‐cell populations in routine clinical flow cytometric data.

Chronic Cervical Adenitis in an Infant Born to a Woman With Discoid Lupus

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America

Molecular Genetic Applications to the Diagnosis of Lymphoma

One of the earliest descriptions of primary tumors of lymph nodes was by Thomas Hodgkin in 1832. His publication entitled “On Some Morbid Appearances of the Absorbent Glands and Spleen” reported the clinical characteristics and post mortem findings from seven patients with an unusual disease of lymph nodes (1). Some 30 yr later, the term “Hodgkin’s disease” was introduced by Sir Samuel Wilks in honor of the work of Thomas Hodgkin (2).

Molecular Genetics and the Diagnosis of Hematological Malignancies

The hematological malignancies can be broadly categorized into the malignant lymphomas, which include the two major categories, non-Hodgkin’ s lymphoma (NHL) and Hodgkin’ s disease, the acute and chronic lymphoid leukemias, which may be of B- or T-cell type, acute myelogenous leukemia, the myelodysplastic syndromes, and the myeloproliferative disorders. The goal of this chapter is to focus on the hematopathological approach to the diagnosis of the various hematological disorders with emphasis on those disorders in which molecular genetic methods, specifically Southern blotting and polymerase chain reaction (PCR), are most commonly employed.

Molecular Mechanisms in Non-Hodgkin Lymphoma

Hematologic malignancies are a heterogeneous group of disorders that include neoplasms derived from cells of myeloid and lymphoid lineages. These malignancies can be categorized in many ways, but the most commonly used classification today is the World Health Organization’s Classification of Tumours of Haematopoietic and Lymphoid Tissues (WHO classification). This chapter will focus on the underlying pathogenesis of lymphoproliferative disorders with some reference on how that information can be used for diagnostic and prognostic purposes. Because an in-depth discussion of the pathogenesis of lymphoproliferative disorders is enough to fill several textbooks, a select group of non-Hodgkin lymphomas will be reviewed with particular attention to how the pathogenetic mechanisms can be used to classify, diagnose, and in some cases serve as a potential therapeutic targets. Finally, there will be a brief discussion of molecular profiling and microRNAs, two areas in which our understanding of lymphomagenesis stands to grow a great deal in the coming years.