scholarly journals Late-onset Erythropoietic Protoporphyria Associated with Myelodysplastic Syndrome Treated with Azacitidine

2018 ◽  
Vol 98 (2) ◽  
pp. 275-277 ◽  
Author(s):  
A Yoshioka ◽  
S Fujiwara ◽  
H Kawano ◽  
H Nakano ◽  
S Taketani ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Late Onset ◽  
Erythropoietic Protoporphyria

Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene

2016 ◽  
Vol 44 (6) ◽  
pp. 651-655 ◽  
Author(s):  
Hiromi Suzuki ◽  
Katsuko Kikuchi ◽  
Noriko Fukuhara ◽  
Hajime Nakano ◽  
Setsuya Aiba
Keyword(s):  
Myelodysplastic Syndrome ◽  
Late Onset ◽  
Erythropoietic Protoporphyria

A case of late onset erythropoietic protoporphyria associated with myelodysplastic syndrome treated by the combination of beta carotene and azacitidine

2013 ◽  
Vol 92 (10) ◽  
pp. 1415-1416 ◽  
Author(s):  
Yoshitaka Nishikawa ◽  
Shinya Okuda ◽  
Chiaki Takebayashi ◽  
Tetsuya Tanimoto ◽  
Masahiro Kami ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Late Onset ◽  
Beta Carotene ◽  
Erythropoietic Protoporphyria

scholarly journals Photosensitivity and Acute Liver Insufficiency in Late-Onset Erythropoietic Protoporphyria with a Chromosome 18q Abnormality

2012 ◽  
Vol 4 (2) ◽  
pp. 144-149 ◽  
Author(s):  
Yuka Oshikawa ◽  
Satoshi Fukushima ◽  
Taiga Miyake ◽  
Takeshi Kawaguchi ◽  
Kenta Motomura ◽  
...  
Keyword(s):  
Late Onset ◽  
Erythropoietic Protoporphyria ◽  
Liver Insufficiency ◽  
Chromosome 18Q

scholarly journals Leukemogenesis Caused by Incapacitated GATA-1 Function

2004 ◽  
Vol 24 (24) ◽  
pp. 10814-10825 ◽  
Author(s):  
Ritsuko Shimizu ◽  
Takashi Kuroha ◽  
Osamu Ohneda ◽  
Xiaoqing Pan ◽  
Kinuko Ohneda ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Myelodysplastic Syndrome ◽  
X Chromosome ◽  
De Novo ◽  
Late Onset ◽  
Lymphocytic Leukemia ◽  
Wild Type ◽  
Hematopoietic Progenitors ◽  
Low Levels ◽  
Acute Crisis

ABSTRACT GATA-1 is essential for the development of erythroid and megakaryocytic lineages. We found that GATA-1 gene knockdown female (GATA-1.05/X) mice frequently develop a hematopoietic disorder resembling myelodysplastic syndrome that is characterized by the accumulation of progenitors expressing low levels of GATA-1. In this study, we demonstrate that GATA-1.05/X mice suffer from two distinct types of acute leukemia, an early-onset c-Kit-positive nonlymphoid leukemia and a late-onset B-lymphocytic leukemia. Since GATA-1 is an X chromosome gene, two types of hematopoietic cells reside within heterozygous GATA-1 knockdown mice, bearing either an active wild-type GATA-1 allele or an active mutant GATA-1.05 allele. In the hematopoietic progenitors with the latter allele, low-level GATA-1 expression is sufficient to support survival and proliferation but not differentiation, leading to the accumulation of progenitors that are easily targeted by oncogenic stimuli. Since such leukemia has not been observed in GATA-1-null/X mutant mice, we conclude that the residual GATA-1 activity in the knockdown mice contributes to the development of the malignancy. This de novo model recapitulates the acute crisis found in preleukemic conditions in humans.

scholarly journals Multiple Xanthogranulomas in an Adult Patient with Myelodysplastic Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Marta Martínez-García ◽  
Nicolás Silvestre-Torner ◽  
Antonio Aguilar-Martínez ◽  
Fernando Burgos-Lázaro
Keyword(s):  
Myelodysplastic Syndrome ◽  
Adult Patient ◽  
Late Onset ◽  
Clinical Form ◽  
History Of

Adult multiple xanthogranuloma (XG) is a rare late-onset variant of juvenile XG. It is characterized by the appearance of papules or nodules located preferably on the trunk. A case of a 54-year-old man with myelodysplastic syndrome is presented as a history of interest, who consulted due to the appearance of multiple brownish papules distributed mainly in the trunk. So far, there are only 22 cases of this clinical form reported in the literature, 9 of them associated with malignant hematological processes. We highlight the importance of this entity as a possible cutaneous marker of blood dyscrasias.

scholarly journals Evidence-Based Minireview: Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes: a focused review

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 460-464
Author(s):  
Mrinal M. Patnaik ◽  
Terra Lasho
Keyword(s):  
Myelodysplastic Syndrome ◽  
Late Onset ◽  
Myeloproliferative Neoplasm ◽  
Treatment Modalities ◽  
Juvenile Myelomonocytic Leukemia ◽  
Ras Pathway ◽  
Overlap Syndromes ◽  
Recurrent Mutations ◽  
Male Preponderance ◽  
Myelomonocytic Leukemia

Abstract Myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes are unique myeloid neoplasms, with overlapping features of MDS and MPN. They consist of four adult onset entities including chronic myelomonocytic leukemia (CMML), MDS/MPN-ring sideroblasts-thrombocytosis (MDS/MPN-RS-T), BCR-ABL1 negative atypical chronic myeloid leukemia (aCML) and MDS/MPN-unclassifiable (MDS/MPN-U); with juvenile myelomonocytic leukemia (JMML) being the only pediatric onset entity. Among these overlap neoplasms, CMML is the most frequent and is hallmarked by the presence of sustained peripheral blood monocytosis with recurrent mutations involving TET2 (60%), SRSF2 (50%) and ASXL1 (40%); with RAS pathway mutations and JAK2V617F being relatively enriched in proliferative CMML subtypes (WBC ≥13 × 109/L). CMML usually presents in the 7th decade of life, with a male preponderance and is associated with a median overall survival of <36 months. Adverse prognosticators in CMML include increasing age, high WBC, presence of circulating immature myeloid cells, anemia, thrombocytopenia and truncating ASXL1 mutations. While allogeneic stem cell transplantation remains the only curative option, given the late onset of this neoplasm and high frequency of comorbidities, most patients remain ineligible. Hypomethylating agents such as azacitidine, decitabine and oral decitabine/cedazuridine have been US FDA approved for the management of CMML, with overall response rates of 40-50% and complete remission rates of <20%. While these agents epigenetically restore hematopoiesis in a subset of responding patients, they do not impact mutational allele burdens and eventual disease progression to AML remains inevitable. Newer treatment modalities exploiting epigenetic, signaling and splicing abnormalities commonly seen in CMML are much needed.

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