Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement
Introduction. Myelodysplastic/myeloproliferative neoplasms represent a group of rare hematologic malignancies with concomitant characteristics of two different disorders. There are cytopenias and cytoses with dysplastic morphology in the circulating blood and hyperplastic bone marrow, respectively....
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2021-01-01
|
| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2021/0042-84501900011C.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850255859631783936 |
|---|---|
| author | Čolović Nataša Denčić-Fekete Marija Stamatović Dragana Leković Danijela Gotić Mirjana |
| author_facet | Čolović Nataša Denčić-Fekete Marija Stamatović Dragana Leković Danijela Gotić Mirjana |
| author_sort | Čolović Nataša |
| collection | DOAJ |
| description | Introduction. Myelodysplastic/myeloproliferative neoplasms represent a group of rare hematologic malignancies with concomitant characteristics of two different disorders. There are cytopenias and cytoses with dysplastic morphology in the circulating blood and hyperplastic bone marrow, respectively. Many cytogenetic and molecular features have been found in this rare entity, but t(2;11)(p21;q23)del(5) (q22;q33) has not been described so far. Case report. We present a patient with myelodysplastic syndrome, subtype refractory anemia without ringed sideroblasts, with unique translocation t(2;11)(p21;q23) associated with del(5)(q22;q33) in the karyotype. Fluorescence in situ hybridization analysis did not detect mixed-lineage leukemia (MLL) rearrangement, which can be found in other hematologic malignancies with this translocation. After a year on supportive treatment with packed red cells, thrombocytosis developed with a concurrent increase in white blood cells and the Janus kinase-2 gene mutation. This confirmed the presence of myelodysplastic/myeloproliferative neoplasms. Due to the high platelet count, the cerebrovascular insult has occurred. The patient was treated supportively and with lenalidomide. After introducing the lenalidomide steadily, the patientʼs condition improved, the peripheral blood count normalized, and he became transfusion independent. Conclusion. Patients with the cytogenetic finding of t(2;11)(p21;q23) associated with del(5)(q22;q33) but without MLL rearrangement and with Ja-nus kinase-2 gene mutation presence, respond to lenalidomide therapy and have relatively longer overall survival. |
| format | Article |
| id | doaj-art-4c80ebe426ee4994bc3bceb41baf15d4 |
| institution | OA Journals |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-4c80ebe426ee4994bc3bceb41baf15d42025-08-20T01:56:46ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202021-01-0178225125410.2298/VSP190127011C0042-84501900011CMyelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangementČolović Nataša0Denčić-Fekete Marija1Stamatović Dragana2Leković Danijela3https://orcid.org/0000-0002-6194-8298Gotić Mirjana4https://orcid.org/0000-0002-8590-0328Clinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaClinical Center of Serbia, Clinic for Hematology, Belgrade, SerbiaMilitary Medical Academy, Clinic for Hematology, Belgrade, Serbia + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, SerbiaClinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaClinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaIntroduction. Myelodysplastic/myeloproliferative neoplasms represent a group of rare hematologic malignancies with concomitant characteristics of two different disorders. There are cytopenias and cytoses with dysplastic morphology in the circulating blood and hyperplastic bone marrow, respectively. Many cytogenetic and molecular features have been found in this rare entity, but t(2;11)(p21;q23)del(5) (q22;q33) has not been described so far. Case report. We present a patient with myelodysplastic syndrome, subtype refractory anemia without ringed sideroblasts, with unique translocation t(2;11)(p21;q23) associated with del(5)(q22;q33) in the karyotype. Fluorescence in situ hybridization analysis did not detect mixed-lineage leukemia (MLL) rearrangement, which can be found in other hematologic malignancies with this translocation. After a year on supportive treatment with packed red cells, thrombocytosis developed with a concurrent increase in white blood cells and the Janus kinase-2 gene mutation. This confirmed the presence of myelodysplastic/myeloproliferative neoplasms. Due to the high platelet count, the cerebrovascular insult has occurred. The patient was treated supportively and with lenalidomide. After introducing the lenalidomide steadily, the patientʼs condition improved, the peripheral blood count normalized, and he became transfusion independent. Conclusion. Patients with the cytogenetic finding of t(2;11)(p21;q23) associated with del(5)(q22;q33) but without MLL rearrangement and with Ja-nus kinase-2 gene mutation presence, respond to lenalidomide therapy and have relatively longer overall survival.http://www.doiserbia.nb.rs/img/doi/0042-8450/2021/0042-84501900011C.pdfmyelodysplastic syndromethrombocytosismyeloproliferative disordersjanus kinase-2mutationantineoplastic agentslenalidomidetreatment outcome |
| spellingShingle | Čolović Nataša Denčić-Fekete Marija Stamatović Dragana Leković Danijela Gotić Mirjana Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement Vojnosanitetski Pregled myelodysplastic syndrome thrombocytosis myeloproliferative disorders janus kinase-2 mutation antineoplastic agents lenalidomide treatment outcome |
| title | Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement |
| title_full | Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement |
| title_fullStr | Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement |
| title_full_unstemmed | Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement |
| title_short | Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement |
| title_sort | myelodysplastic myeloproliferative neoplasm with t 2 11 p21 q23 del 5 q22 q33 but without mixed lineage leukemia mll rearrangement |
| topic | myelodysplastic syndrome thrombocytosis myeloproliferative disorders janus kinase-2 mutation antineoplastic agents lenalidomide treatment outcome |
| url | http://www.doiserbia.nb.rs/img/doi/0042-8450/2021/0042-84501900011C.pdf |
| work_keys_str_mv | AT colovicnatasa myelodysplasticmyeloproliferativeneoplasmwitht211p21q23del5q22q33butwithoutmixedlineageleukemiamllrearrangement AT dencicfeketemarija myelodysplasticmyeloproliferativeneoplasmwitht211p21q23del5q22q33butwithoutmixedlineageleukemiamllrearrangement AT stamatovicdragana myelodysplasticmyeloproliferativeneoplasmwitht211p21q23del5q22q33butwithoutmixedlineageleukemiamllrearrangement AT lekovicdanijela myelodysplasticmyeloproliferativeneoplasmwitht211p21q23del5q22q33butwithoutmixedlineageleukemiamllrearrangement AT goticmirjana myelodysplasticmyeloproliferativeneoplasmwitht211p21q23del5q22q33butwithoutmixedlineageleukemiamllrearrangement |