5q-症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/05/13 22:49:43」(JST)
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Chromosome 5q deletion syndrome |
Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome
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Classification and external resources |
ICD-O |
M9986/3 |
OMIM |
153550 |
DiseasesDB |
34573 |
Chromosome 5q deletion syndrome (chromosome 5q monosomy, 5q- syndrome) is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q31.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome.
It should not be confused with "partial trisomy 5q", though both conditions have been observed in the same family.[1]
This should not be confused with cri du chat (5p deletion) syndrome which is a deletion of the short arm of the 5th chromosome.
Contents
- 1 Characteristics
- 2 Causes
- 3 Histology
- 4 Treatment
- 5 Prognosis
- 6 References
- 7 External links
Characteristics
The 5q-syndrome is characterized by macrocytic anemia, often a moderate thrombocytosis, erythroblastopenia, megakaryocyte hyperplasia with nuclear hypolobation, and an isolated interstitial deletion of chromosome 5. The 5q- syndrome is found predominantly in females of advanced age.
Causes
Several genes in the deleted region appear to play a role in the pathogenesis of 5q-syndrome.[2][3] Haploinsufficiency of RPS14 plays a central role, and contributes to the anemia via both p53-dependent and p53-independent tumor suppressor effects.[3] Other genes at this region include miR-145 and miR-146a, whose deletion is associated with the megakaryocytic dysplasia and thrombocytosis seen in 5q- syndrome;[4] SPARC, which has antiproliferative and antiangiogenic effects; and the candidate tumor suppressors EGR1, CTNNA1, and CDC25C.[3]
Histology
This syndrome affects bone marrow cells causing treatment-resistant anemia and myelodysplastic syndromes that may lead to acute myelogenous leukemia. Examination of the bone marrow shows characteristic changes in the megakaryocytes. They are more numerous than usual, small and mononuclear. There may be accompanying erythroid hypoplasia in the bone marrow.[5]
Treatment
Lenalidomide has activity in 5q- syndrome[6] and is FDA approved for red blood cell (RBC) transfusion-dependent anemia due to low or intermediate-1 (int-1) risk myelodysplastic syndrome (MDS) associated with chromosome 5q deletion with or without additional cytogenetic abnormalities.[7] There are several possible mechanisms that link the haploinsufficiency molecular lesions with lenalidomide sensitivity.[3][8]
Prognosis
Most patients have a stable clinical course but are often transfusion dependent.
References
- ^ Lazjuk GI; Lurie IW; Kirillova IA et al. (August 1985). "Partial trisomy 5q and partial monosomy 5q within the same family". Clin. Genet. 28 (2): 122–9. doi:10.1111/j.1399-0004.1985.tb00371.x. PMID 4042393.
- ^ Ebert BL; Pretz J; Bosco J et al. (January 2008). "Identification of RPS14 as a 5q- syndrome gene by RNA interference screen". Nature 451 (7176): 335–9. doi:10.1038/nature06494. PMID 18202658.
- ^ a b c d Nakhoul H, Ke J, Zhou X et al. (2014). "Ribosomopathies: Mechanisms of disease". Clinical Medicine Insights: Blood Disorders 7: 7–16. doi:10.4137/CMBD.S16952. PMC 4251057. PMID 25512719.
- ^ Starczynowski DT; Kuchenbauer F; Argiropoulos B et al. (January 2010). "Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype". Nature Medicine 16 (1): 49–58. doi:10.1038/nm.2054. PMID 19898489.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 5q- syndrome -153550
- ^ List A; Dewald G; Bennett J et al. (October 2006). "Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion". N. Engl. J. Med. 355 (14): 1456–65. doi:10.1056/NEJMoa061292. PMID 17021321.
- ^ Raza, A; Reeves, J. A.; Feldman, E. J.; Dewald, G. W.; Bennett, J. M.; Deeg, H. J.; Dreisbach, L; Schiffer, C. A.; Stone, R. M.; Greenberg, P. L.; Curtin, P. T.; Klimek, V. M.; Shammo, J. M.; Thomas, D; Knight, R. D.; Schmidt, M; Wride, K; Zeldis, J. B.; List, A. F. (2008). "Phase 2 study of lenalidomide in transfusion-dependent, low-risk, and intermediate-1 risk myelodysplastic syndromes with karyotypes other than deletion 5q". Blood 111 (1): 86–93. doi:10.1182/blood-2007-01-068833. PMID 17893227. edit
- ^ Voutsadakis IA; Cairoli A (2012). "A critical review of the molecular pathophysiology of lenalidomide sensitivity in 5q - myelodysplastic syndromes". Leukemia & Lymphoma 53 (5): 779–88. doi:10.3109/10428194.2011.623255. PMID 21955212.
External links
- 5q- syndrome at NIH's Office of Rare Diseases
Chromosome abnormalities (Q90–Q99, 758)
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Autosomal |
Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome/Trisomy 22
- Trisomy 16
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Monosomies/deletions |
- 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome
- Wolf–Hirschhorn syndrome
- Cri du chat/Chromosome 5q deletion syndrome
- Williams syndrome
- Jacobsen syndrome
- Miller–Dieker syndrome/Smith–Magenis syndrome
- DiGeorge syndrome
- 22q11.2 distal deletion syndrome
- 22q13 deletion syndrome
- genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)
- Distal 18q-/Proximal 18q-
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X/Y linked |
Monosomy |
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Trisomy/tetrasomy,
other karyotypes/mosaics |
- Klinefelter syndrome (47,XXY)
- 48,XXYY
- 48,XXXY
- 49,XXXYY
- 49,XXXXY
- Triple X syndrome (47,XXX)
- 48,XXXX
- 49,XXXXX
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Translocations |
Leukemia/lymphoma |
Lymphoid |
- Burkitt's lymphoma t(8 MYC;14 IGH)
- Follicular lymphoma t(14 IGH;18 BCL2)
- Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
- Anaplastic large cell lymphoma t(2 ALK;5 NPM1)
- Acute lymphoblastic leukemia
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Myeloid |
- Philadelphia chromosome t(9 ABL; 22 BCR)
- Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
- Acute promyelocytic leukemia t(15 PML,17 RARA)
- Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
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Other |
- Ewing's sarcoma t(11 FLI1; 22 EWS)
- Synovial sarcoma t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Myxoid liposarcoma t(12 DDIT3; 16 FUS)
- Desmoplastic small round cell tumor t(11 WT1; 22 EWS)
- Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
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Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
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Index of developmental medicine
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Description |
- Embryology
- Cell lines
- endoderm
- mesoderm
- ectoderm
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Disease |
- Due to toxins
- Syndromes
- Chromosomal
- Neonate
- Twins
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Myeloid hematological malignancy/leukemia histology (ICD-O 9590–9989, C81–C96, 200–208)
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CFU-GM/
and other granulocytes |
CFU-GM |
Myelocyte |
AML: |
- Acute myeloblastic leukemia
- M0
- M1
- M2
- APL/M3
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MP |
- Chronic neutrophilic leukemia
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Monocyte |
AML |
- AMoL/M5
- Myeloid dendritic cell leukemia
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CML |
- Philadelphia chromosome
- Accelerated phase chronic myelogenous leukemia
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Myelomonocyte |
AML |
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MD-MP |
- Juvenile myelomonocytic leukemia
- Chronic myelomonocytic leukemia
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Other |
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CFU-Baso |
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CFU-Eos |
AML |
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MP |
- Chronic eosinophilic leukemia/Hypereosinophilic syndrome
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MEP |
CFU-Meg |
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CFU-E |
AML |
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MP |
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MD |
- Refractory anemia
- Refractory anemia with excess of blasts
- Chromosome 5q deletion syndrome
- Sideroblastic anemia
- Paroxysmal nocturnal hemoglobinuria
- Refractory cytopenia with multilineage dysplasia
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CFU-Mast |
Mastocytoma |
- Mast cell leukemia
- Mast cell sarcoma
- Systemic mastocytosis
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Mastocytosis: |
- Diffuse cutaneous mastocytosis
- Erythrodermic mastocytosis
- Adult type of generalized eruption of cutaneous mastocytosis
- Urticaria pigmentosa
- Mast cell sarcoma
- Solitary mastocytoma
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Systemic mastocytosis |
- Xanthelasmoidal mastocytosis
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Multiple/unknown |
AML |
- Acute panmyelosis with myelofibrosis
- Myeloid sarcoma
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MP |
- Myelofibrosis
- Acute biphenotypic leukaemia
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Index of cells from bone marrow
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Description |
- Immune system
- Cells
- Physiology
- coagulation
- proteins
- granule contents
- colony-stimulating
- heme and porphyrin
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Disease |
- Red blood cell
- Monocyte and granulocyte
- Neoplasms and cancer
- Histiocytosis
- Symptoms and signs
- Blood tests
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Treatment |
- Transfusion
- Drugs
- thrombosis
- bleeding
- other
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UpToDate Contents
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English Journal
- Mutation of kri1l causes definitive hematopoiesis failure via PERK-dependent excessive autophagy induction.
- Jia XE1, Ma K2, Xu T2, Gao L2, Wu S2, Fu C2, Zhang W2, Wang Z2, Liu K3, Dong M2, Jing C2, Ren C2, Dong Z2, Chen Y4, Jin Y4, Huang Q4, Chang X5, Deng M2, Li L6, Luo L6, Zhu J7, Dang Y3, Chang HC8, Zon LI9, Zhou Y9, Chen S10, Pan W5.
- Cell research.Cell Res.2015 Jul 3. doi: 10.1038/cr.2015.81. [Epub ahead of print]
- Dysregulation of ribosome biogenesis causes human diseases, such as Diamond-Blackfan anemia, del (5q-) syndrome and bone marrow failure. However, the mechanisms of blood disorders in these diseases remain elusive. Through genetic mapping, molecular cloning and mechanism characterization of the zebra
- PMID 26138676
- The molecular pathogenesis of the myelodysplastic syndromes.
- Pellagatti A1, Boultwood J1.
- European journal of haematology.Eur J Haematol.2015 Jul;95(1):3-15. doi: 10.1111/ejh.12515. Epub 2015 Feb 20.
- Recent studies have greatly illuminated the genomic landscape of the myelodysplastic syndromes (MDS), and the pace of discovery is accelerating. The most common mutations found in MDS occur in genes involved in RNA splicing (including SF3B1, SRSF2, U2AF1, and ZRSR2) and epigenetic modification (incl
- PMID 25645650
- CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).
- Bello E1,2, Pellagatti A1,2, Shaw J1,2, Mecucci C3, Kušec R4, Killick S5, Giagounidis A6, Raynaud S7, Calasanz MJ8, Fenaux P9, Boultwood J1,2.
- British journal of haematology.Br J Haematol.2015 Jun 18. doi: 10.1111/bjh.13563. [Epub ahead of print]
- Mutations of CSNK1A1, a gene mapping to the commonly deleted region of the 5q- syndrome, have been recently described in patients with del(5q) myelodysplastic syndromes (MDS). Haploinsufficiency of Csnk1a1 in mice has been shown to result in β-catenin activation and expansion of haematopoietic stem
- PMID 26085061
Japanese Journal
- Diamond Blackfan貧血および5q-症候群におけるリボソーム蛋白質の異常 (特集 細胞内小器官と血液疾患)
- 5q-症候群の分子病態解析研究の進歩 (特集 骨髄異形成症候群(MDS)の病態解析と治療の進歩)
- 5q-症候群の臨床像と治療 (特集 骨髄異形成症候群(MDS) : 最近の進歩) -- (治療)
Related Links
- The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid ...
- In 2001 the World Health Organization (WHO) published a new classification for hematopoietic and lymphoid neoplasms that recognized the MDS with isolated del(5q) – the 5q- syndrome – as a unique, narrowly defined ...
Related Pictures
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