Terapevticheskii arkhivTerapevticheskii arkhivТерапевтический архив0040-36602309-5342LLC Obyedinennaya Redaktsiya32029Editorial articleПередовая статьяShort CommunicationA rare case of myeloproliferative disease with t(8;13)(p11;q12) associated with eosinophilia and lymphadenopathyРедкий случай миелопролиферативного заболевания с t(8;13)(p11;q12), протекающего с эозинофилией и лимфаденопатиейTsybaN NЦыбаН НTurkinaA GТуркинаА ГChelyshevaE YuЧелышеваЕ ЮNemchenkoI SНемченкоИ СKovriginaA MКовригинаА МObukhovaT NОбуховаТ НUrnovaE SУрноваЕ СKuzminaL AКузьминаЛ АSavchenkoV GСавченкоВ ГГематологический научный центр Минздрава России15072016887VOL 88, NO7 ()ТОМ 88, №7 (2016)9810310042020Copyright ©; 2016, Consilium MedicumCopyright ©; 2016, ООО "Консилиум Медикум"2016Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc-sa/4.0https://ter-arkhiv.ru/0040-3660/article/view/32029

Myeloproliferative disease associated with FGFR1 rearrangement (8p11), which is included in the 2008 WHO Classification of Myeloid Neoplasms, is a rare and extremely aggressive abnormality. The paper describes a clinical case of a 39-year-old female patient who was detected to have leukocytosis (as high as 47.2·109/l), absolute eosinophilia (as high as 3.1·109/l), and enlarged peripheral lymph nodes during her visit to a doctor. The bone marrow (BM) showed the changes typically encountered in myeloproliferative disease with eosinophilia. The patient was found to have t(8;13)(p11;q12) translocation associated with the rearrangement of the FGFR1 gene located at the 8p11 locus. Molecular and cytogenetic examinations failed to reveal BCR-ABL chimeric transcript, Jak2 V617F mutation, and deletions and translocations involving PDGFRA (4q12) and PDGFRB (5q32-33). The similar changes in the karyotype were also found in the lymph node cells. The undertaken treatment with hydroxyurea and the tyrosine kinase inhibitor dasatinib turned out to be ineffective. The patient underwent allogeneic BM transplantation from a HLA-identical sibling. Graft rejection occurred 6 months later. Allogeneic BM transplantation from the same donor (100% donor chimerism; FGFR1/8р11 translocation was not detected), which was complicated by the development of chronic graft-versus-host reaction, was performed again in March 2015. The patient is being followed up and continues to receive immunosuppressive therapy.

Аннотация Миелопролиферативное заболевание, ассоциированное с реаранжировкой гена FGFR1 (8р11), включенное в классификацию миелоидных новообразований ВОЗ, 2008 г., - редко встречающаяся патология, протекающая чрезвычайно агрессивно. Приведено клиническое наблюдение 39-летней пациентки, у которой при обращении к врачу выявлены лейкоцитоз (до 47,2·109/л), абсолютная эозинофилия (до 3,1·109/л), увеличение периферических лимфатических узлов. В костном мозге (КМ) наблюдались изменения, характерные для миелопролиферативного заболевания с эозинофилией. У больной выявлена транслокация t(8;13)(p11;q12), связанная с перестройкой гена FGFR1, расположенного в локусе 8p11. При молекулярном и цитогенетическом исследованиях химерный транскрипт BCR-ABL, мутация V617F гена Jak2, делеции и транслокации с вовлечением локусов генов PDGFRA (4q12) и PDGFRB (5q32-33) не обнаружены. Аналогичные изменения кариотипа выявлены и в клетках лимфатического узла. Предпринятое лечение больной гидроксимочевиной и ингибитором тирозинкиназ дазатинибом оказалось неэффективным. Выполнена трансплантация аллогенного КМ от сиблинга, совместимого по HLA. Спустя 6 мес произошло отторжение трансплантата. В марте 2015 г. проведена повторная аллотрансплантация КМ от того же донора (100% донорский химеризм, транслокация FGFR1/8р11 не выявляется), осложнившаяся развитием хронической реакции трансплантат против хозяина. Пациентка остается под наблюдением, продолжает получать иммуносупрессивную терапию.

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