Both variant and IGHV4-34–expressing hairy cell leukemia lack the BRAF V600E mutation

Xi, Liqiang; Arons, Evgeny; Navarro, Winnifred; Calvo, Katherine R.; Stetler‐Stevenson, Maryalice; Raffeld, Mark; Kreitman, Robert J.

doi:10.1182/blood-2011-09-379339

Cited by 206 publications

(156 citation statements)

References 21 publications

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“…Furthermore, 40% of HCL‐V and 10% of HCL patients have an IGHV4–34 immunoglobulin variable heavy chain rearrangement. VH4–34 positive HCL cases represent a subset and a new variant of HCL that is associated with poor prognosis, which includes higher disease burden at diagnosis, poor response to standard therapy, shorter overall survival (OS) and absence of the BRAF‐ V600E mutation 10, 11…”

Section: How the Diagnosis Of Hcl And Hcl‐like Disorders Has Improvedmentioning

confidence: 99%

Hairy cell leukemia 2018: Update on diagnosis, risk‐stratification, and treatment

Troussard

Cornet

2017

American J Hematol

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Disease overviewHairy cell leukemia (HCL) and HCL‐like disorders, including HCL variant (HCL‐V) and splenic diffuse red pulp lymphoma (SDRPL), are a very heterogeneous group of mature lymphoid B‐cell disorders, characterized by the identification of hairy cells, a specific genetic profile, a different clinical course and the need for appropriate treatment.DiagnosisDiagnosis of HCL is based on morphological evidence of hairy cells, an HCL immunologic score of 3 or 4 based on the CD11C, CD103, CD123, and CD25 expression, the trephine biopsy which makes it possible to specify the degree of tumoral medullary infiltration and the presence of BRAF V600E somatic mutation.Risk stratificationProgression of patients with HCL is based on a large splenomegaly, leukocytosis, a high number of hairy cells in the peripheral blood and the immunoglobulin heavy chain variable region gene mutational status. VH4‐34 positive HCL cases are associated with poor prognosisRisk adapted therapyPurine analogs (PNA) are indicated in symptomatic first line HCL patients. The use of PNA followed by rituximab represents an alternative option.Management of progressive or refractory diseaseIt is based on the use of BRAF inhibitors associated or not with MEK inhibitors, recombinant immunoconjugates targeting CD22 or BCR inhibitors.

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Section: How the Diagnosis Of Hcl And Hcl‐like Disorders Has Improvedmentioning

confidence: 99%

Hairy cell leukemia 2018: Update on diagnosis, risk‐stratification, and treatment

Troussard

Cornet

2017

American J Hematol

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“…Ezeket a munkákat a 2. táblázat foglalja röviden össze [5,7,16,17,18,19,20,21,22,23]. Lényegében eddig valamennyi munkacsoport megerősítette azt a feltételezést, hogy a BRAF V600E-mutáció a klasszikus hajas sejtes leukémia visszatérő szomatikus mutációja.…”

Section: Megerősítő Vizsgálatokunclassified

“…Ezzel szemben egy bethesdai munkacsoport, Xi és munkatársai klasszikus és variáns hajas sejtes leukémiás, de ezeken belül nehézlánc-génátrendeződéssel járó [IGHV4-34(+)] és nem járó mintáikon a nehézlánc-génátrendeződéssel járó esetekben nem tudtak BRAF V600E-mutációt kimutatni [21]. Felmerült tehát, hogy a klasszikus hajas sejtes leukémián belül további szubpopulációk létezné-nek -avagy mégsem minden klasszikus HSL hordozza ezt a mutációt?…”

Section: Megerősítő Vizsgálatokunclassified

Recurrent somatic mutation in hairy cell leukemia

2013

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A hajas sejtes leukémia olyan érett B-sejtes non-Hodgkin-lymphoma, amelyet egyedi klinikai, morfológiai és immunfenotípusbeli sajátosságok jellemeznek. A betegséget splenomegalia, progresszív pancytopenia és relatív indolens lefolyás kíséri. A diagnózis megszületése után a klinikai stádiumtól függ, hogy a "watchful waiting" stratégiát választ-juk, avagy azonnali kezelés szükséges. Az első vonalban javasolt purin-nukleozid analógokkal (cladribin, pentostatin) akár több évtizedig tartó komplett remisszió is elérhető. A hajas sejtes leukémia néha igen komoly differenciáldiag-nosztikai kérdéseket felvető betegség. A pontos diagnózis igen nagy horderejű, hiszen a rokon kórképek prognózisa és kezelése nagymértékben különbözik a hajas sejtes leukémiáétól. Ezért volt kiemelkedő fontosságú az a felismerés, hogy létezik olyan genetikai elváltozás, amely e betegségek elkülönítő diagnózisában döntő értékű. A BRAF gén V600E szomatikus mutációja hajas sejtes leukémiában szenvedő betegek csontvelői mintáiból izolált DNS-ben minden esetben jelen van, míg a rokon kórképekre ezen mutáció hiánya a jellemző. A szerzők a mutáció felismerésének és a mutációvizsgálat alkalmazásának jelentőségét foglalják össze. Orv. Hetil., 2013, 154, 123-127. Kulcsszavak: hajas sejtes leukémia, BRAF Recurrent somatic mutation in hairy cell leukemiaHairy cell leukemia is a mature B-cell non-Hogkin lymphoma characterized by unique clinical, morphological and immunhistochemical features. Patients with hairy cell leukemia usually present with splenomegaly, progressive pancytopenia and a relative indolent clinical course. The diagnosis does not always indicate immediate treatment, as treatment depends on the clinical stage of the leukemia. Asymptomatic disease without progression requires a watchful waiting policy, while other categories usually need treatment. The treatment of choice is purin nucleosid analogues (pentostatin, cladribine) which can achieve complete remission even for decades. Interferon and monoclonal CD20 antibodies can also signifi cantly prolong tevent free survival. Unfortunately, only the latter two therapies are easily available in Hungary. Splenectomy, which was suggested as fi rst line treatment before the era of purin nucleosid analogues, is only recommended as ultimum refugium. Although hairy cell leukemia is a well-defi ned lymphoproliferative disease, sometimes it is diffi cult to differentiate it from other similar entities such as hairy cell leukema variant, splenic marginal zone lymphoma, small lymphocytic lymphoma etc. Making the correct diagnosis is of utmost importance because of the great difference in treatment modalities. Recently, a somatic mutation was found in all analysed hairy cell leukemia samples, but not in other splenic B-cell lymphomas. This article reviews the signifi cance of this observation and presents the different types of methods for the detection of this mutation. Orv. Hetil., 2013, 154, 123-127. Keywords: hairy cell leukemia, BRAF (Beérkezett: 2012. november 27.; elfogadva: 2012. december 19.) ...

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“…On high-power examination, the lymphoid cells are monomorphous and small to medium in size, with round, regular nuclei, condensed chromatin, inconspicuous nucleoli, and scant cytoplasm (d inset, H&E, x1,000). The neoplastic cells are positive for IgG by immunohistochemistry (e, x200) and Ki-67 shows an overall low proliferation index that is homogenous throughout the section, without evidence of a nodular or annular staining pattern that would be expected in splenic marginal zone lymphoma (f, x200) V600E mutation by PCR and BRAF V600E expression by immunohistochemistry [42][43][44][45]49]. The precise biological relationship, if any, between HCLv and splenic diffuse red pulp small B-cell lymphoma (SDRPSBCL, see below) is not known.…”

Section: Other Splenic Lymphomas With Predominantly Red Pulp Diseasementioning

confidence: 99%

Small B-cell lymphomas of the spleen: how to tell them apart

Sohani

Zukerberg

2014

J Hematopathol

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Both variant and IGHV4-34–expressing hairy cell leukemia lack the BRAF V600E mutation

Cited by 206 publications

References 21 publications

Hairy cell leukemia 2018: Update on diagnosis, risk‐stratification, and treatment

Hairy cell leukemia 2018: Update on diagnosis, risk‐stratification, and treatment

Recurrent somatic mutation in hairy cell leukemia

Small B-cell lymphomas of the spleen: how to tell them apart

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