The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
Raymond H. Kaufman - One of the best experts on this subject based on the ideXlab platform.
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Langerhans cell Histiocytosis of the vulva: two case reports.
Journal of Lower Genital Tract Disease, 2004Co-Authors: Jennifer E. Dietrich, C. L. Edwards, Rodolfo Laucirica, Raymond H. KaufmanAbstract:: This report describes the histopathologic results of Langerhans cell Histiocytosis of the vulva and options for treatment. We present two new cases demonstrating vulvar manifestations of disease and their course of treatment with a review of the literature. Langerhans cell Histiocytosis of the female genital tract is rare. The disease cannot be diagnosed without biopsy of cutaneous lesions. Langerhans cell Histiocytosis of the vulva is a rare disorder with few options for treatment.
Julien Haroche - One of the best experts on this subject based on the ideXlab platform.
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systemic Histiocytosis langerhans cell Histiocytosis erdheim chester disease destombes rosai dorfman disease from oncogenic mutations to inflammatory disorders
Current Oncology Reports, 2019Co-Authors: Matthias Papo, Fleur Cohenaubart, Ludovic Trefond, Adeline Bauvois, Zahir Amoura, Jeanfrancois Emile, Julien HarocheAbstract:Provide an overview of recent progress in decoding the pathogenesis and treatment of systemic histiocytoses. Advances in molecular techniques over the last few years, enabling the identification of several MAPK mutations in lesion histiocytes, have revolutionized our understanding of Histiocytosis that led to a revised classification and new treatments. Since the 2010 discovery of the BRAFV600E mutation in 57% of Langerhans cell Histiocytosis (LCH) lesions, several other kinase mutations have been found, mostly in the MAPK pathway, and also in other key signaling pathways, in LCH, Erdheim–Chester Disease (ECD) and, less frequently, Destombes–Rosai–Dorfman disease (RDD). Those revolutionary breakthroughs enhanced our understanding of the pathogenesis of Histiocytosis and led to trials with targeted therapies that demonstrated notable efficacy.
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Association of both Langerhans cell Histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation
Blood, 2014Co-Authors: Baptiste Hervier, Julien Haroche, Laurent Arnaud, Frédéric Charlotte, Jean Donadieu, Antoine Neel, François Lifermann, Carles Villabona, Bruno Graffin, Olivier HermineAbstract:Histiocytoses are a group of heterogeneous diseases that mostly comprise Langerhans cell Histiocytosis (LCH) and non-LCH. The association of LCH with non-LCH is exceptional. We report 23 patients with biopsy-proven LCH associated with Erdheim-Chester disease (ECD) (mixed Histiocytosis) and discuss the significance of this association. We compare the clinical phenotypes of these patients with those of 56 patients with isolated LCH and 53 patients with isolated ECD. The average age at diagnosis was 43 years. ECD followed (n = 12) or was diagnosed simultaneously with (n = 11) but never preceded LCH. Although heterogeneous, the phenotype of patients with mixed Histiocytosis was closer to that of isolated ECD than to that of isolated LCH (principal component analysis). LCH and ECD improved in response to interferon alpha-2a treatment in only 50% of patients (8 of 16). We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions. Eight patients had mutations in both ECD and LCH biopsies. Our findings indicate that the association of LCH and ECD is not fortuitous and suggest a link between these diseases involving the BRAF(V600E) mutation.
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dramatic efficacy of vemurafenib in both multisystemic and refractory erdheim chester disease and langerhans cell Histiocytosis harboring the braf v600e mutation
Blood, 2013Co-Authors: Julien Haroche, Fleur Cohenaubart, Jeanfrancois Emile, Laurent Arnaud, Frédéric Charlotte, Philippe Maksud, Philippe Cluzel, Aurelie Drier, B Hervier, Neila BenameurAbstract:Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAFV600E gain-of-function mutations have been observed in 57% of cases of Langerhans cell Histiocytosis (LCH) and 54% of cases of Erdheim-Chester disease (ECD), but not in other types of histiocytoses. Targeted therapy with an inhibitor of mutated BRAF (vemurafenib) improves survival of patients with melanoma. Here, we report vemurafenib treatment of 3 patients with multisystemic and refractory ECD carrying the BRAFV600E mutation; 2 also had skin or lymph node LCH involvement. The patients were assessed clinically, biologically (CRP values), histologically (skin biopsy), and morphologically (positron emission tomography [PET], computed tomography and magnetic resonance imaging). For all patients, vemurafenib treatment led to substantial and rapid clinical and biologic improvement, and the tumor response was confirmed by PET, computed tomography, and/or magnetic resonance imaging 1 month after treatment initiation. For the first patient treated, the PET response increased between months 1 and 4 of treatment. The treatment remained effective after 4 months of follow-up although persistent disease activity was still observed. Treatment with vemurafenib, a newly approved BRAF inhibitor, should be considered for patients with severe and refractory BRAFV600E histiocytoses, particularly when the disease is life-threatening.
Lucie A. Dimaggio - One of the best experts on this subject based on the ideXlab platform.
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Histiocytosis X and pregnancy
Obstetrics & Gynecology, 1995Co-Authors: Lucie A. Dimaggio, Howard A. Lippes, Richard LeeAbstract:Background: Histiocytosis X, a clinically heterogeneous infiltrating disorder, is rarely associated with pregnancy. Diabetes insipidus is a common manifestation of Histiocytosis X Case: A 27-year-old pregnant woman was diagnosed with Histiocytosis X by biopsy. At 31 weeks' gestation, she developed diabetes insipidus and required treatment with intranasal 8-D-arginine vasopressin. A hypothalamic mass was noted on magnetic resonance imaging. She delivered a 3636-g male at term by cesarean. Two months postpartum, after a motor vehicle accident, she developed a T6 sensory and motor deficit. An intramedullary spinal cord mass was diagnosed and surgically removed. She was treated postoperatively with radiation therapy to the spine and hypothalamus. Despite systemic chemotherapy, the disease progressed, and the patient died 18 months after delivery. Conclusion: Pregnancy in patients suffering from Histiocytosis X is rare. When pregnancy and Histiocytosis X do coincide, diabetes insipidus may appear or worsen. Treatment with intranasal 8-D-arginine vasopressin does not pose risks for the fetus or for premature labor.
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Histiocytosis X and pregnancy.
Obstetrics and gynecology, 1995Co-Authors: Lucie A. Dimaggio, Howard A. Lippes, R V LeeAbstract:Histiocytosis X, a clinically heterogeneous infiltrating disorder, is rarely associated with pregnancy. Diabetes insipidus is a common manifestation of Histiocytosis X. A 27-year-old pregnant woman was diagnosed with Histiocytosis X by biopsy. At 31 weeks' gestation, she developed diabetes insipidus and required treatment with intranasal 8-D-arginine vasopressin. A hypothalamic mass was noted on magnetic resonance imaging. She delivered a 363-g male at term by cesarean. Two months postpartum, after a motor vehicle accident, she developed a T6 sensory and motor deficit. An intramedullary spinal cord mass was diagnosed and surgically removed. She was treated postoperatively with radiation therapy to the spine and hypothalamus. Despite systemic chemotherapy, the disease progressed, and the patient died 18 months after delivery. Pregnancy in patients suffering from Histiocytosis X is rare. When pregnancy and Histiocytosis X do coincide, diabetes insipidus may appear or worsen. Treatment with intranasal 8-D-arginine vasopressin does not pose risks for the fetus or for premature labor.
Jennifer E. Dietrich - One of the best experts on this subject based on the ideXlab platform.
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Langerhans cell Histiocytosis of the vulva: two case reports.
Journal of Lower Genital Tract Disease, 2004Co-Authors: Jennifer E. Dietrich, C. L. Edwards, Rodolfo Laucirica, Raymond H. KaufmanAbstract:: This report describes the histopathologic results of Langerhans cell Histiocytosis of the vulva and options for treatment. We present two new cases demonstrating vulvar manifestations of disease and their course of treatment with a review of the literature. Langerhans cell Histiocytosis of the female genital tract is rare. The disease cannot be diagnosed without biopsy of cutaneous lesions. Langerhans cell Histiocytosis of the vulva is a rare disorder with few options for treatment.
Matthias Papo - One of the best experts on this subject based on the ideXlab platform.
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systemic Histiocytosis langerhans cell Histiocytosis erdheim chester disease destombes rosai dorfman disease from oncogenic mutations to inflammatory disorders
Current Oncology Reports, 2019Co-Authors: Matthias Papo, Fleur Cohenaubart, Ludovic Trefond, Adeline Bauvois, Zahir Amoura, Jeanfrancois Emile, Julien HarocheAbstract:Provide an overview of recent progress in decoding the pathogenesis and treatment of systemic histiocytoses. Advances in molecular techniques over the last few years, enabling the identification of several MAPK mutations in lesion histiocytes, have revolutionized our understanding of Histiocytosis that led to a revised classification and new treatments. Since the 2010 discovery of the BRAFV600E mutation in 57% of Langerhans cell Histiocytosis (LCH) lesions, several other kinase mutations have been found, mostly in the MAPK pathway, and also in other key signaling pathways, in LCH, Erdheim–Chester Disease (ECD) and, less frequently, Destombes–Rosai–Dorfman disease (RDD). Those revolutionary breakthroughs enhanced our understanding of the pathogenesis of Histiocytosis and led to trials with targeted therapies that demonstrated notable efficacy.
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high prevalence of myeloid neoplasms in adults with non langerhans cell Histiocytosis
Blood, 2017Co-Authors: Matthias Papo, Benjamin H Durham, Eli L Diamond, Fleur Cohenaubart, Jeanfrancois Emile, Neval Ozkaya, Damien Roosweil, Nishant Gupta, Ahmet Dogan, Gary A. UlanerAbstract:Erdheim-Chester disease (ECD) is a rare non-Langerhans cell Histiocytosis that most commonly affects adults and is driven by a high frequency of mutations in BRAF, MAP2K1, and kinases promoting MAPK signaling. Because of the relative rarity of ECD, key clinical features of the disease may not be well defined. Across a multi-institutional cohort of 189 patients with ECD and ECD overlapping with Langerhans cell Histiocytosis (so-called mixed Histiocytosis [MH]), we identified an unexpected and heretofore undescribed frequent occurrence of myeloid neoplasms among patients with ECD and MH. Some 10.1% (19/189) of patients with ECD have an overlapping myeloid neoplasm, most commonly occurring as a myeloproliferative neoplasm (MPN), myelodysplastic syndrome (MDS), or mixed MDS/MPN overlap syndrome (including chronic myelomonocytic leukemia). Consistent with this, molecular analysis frequently detected hallmark driver mutations of myeloid neoplasms (such as JAK2V617F and CALR mutations) coexisting with those characteristic of Histiocytosis (such as BRAFV600E and MAP2K1 mutations). Histiocytosis patients diagnosed with a concomitant myeloid malignancy were significantly older at diagnosis and more commonly presented with MH than those without a myeloid malignancy. In some cases, the presence of distinct kinase mutations in the Histiocytosis and myeloid neoplasm resulted in discordant and adverse responses to kinase-directed targeted therapies. These data highlight the clinical importance of evaluating adults with Histiocytosis for a concomitant myeloid neoplasm.
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Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells
Blood, 2017Co-Authors: Benjamin Durham, Matthias Papo, Damien Roos-weil, Claude Baillou, Fleur Cohen-aubart, Akihide Yoshimi, Makoto Miyara, Zofia Hélias-rodzewicz, Nathalie Terrones, Neval OzkayaAbstract:Langerhans cell Histiocytosis (LCH) and the non-LCH neoplasm Erdheim-Chester disease (ECD) are heterogeneous neoplastic disorders marked by infiltration of pathologic macrophage-, dendritic cell-, or monocyte-derived cells in tissues driven by recurrent mutations activating MAPK signaling. Although recent data indicate that at least a proportion of LCH and ECD patients have detectable activating kinase mutations in circulating hematopoietic cells and bone marrow-based hematopoietic progenitors, functional evidence of the cell of origin of Histiocytosis from actual patient materials has long been elusive. Here, we provide evidence for mutations in MAPK signaling intermediates in CD34+ cells from patients with ECD and LCH/ECD, including detection of shared origin of LCH and acute myelomonocytic leukemia driven by TET2-mutant CD34+ cell progenitors in one patient. We also demonstrate functional self-renewal capacity for CD34+ cells to drive the development of Histiocytosis in xenotransplantation assays in vivo. These data indicate that the cell of origin of at least a proportion of patients with systemic histiocytoses resides in hematopoietic progenitor cells prior to committed monocyte/macrophage or dendritic cell differentiation and provide the first example of a patient-derived xenotransplantation model for a human histiocytic neoplasm.
