HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

Sonigo, Gabrielle; Battistella, Maxime; Beylot‐Barry, M.; Ingen‐Housz‐Oro, Saskia; Franck, N.; Barète, Stéphane; Boulinguez, S.; Dereure, O.; Bonnet, N.; Socié, G.; Brice, Pauline; Boccara, O.; Bodemer, Christine; Adamski, H.; D’Incan, M.; Ortonne, Nicolas; Fraïtag, Sylvie; Brunet‐Possenti, F.; Dalle, Stéphane; Suarez, Félipe; Marçais, Ambroise; Skowron, F.; Haidar, D.; Maubec, E.; Bohelay, G.; Laroche, Liliane; Mahé, A.; Birckel, E.; Bouaziz, Jean‐David; Brochériou, Isabelle; Dubois, Romain; Faiz, Sarah; Fadlallah, Jehane; Ram‐Wolff, Caroline; Carlotti, A.; Bens, Guido; Balme, B.; Vergier, Béatrice; Laurent-Roussel, Sara; Deschamps, Lydia; Carpentier, O.; Moguelet, Philippe; Hervé, G.; Comoz, F.; Gall, François Le; Leverger, Guy; Finon, Antoine; Augereau, Olivier; Bléchet, Claire; Kerdraon, R.; Lamant, Laurence; Tournier, É.; Franck, F.; Costes-Martineau, Valérie; Szablewski, Vanessa; Taix, Sébastien; Beschet, Isabelle; Guèrin, Frédéric; Sepulveda, Fernando E.; Bagot, Martine; Basile, Geneviève de Saint; Michonneau, David; Masson, Adèle de

doi:10.1182/blood.2019003811

Cited by 30 publications

(61 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Lymphoma-associated viruses are known to have a higher prevalence in Asia [ 11 , 42 ] and probably in South America. SPTCL has been associated with the presence of germline HAVCR2 mutations, which are more frequent in Asian patients than in European ones [ 44 ]. For other rare CTCL, no geographic clustering could be identified in this study.…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of Cutaneous T-Cell Lymphomas: A Systematic Review and Meta-Analysis of 16,953 Patients

Dobos

Pohrt

Ram‐Wolff

et al. 2020

Cancers

Self Cite

View full text Add to dashboard Cite

Cutaneous T-cell lymphomas (CTCL) are a heterogenous group of rare diseases. Many studies have reported on local epidemiology or geographic clustering, however we lack information from a global perspective. A systematic review and meta-analysis was conducted in Medline and the Cochrane Library based on a previously registered protocol and according to the preferred reporting of items for systematic reviews and meta-analyses (PRISMA). We selected publications that enrolled at least 100 patients with primary cutaneous lymphomas according to the current classifications. The relative frequencies (proportions) of subtypes were compared between studies and geographic regions in a meta-analysis. In total, 26 studies met our inclusion criteria, reporting on altogether 16,953 patients. Within primary cutaneous lymphomas, CTCL appeared to be 15% more frequent in Asian populations. Mycosis fungoides (MF) accounted for 62% of CTCL, with an important heterogeneity in frequencies between studies and continents. The proportion of Sézary syndrome (SS) was 3%, stable worldwide. Rare CTCL, such as NK/T-cell lymphoma or subcutaneous panniculitis-like lymphoma, were more frequent in Asian studies. This global meta-analysis of CTCL confirmed the predominance of CTCL among primary cutaneous lymphomas (83% on average) in the three analyzed continents, most of which were MF cases. It revealed the same proportions of SS across continents, and the heterogeneity of MF frequencies, suggesting the possible role of environmental factors in the pathophysiology of the latter. Registration number: CRD42020148295 (PROSPERO).

show abstract

Section: Discussionmentioning

confidence: 99%

Epidemiology of Cutaneous T-Cell Lymphomas: A Systematic Review and Meta-Analysis of 16,953 Patients

Dobos

Pohrt

Ram‐Wolff

et al. 2020

Cancers

Self Cite

View full text Add to dashboard Cite

show abstract

“…Initially, multiagent chemotherapy such as CHOP (combination chemotherapy regimen of “cyclophosphamide, hydroxydaunorubicin, oncovin and prednisone”) or CHOP‐like is recommended 2 . Sonigo et al 3 reported that there was no significant difference in complete response rate between patients receiving immunoregulatory drugs and those receiving chemotherapy as first‐line treatment. Polychemotherapy should not routinely be the first choice of treatment.…”

Section: Discussionmentioning

confidence: 99%

Subcutaneous panniculitis‐like T cell lymphoma presented as erythema nodosum: A case report

Sun

Zheng

Hong

et al. 2020

Dermatologic Therapy

View full text Add to dashboard Cite

Subcutaneous panniculitis‐like T cell lymphoma (SPTCL) is an extremely rare subtype of primary cutaneous T cell lymphomas mimicking panniculitis. Clinically, patients are usually presented with subcutaneous nodules, which usually leads to initial misdiagnosis as a benign cutaneous condition. Here, we report a 40‐year‐old female who presented with subcutaneous erythematous nodules on her extremities with fever. On the basis of the clinical presentations, histopathological features and immunohistochemical findings, a diagnosis of SPTCL was made. The patient was treated with the injection of recombinant human interferon α‐1b (30 μg) every other day for 3 months. The lesions gradually regressed. No new erythema nodules reappeared during the 10‐month follow‐up.

show abstract

“…Allogeneic HSCT is also the definitive treatment of choice for HLH in the context of several other inborn errors of immunity, including XLP1 or XLP2 and patients with TIM3 deficiency (91,92). Furthermore, HSCT has been successfully performed in a patient with a CDC42 mutation (34).…”

Section: Definitive Therapy Hematopoietic Stem Cell Transplantation (mentioning

confidence: 99%

Cell Versus Cytokine – Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity

et al. 2020

View full text Add to dashboard Cite

Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous hyperinflammatory syndrome with different pathways of pathogenesis resulting in similar clinical presentations. It is best defined and understood if presenting in the context of genetic immunodeficiencies associated with defects of lymphocyte cytotoxicity. In these "primary" forms of HLH, cellular and soluble immune effectors are relatively well characterized. While etoposide-based broad cell-directed therapies remain standard of care, more specific therapies targeting these effectors individually are increasingly available. Anti-CD52 as a cell-directed therapy and anti-IFN-gamma, IL-18BP, and JAK-inhibition as cytokine-directed therapies are expected to broaden the therapeutic options, but the precise role of these drugs in first-line and rescue treatment indications remains to be defined. A number of additional inborn errors of immunity are associated with episodes of immune activation fulfilling the clinical criteria of HLH. Impaired pathogen control is a key driver of hyperinflammation in some conditions, while others are characterized by a strong autoinflammatory component. This heterogeneity of disease-driving factors and the variable severity in disease progression in these conditions do not allow a simple adaptation of protocols established for "primary" HLH to HLH in the context of other inborn errors of immunity. Cytokine-directed therapies hold significant promise in these increasingly recognized disorders.

show abstract

HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

Cited by 30 publications

References 10 publications

Epidemiology of Cutaneous T-Cell Lymphomas: A Systematic Review and Meta-Analysis of 16,953 Patients

Epidemiology of Cutaneous T-Cell Lymphomas: A Systematic Review and Meta-Analysis of 16,953 Patients

Subcutaneous panniculitis‐like T cell lymphoma presented as erythema nodosum: A case report

Cell Versus Cytokine – Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity

Contact Info

Product

Resources

About