Hairy cell leukemia: biology, clinical diagnosis, unusual manifestations and associated disorders

Polliack, Aaron

doi:10.1046/j.1468-0734.2002.00304.x

Cited by 47 publications

(8 citation statements)

References 138 publications

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“…Hairy cell leukemia (HCL) is a chronic lymphoproliferative disorder characterized as a mature B cell malignancy based on the fact that the hallmark leukemic cell in HCL expresses CD19, surface immunoglobulin (1), and clonal rearrangements of immunoglobulin heavy and light chain genes (2, 3)—all features of mature B cells (4, 5). At the same time, HCL cells also express cell surface markers not present on normal B cells, including CD103 and CD11c, antigens typically expressed on intraepithelial T cells and monocytes, respectively (6, 7).…”

Section: Introductionmentioning

confidence: 99%

“…At the same time, HCL cells also express cell surface markers not present on normal B cells, including CD103 and CD11c, antigens typically expressed on intraepithelial T cells and monocytes, respectively (6, 7). In addition, HCL patients have long been known to have clinical features disparate from most mature B cell malignancies, including the absence of lymph node involvement and frequent splenomegaly due to extramedullary hematopoiesis (EMH) (4). Gene expression microarray studies have not precisely identified a specific B cell population as the cell of origin of HCL (8).…”

Section: Introductionmentioning

confidence: 99%

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Hematopoietic Stem Cell Origin of BRAF V600E Mutations in Hairy Cell Leukemia

et al. 2014

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Hairy cell leukemia (HCL) is a chronic lymphoproliferative disorder characterized by somatic BRAFV600E mutations. The malignant cell in HCL has immunophenotypic features of a mature B cell, but no normal counterpart along the continuum of developing B lymphocytes has been delineated as the cell of origin. We find that the BRAFV600E mutation is present in hematopoietic stem cells (HSCs) in HCL patients, and that these patients exhibit marked alterations in hematopoietic stem/progenitor cell (HSPC) frequencies. Quantitative sequencing analysis revealed a mean BRAFV600E-mutant allele frequency of 4.97% in HSCs from HCL patients. Moreover, transplantation of BRAFV600E-mutant HSCs from an HCL patient into immunodeficient mice resulted in stable engraftment of BRAFV600E-mutant human hematopoietic cells, revealing the functional self-renewal capacity of HCL HSCs. Consistent with the human genetic data, expression of BRafV600E in murine HSPCs resulted in a lethal hematopoietic disorder characterized by splenomegaly, anemia, thrombocytopenia, increased circulating soluble CD25, and increased clonogenic capacity of B lineage cells—all classic features of human HCL. In contrast, restricting expression of BRafV600E to the mature B cell compartment did not result in disease. Treatment of HCL patients with vemurafenib, an inhibitor of mutated BRAF, resulted in normalization of HSPC frequencies and increased myeloid and erythroid output from HSPCs. These findings link the pathogenesis of HCL to somatic mutations that arise in HSPCs and further suggest that chronic lymphoid malignancies may be initiated by aberrant HSCs.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hematopoietic Stem Cell Origin of BRAF V600E Mutations in Hairy Cell Leukemia

et al. 2014

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“…The finding of hairy cells having nuclei widely separated by abundant cytoplasm, resulting in the so-called “fried-egg” appearance, can be sometimes a clue to the diagnosis along with the splenomegaly; the bone marrow is involved in nearly all patients with HCL and is hypercellular in most cases [4, 7]. Typical sites that are involved by HCL are the bone marrow and splenic red pulp; the disease can also be more widespread and involve extramedullary sites such as the central nervous system, gastrointestinal and urogenital tracts, heart, lungs, skeletal muscle, skin, thymus, and thyroid [5, 6, 8]. Involvement of the bone marrow in HCL with associated reticulin fibrosis results characteristically in hypocellular aspirate smears or dry tap.…”

Section: Discussionmentioning

confidence: 99%

“…Although rarely HCL can affect other organs including the mediastinum, retroperitoneal and paravertebral nodes, skin, gastrointestinal tract, nervous system, and ocular cavity [5, 6], we here present a case of HCL involving the breast, which was diagnosed as an incidental finding at the time of an elective reduction mammoplasty in an otherwise asymptomatic woman.…”

Section: Introductionmentioning

confidence: 99%

Primary Hairy Cell Leukemia/Lymphoma of the Breast: A Case Report and Review of the Literature

Pilichowska

Shariftabrizi

Mukand-Cerro

et al. 2014

Case Reports in Pathology

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Hairy cell leukemia/lymphoma (HCL) is a rare B-cell neoplasm primarily involving spleen, bone marrow, and blood. However, other sites of primary involvement do occur and can present a diagnostic and therapeutic challenge. We present an unusual case of HCL involving predominantly the breast that was diagnosed as an incidental finding during an elective reduction mammoplasty in an otherwise healthy asymptomatic woman. Bone marrow performed for staging revealed limited involvement by HCL. Notably, there was no splenomegaly and/or involvement of other extramedullary sites. The peripheral blood revealed minimal involvement detected by flow cytometry. Extensive immunohistochemical studies supported by positive BRAF V600E mutational status confirmed the diagnosis of HCL. The patient remains asymptomatic without treatment one year following the diagnosis. This is the first case of a well-documented HCL presenting primarily in the breast in an asymptomatic patient. We review the literature on extramedullary, extrasplenic involvement by HCL and discuss the diagnostic challenges as well as the utility of immunohistochemistry and molecular studies in the diagnosis of atypical presentations of HCL.

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“…Characteristically, patients with HCL do not suffer from leukaemia itself but from symptoms that are related to pancytopenia and opportunistic infections [2]. Hepatosplenic T-cell lymphoma (HSTCL) is a rare form of extranodal T-cell lymphoma derived from cytotoxic T cells.…”

Section: Introductionmentioning

confidence: 99%

Coexistent hairy cell leukaemia and hepatosplenic t-cell lymphoma: a case report

et al. 2014

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BackgroundHairy cell leukaemia (HCL) is a chronic B-cell leukaemia characterized by expansion of neoplastic cells in the spleen, bone marrow and blood. Symptoms of HCL are related to pancytopenia and immune deficiency. Patients with HCL have an increased risk of second malignancy either in a form of synchronous disease or in a form of an increased incidence of a second neoplasm after the treatment of HCL. Hepatosplenic T-cell lymphoma (HSTCL) is a rare form of aggressive extranodal T-cell lymphoma. Its pathogenesis is connected to a chronic immune deficiency status and its coexistence with other neoplasms is practically non-existent.CaseWe present a case of a 53-year-old female patient suffering from hepatosplenomegaly, peripheral lymphadenopathy and related B symptoms. An excisional biopsy of the enlarged axillary lymph node revealed partial infiltration with CD3+/CD56+/TIA + T cell lymphoma. Bone marrow trephine biopsy and flow cytometric immunophenotypization of bone marrow cells and peripheral blood showed presence of two types of neoplastic cells in the peripheral blood and in the bone marrow (composite lymphoma). One of them showed typical morphologic characteristics and immunohistochemical features of HCL, while another one was morphologically and immunophenotypically consistent with the diagnosis of HSTCL, respectively. The patient was treated with multivalent chemotherapy including rituximab but all treatments turned out to be only partially effective. While HCL responded to the treatment, HSTCL was refractory to the chemotherapy and the patient died 7 months after the initial diagnosis because of haematemesis induced by Mallory-Weiss syndrome.ConclusionThis is the first recorded case of coexistent HCL and HSTCL in the same patient. A multidisciplinary approach, encompassing careful morphology interpretation, immunophenotypic, cytogenetic and molecular analyses, is mandatory to obtain an accurate diagnosis of composite lymphoma.Virtual slidesThe virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9354870531161685.

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Hairy cell leukemia: biology, clinical diagnosis, unusual manifestations and associated disorders

Cited by 47 publications

References 138 publications

Hematopoietic Stem Cell Origin of BRAF V600E Mutations in Hairy Cell Leukemia

Hematopoietic Stem Cell Origin of BRAF V600E Mutations in Hairy Cell Leukemia

Primary Hairy Cell Leukemia/Lymphoma of the Breast: A Case Report and Review of the Literature

Coexistent hairy cell leukaemia and hepatosplenic t-cell lymphoma: a case report

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