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Болезнь Эрдгейма–Честера с поражением сердца: клиническое наблюдение - Журнал Терапевтический архив №7 Vario 2022
Болезнь Эрдгейма–Честера с поражением сердца: клиническое наблюдение
Латышев В.Д., Мершина Е.А., Костина И.Э., Синицын В.Е., Лукина Е.А. Болезнь Эрдгейма–Честера с поражением сердца: клиническое наблюдение. Терапевтический архив. 2022;94(7):897–902.
DOI: 10.26442/00403660.2022.07.201737
DOI: 10.26442/00403660.2022.07.201737
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Аннотация
Болезнь Эрдгейма–Честера (БЭЧ) – редкое заболевание из группы нелангергансоклеточных гистиоцитозов, характеризующееся наличием в различных органах и тканях патологических воспалительных инфильтратов, состоящих из макрофагов/моноцитов, реактивного микроокружения и полей фиброза. Поражение сердечно-сосудистой системы является одним из наиболее частых проявлений БЭЧ и может приводить к развитию жизнеугрожающих осложнений. Представляем описание клинического случая манифестации БЭЧ с поражением сердца у молодого пациента.
Ключевые слова: болезнь Эрдгейма–Честера, нелангергансоклеточный гистиоцитоз, мутация BRAF V600E, траметиниб
Keywords: Erdheim–Chester disease, non-Langerhans cell histiocytosis, mutation BRAF V600E, trametinib
Ключевые слова: болезнь Эрдгейма–Честера, нелангергансоклеточный гистиоцитоз, мутация BRAF V600E, траметиниб
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Keywords: Erdheim–Chester disease, non-Langerhans cell histiocytosis, mutation BRAF V600E, trametinib
Полный текст
Список литературы
1. Cohen-Aubart F, Emile J-F, Carrat F, et al. Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. Am J Hematol. 2018;93:E114-7. DOI:10.1002/ajh.25055
2. Pegoraro F, Papo M, Maniscalco V, et al. Erdheim–Chester disease: a rapidly evolving disease model. Leukemia. 2020;34:2840-57. DOI:10.1038/s41375-020-0944-4
3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135:1311-8. DOI:10.1182/blood.2019002766
4. Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-3. DOI:10.1182/blood-2012-05-430140
5. Emile J-F, Diamond EL, Hélias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016-9. DOI:10.1182/blood-2014-04-570937
6. Diamond EL, Durham BH, Haroche J, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discov. 2016;6:154-65. DOI:10.1158/2159-8290.CD-15-0913
7. Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929-45. DOI:10.1182/blood.2019003507
8. Cives M, Simone V, Rizzo FM, et al. Erdheim–Chester disease: A systematic review. Crit Rev Oncol Hematol. 2015;95:1-11. DOI:10.1016/j.critrevonc.2015.02.004
9. Estrada-Veras JI, O’Brien KJ, Boyd LC, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1:357-66. DOI:10.1182/bloodadvances.2016001784
10. Arnaud L, Hervier B, Néel A, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117:2778-82. DOI:10.1182/blood-2010-06-294108
11. Goyal G, Shah MV, Call TG, et al. Efficacy of biological agents in the treatment of Erdheim–Chester disease. Br J Haematol. 2018;183:520-4. DOI:10.1111/bjh.14997
12. Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim–Chester disease: a single-center series of 37 patients. Blood. 2011;117:2783-90. DOI:10.1182/blood-2010-10-313510
13. Diamond EL, Subbiah V, Lockhart AC, et al. Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis. JAMA Oncol. 2018;4:384. DOI:10.1001/jamaoncol.2017.5029
14. Diamond EL, Durham BH, Ulaner GA, et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature. 2019;567:521-4. DOI:10.1038/s41586-019-1012-y
15. Haroche J, Amoura Z, Dion E, et al. Cardiovascular Involvement, an Overlooked Feature of Erdheim-Chester Disease. Medicine (Baltimore). 2004;83:371-92. DOI:10.1097/01.md.0000145368.17934.91
16. Haroche J, Cluzel P, Toledano D, et al. Cardiac Involvement in Erdheim-Chester Disease. Circulation. 2009;119. DOI:10.1161/CIRCULATIONAHA.108.825075
17. Chester W. Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol Klin Med. 1930;279:561-602. DOI:10.1007/BF01942684
18. Gianfreda D, Palumbo AA, Rossi E, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128:2468-71. DOI:10.1182/blood-2016-07-724815
19. Ghotra AS, Thompson K, Lopez-Mattei J, et al. Cardiovascular manifestations of Erdheim–Chester disease. Echocardiography. 2019;36:229-36. DOI:10.1111/echo.14231
20. Costa IBS da S, Abdo ANR, Bittar CS, et al. Cardiovascular Manifestations of Erdheim-Chester’s Disease: A Case Series. Arq Bras Cardiol. 2018. DOI:10.5935/abc.20180218
21. Villatoro-Villar M, Bold MS, Warrington KJ, et al. Arterial involvement in Erdheim–Chester disease. Medicine (Baltimore). 2018;97:e13452. DOI:10.1097/MD.0000000000013452
22. Das JP, Xie L, Riedl CC, et al. Cardiothoracic manifestations of Erdheim-Chester disease. Br J Radiol. 2019;92:20190473. DOI:10.1259/bjr.20190473
23. Saunders IM, Goodman AM, Kurzrock R. Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease. Oncologist. 2020;25. DOI:10.1634/theoncologist.2019-0606
2. Pegoraro F, Papo M, Maniscalco V, et al. Erdheim–Chester disease: a rapidly evolving disease model. Leukemia. 2020;34:2840-57. DOI:10.1038/s41375-020-0944-4
3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135:1311-8. DOI:10.1182/blood.2019002766
4. Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-3. DOI:10.1182/blood-2012-05-430140
5. Emile J-F, Diamond EL, Hélias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016-9. DOI:10.1182/blood-2014-04-570937
6. Diamond EL, Durham BH, Haroche J, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discov. 2016;6:154-65. DOI:10.1158/2159-8290.CD-15-0913
7. Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929-45. DOI:10.1182/blood.2019003507
8. Cives M, Simone V, Rizzo FM, et al. Erdheim–Chester disease: A systematic review. Crit Rev Oncol Hematol. 2015;95:1-11. DOI:10.1016/j.critrevonc.2015.02.004
9. Estrada-Veras JI, O’Brien KJ, Boyd LC, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1:357-66. DOI:10.1182/bloodadvances.2016001784
10. Arnaud L, Hervier B, Néel A, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117:2778-82. DOI:10.1182/blood-2010-06-294108
11. Goyal G, Shah MV, Call TG, et al. Efficacy of biological agents in the treatment of Erdheim–Chester disease. Br J Haematol. 2018;183:520-4. DOI:10.1111/bjh.14997
12. Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim–Chester disease: a single-center series of 37 patients. Blood. 2011;117:2783-90. DOI:10.1182/blood-2010-10-313510
13. Diamond EL, Subbiah V, Lockhart AC, et al. Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis. JAMA Oncol. 2018;4:384. DOI:10.1001/jamaoncol.2017.5029
14. Diamond EL, Durham BH, Ulaner GA, et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature. 2019;567:521-4. DOI:10.1038/s41586-019-1012-y
15. Haroche J, Amoura Z, Dion E, et al. Cardiovascular Involvement, an Overlooked Feature of Erdheim-Chester Disease. Medicine (Baltimore). 2004;83:371-92. DOI:10.1097/01.md.0000145368.17934.91
16. Haroche J, Cluzel P, Toledano D, et al. Cardiac Involvement in Erdheim-Chester Disease. Circulation. 2009;119. DOI:10.1161/CIRCULATIONAHA.108.825075
17. Chester W. Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol Klin Med. 1930;279:561-602. DOI:10.1007/BF01942684
18. Gianfreda D, Palumbo AA, Rossi E, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128:2468-71. DOI:10.1182/blood-2016-07-724815
19. Ghotra AS, Thompson K, Lopez-Mattei J, et al. Cardiovascular manifestations of Erdheim–Chester disease. Echocardiography. 2019;36:229-36. DOI:10.1111/echo.14231
20. Costa IBS da S, Abdo ANR, Bittar CS, et al. Cardiovascular Manifestations of Erdheim-Chester’s Disease: A Case Series. Arq Bras Cardiol. 2018. DOI:10.5935/abc.20180218
21. Villatoro-Villar M, Bold MS, Warrington KJ, et al. Arterial involvement in Erdheim–Chester disease. Medicine (Baltimore). 2018;97:e13452. DOI:10.1097/MD.0000000000013452
22. Das JP, Xie L, Riedl CC, et al. Cardiothoracic manifestations of Erdheim-Chester disease. Br J Radiol. 2019;92:20190473. DOI:10.1259/bjr.20190473
23. Saunders IM, Goodman AM, Kurzrock R. Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease. Oncologist. 2020;25. DOI:10.1634/theoncologist.2019-0606
2. Pegoraro F, Papo M, Maniscalco V, et al. Erdheim–Chester disease: a rapidly evolving disease model. Leukemia. 2020;34:2840-57. DOI:10.1038/s41375-020-0944-4
3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135:1311-8. DOI:10.1182/blood.2019002766
4. Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-3. DOI:10.1182/blood-2012-05-430140
5. Emile J-F, Diamond EL, Hélias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016-9. DOI:10.1182/blood-2014-04-570937
6. Diamond EL, Durham BH, Haroche J, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discov. 2016;6:154-65. DOI:10.1158/2159-8290.CD-15-0913
7. Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929-45. DOI:10.1182/blood.2019003507
8. Cives M, Simone V, Rizzo FM, et al. Erdheim–Chester disease: A systematic review. Crit Rev Oncol Hematol. 2015;95:1-11. DOI:10.1016/j.critrevonc.2015.02.004
9. Estrada-Veras JI, O’Brien KJ, Boyd LC, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1:357-66. DOI:10.1182/bloodadvances.2016001784
10. Arnaud L, Hervier B, Néel A, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117:2778-82. DOI:10.1182/blood-2010-06-294108
11. Goyal G, Shah MV, Call TG, et al. Efficacy of biological agents in the treatment of Erdheim–Chester disease. Br J Haematol. 2018;183:520-4. DOI:10.1111/bjh.14997
12. Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim–Chester disease: a single-center series of 37 patients. Blood. 2011;117:2783-90. DOI:10.1182/blood-2010-10-313510
13. Diamond EL, Subbiah V, Lockhart AC, et al. Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis. JAMA Oncol. 2018;4:384. DOI:10.1001/jamaoncol.2017.5029
14. Diamond EL, Durham BH, Ulaner GA, et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature. 2019;567:521-4. DOI:10.1038/s41586-019-1012-y
15. Haroche J, Amoura Z, Dion E, et al. Cardiovascular Involvement, an Overlooked Feature of Erdheim-Chester Disease. Medicine (Baltimore). 2004;83:371-92. DOI:10.1097/01.md.0000145368.17934.91
16. Haroche J, Cluzel P, Toledano D, et al. Cardiac Involvement in Erdheim-Chester Disease. Circulation. 2009;119. DOI:10.1161/CIRCULATIONAHA.108.825075
17. Chester W. Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol Klin Med. 1930;279:561-602. DOI:10.1007/BF01942684
18. Gianfreda D, Palumbo AA, Rossi E, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128:2468-71. DOI:10.1182/blood-2016-07-724815
19. Ghotra AS, Thompson K, Lopez-Mattei J, et al. Cardiovascular manifestations of Erdheim–Chester disease. Echocardiography. 2019;36:229-36. DOI:10.1111/echo.14231
20. Costa IBS da S, Abdo ANR, Bittar CS, et al. Cardiovascular Manifestations of Erdheim-Chester’s Disease: A Case Series. Arq Bras Cardiol. 2018. DOI:10.5935/abc.20180218
21. Villatoro-Villar M, Bold MS, Warrington KJ, et al. Arterial involvement in Erdheim–Chester disease. Medicine (Baltimore). 2018;97:e13452. DOI:10.1097/MD.0000000000013452
22. Das JP, Xie L, Riedl CC, et al. Cardiothoracic manifestations of Erdheim-Chester disease. Br J Radiol. 2019;92:20190473. DOI:10.1259/bjr.20190473
23. Saunders IM, Goodman AM, Kurzrock R. Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease. Oncologist. 2020;25. DOI:10.1634/theoncologist.2019-0606
________________________________________________
2. Pegoraro F, Papo M, Maniscalco V, et al. Erdheim–Chester disease: a rapidly evolving disease model. Leukemia. 2020;34:2840-57. DOI:10.1038/s41375-020-0944-4
3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135:1311-8. DOI:10.1182/blood.2019002766
4. Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-3. DOI:10.1182/blood-2012-05-430140
5. Emile J-F, Diamond EL, Hélias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016-9. DOI:10.1182/blood-2014-04-570937
6. Diamond EL, Durham BH, Haroche J, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discov. 2016;6:154-65. DOI:10.1158/2159-8290.CD-15-0913
7. Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929-45. DOI:10.1182/blood.2019003507
8. Cives M, Simone V, Rizzo FM, et al. Erdheim–Chester disease: A systematic review. Crit Rev Oncol Hematol. 2015;95:1-11. DOI:10.1016/j.critrevonc.2015.02.004
9. Estrada-Veras JI, O’Brien KJ, Boyd LC, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1:357-66. DOI:10.1182/bloodadvances.2016001784
10. Arnaud L, Hervier B, Néel A, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117:2778-82. DOI:10.1182/blood-2010-06-294108
11. Goyal G, Shah MV, Call TG, et al. Efficacy of biological agents in the treatment of Erdheim–Chester disease. Br J Haematol. 2018;183:520-4. DOI:10.1111/bjh.14997
12. Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim–Chester disease: a single-center series of 37 patients. Blood. 2011;117:2783-90. DOI:10.1182/blood-2010-10-313510
13. Diamond EL, Subbiah V, Lockhart AC, et al. Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis. JAMA Oncol. 2018;4:384. DOI:10.1001/jamaoncol.2017.5029
14. Diamond EL, Durham BH, Ulaner GA, et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature. 2019;567:521-4. DOI:10.1038/s41586-019-1012-y
15. Haroche J, Amoura Z, Dion E, et al. Cardiovascular Involvement, an Overlooked Feature of Erdheim-Chester Disease. Medicine (Baltimore). 2004;83:371-92. DOI:10.1097/01.md.0000145368.17934.91
16. Haroche J, Cluzel P, Toledano D, et al. Cardiac Involvement in Erdheim-Chester Disease. Circulation. 2009;119. DOI:10.1161/CIRCULATIONAHA.108.825075
17. Chester W. Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol Klin Med. 1930;279:561-602. DOI:10.1007/BF01942684
18. Gianfreda D, Palumbo AA, Rossi E, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128:2468-71. DOI:10.1182/blood-2016-07-724815
19. Ghotra AS, Thompson K, Lopez-Mattei J, et al. Cardiovascular manifestations of Erdheim–Chester disease. Echocardiography. 2019;36:229-36. DOI:10.1111/echo.14231
20. Costa IBS da S, Abdo ANR, Bittar CS, et al. Cardiovascular Manifestations of Erdheim-Chester’s Disease: A Case Series. Arq Bras Cardiol. 2018. DOI:10.5935/abc.20180218
21. Villatoro-Villar M, Bold MS, Warrington KJ, et al. Arterial involvement in Erdheim–Chester disease. Medicine (Baltimore). 2018;97:e13452. DOI:10.1097/MD.0000000000013452
22. Das JP, Xie L, Riedl CC, et al. Cardiothoracic manifestations of Erdheim-Chester disease. Br J Radiol. 2019;92:20190473. DOI:10.1259/bjr.20190473
23. Saunders IM, Goodman AM, Kurzrock R. Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease. Oncologist. 2020;25. DOI:10.1634/theoncologist.2019-0606
Авторы
В.Д. Латышев*1, Е.А. Мершина2, И.Э. Костина1, В.Е. Синицын2, Е.А. Лукина1
1 ФГБУ «Национальный медицинский исследовательский центр гематологии» Минздарава России, Москва, Россия;
2 ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова», Москва, Россия
*LatyshevVD@gmail.com
1 National Research Center for Hematology, Moscow, Russia;
2 Lomonosov Moscow State University, Moscow, Russia
*LatyshevVD@gmail.com
1 ФГБУ «Национальный медицинский исследовательский центр гематологии» Минздарава России, Москва, Россия;
2 ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова», Москва, Россия
*LatyshevVD@gmail.com
________________________________________________
1 National Research Center for Hematology, Moscow, Russia;
2 Lomonosov Moscow State University, Moscow, Russia
*LatyshevVD@gmail.com
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