Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q
Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2018/6819172 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832551988654505984 |
|---|---|
| author | Sukesh Manthri Naresh K. Vasireddy Sindhura Bandaru Swati Pathak |
| author_facet | Sukesh Manthri Naresh K. Vasireddy Sindhura Bandaru Swati Pathak |
| author_sort | Sukesh Manthri |
| collection | DOAJ |
| description | Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation showed Hgb of 9.3 gm/dl, hematocrit of 28%, platelet count of 36,000 K/cmm, and WBC of 1.8 K/cmm with an ANC of 0.8 K/cmm. A slightly elevated bilirubin of 1.2 mg/dl spurred a hemolytic workup. Peripheral smear showed frequent elliptocytes, teardrop cells, schistocytes, and occasional spherocytes. Bone marrow biopsy did not show significant fibrosis to explain the elliptocytosis. Cytogenetics showed 20q deletion, and later, he was started on therapy for intermediate risk MDS. Bone marrow biopsy after completion of 6 cycles showed complete cytogenetic remission with significant improvement in elliptocytosis. Elliptocytosis in the setting of MDS has rarely been reported, and association with 20q deletion is even rarer. Animal studies have shown that haploinsufficiency of L3MBTL1 contributes to some (20q−) myeloproliferative neoplasms and myelodysplastic syndromes by affecting erythroid differentiation. Our case report raises interesting questions: Does MDS with rarely reported elliptocytosis indicate a disease process that is different from the usual 20q deletion? Is haploinsufficiency of L3MBTL1 responsible for this manifestation? |
| format | Article |
| id | doaj-art-f23d280bd33b40d0a89b407dd2a2b3b4 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-f23d280bd33b40d0a89b407dd2a2b3b42025-02-03T06:00:01ZengWileyCase Reports in Hematology2090-65602090-65792018-01-01201810.1155/2018/68191726819172Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20qSukesh Manthri0Naresh K. Vasireddy1Sindhura Bandaru2Swati Pathak3Southern Illinois University, Springfield, IL, USADr. NTR University of Health Sciences, Vijayawada, IndiaSouthern Illinois University, Springfield, IL, USASouthern Illinois University, Springfield, IL, USAElliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation showed Hgb of 9.3 gm/dl, hematocrit of 28%, platelet count of 36,000 K/cmm, and WBC of 1.8 K/cmm with an ANC of 0.8 K/cmm. A slightly elevated bilirubin of 1.2 mg/dl spurred a hemolytic workup. Peripheral smear showed frequent elliptocytes, teardrop cells, schistocytes, and occasional spherocytes. Bone marrow biopsy did not show significant fibrosis to explain the elliptocytosis. Cytogenetics showed 20q deletion, and later, he was started on therapy for intermediate risk MDS. Bone marrow biopsy after completion of 6 cycles showed complete cytogenetic remission with significant improvement in elliptocytosis. Elliptocytosis in the setting of MDS has rarely been reported, and association with 20q deletion is even rarer. Animal studies have shown that haploinsufficiency of L3MBTL1 contributes to some (20q−) myeloproliferative neoplasms and myelodysplastic syndromes by affecting erythroid differentiation. Our case report raises interesting questions: Does MDS with rarely reported elliptocytosis indicate a disease process that is different from the usual 20q deletion? Is haploinsufficiency of L3MBTL1 responsible for this manifestation?http://dx.doi.org/10.1155/2018/6819172 |
| spellingShingle | Sukesh Manthri Naresh K. Vasireddy Sindhura Bandaru Swati Pathak Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q Case Reports in Hematology |
| title | Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q |
| title_full | Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q |
| title_fullStr | Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q |
| title_full_unstemmed | Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q |
| title_short | Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q |
| title_sort | acquired elliptocytosis as a manifestation of myelodysplastic syndrome associated with deletion of chromosome 20q |
| url | http://dx.doi.org/10.1155/2018/6819172 |
| work_keys_str_mv | AT sukeshmanthri acquiredelliptocytosisasamanifestationofmyelodysplasticsyndromeassociatedwithdeletionofchromosome20q AT nareshkvasireddy acquiredelliptocytosisasamanifestationofmyelodysplasticsyndromeassociatedwithdeletionofchromosome20q AT sindhurabandaru acquiredelliptocytosisasamanifestationofmyelodysplasticsyndromeassociatedwithdeletionofchromosome20q AT swatipathak acquiredelliptocytosisasamanifestationofmyelodysplasticsyndromeassociatedwithdeletionofchromosome20q |