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Acute myeloid leukemia, M6 type(AML-M6)

MedGen UID:
7316
Concept ID:
C0023440
Neoplastic Process
Synonyms: Acute erythroleukemia; Acute erythroleukemia - M6a subtype; Acute erythroleukemia - M6b subtype; Acute myeloid leukemia FAB-M6; AML-M6; DI GUGLIELMO DISEASE, FAMILIAL; Di Guglielmo's syndrome; ERYTHROLEUKEMIA; ERYTHROLEUKEMIA, FAMILIAL; LEUKEMIA, ACUTE MYELOGENOUS, M6
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: [M]Erythroleukemia (14317002); M6B (14317002); Di Guglielmo disease [obs] (14317002); Acute erythroid leukemia (14317002); Acute erythremic myelosis [obs] (14317002); Acute erythremia [obs] (14317002); AML M6 (14317002); Acute myeloid leukemia, M6 type (14317002); Di Guglielmo's disease (93451002); Erythroleukemia, FAB M6 (93451002); Erythroleukemia (14317002); FAB M6 (14317002); Erythremic myelosis (14317002); Erythremic myelosis (93451002); M6 - Acute erythroleukemia (93451002); Erythroleukemia (93451002)
 
OMIM®: 133180

Definition

Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., 2002). Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; 601626). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004). [from OMIM]

Clinical features

Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; childen with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Refractory anemia with ringed sideroblasts (clinical)
MedGen UID:
220394
Concept ID:
C1264195
Neoplastic Process
A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001)
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; childen with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Refractory anemia with ringed sideroblasts (clinical)
MedGen UID:
220394
Concept ID:
C1264195
Neoplastic Process
A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001)
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; childen with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.

Recent clinical studies

Etiology

Hou HA, Chou WC, Kuo YY, Liu CY, Lin LI, Tseng MH, Chiang YC, Liu MC, Liu CW, Tang JL, Yao M, Li CC, Huang SY, Ko BS, Hsu SC, Chen CY, Lin CT, Wu SJ, Tsay W, Chen YC, Tien HF
Blood Cancer J 2015 Jul 31;5:e331. doi: 10.1038/bcj.2015.59. PMID: 26230955Free PMC Article
Hou HA, Lin YC, Kuo YY, Chou WC, Lin CC, Liu CY, Chen CY, Lin LI, Tseng MH, Huang CF, Chiang YC, Liu MC, Liu CW, Tang JL, Yao M, Huang SY, Ko BS, Hsu SC, Wu SJ, Tsay W, Chen YC, Tien HF
Ann Hematol 2015 Feb;94(2):211-21. Epub 2014 Sep 21 doi: 10.1007/s00277-014-2208-8. [Epub ahead of print] PMID: 25241285
Ibrahem L, Mahfouz R, Elhelw L, Abdsalam EM, Soliman R
Blood Cells Mol Dis 2015 Jan;54(1):84-9. Epub 2014 Aug 27 doi: 10.1016/j.bcmd.2014.07.015. [Epub ahead of print] PMID: 25172541
Busfield SJ, Biondo M, Wong M, Ramshaw HS, Lee EM, Ghosh S, Braley H, Panousis C, Roberts AW, He SZ, Thomas D, Fabri L, Vairo G, Lock RB, Lopez AF, Nash AD
Leukemia 2014 Nov;28(11):2213-21. Epub 2014 Apr 7 doi: 10.1038/leu.2014.128. [Epub ahead of print] PMID: 24705479
Olopade OI, Thangavelu M, Larson RA, Mick R, Kowal-Vern A, Schumacher HR, Le Beau MM, Vardiman JW, Rowley JD
Blood 1992 Dec 1;80(11):2873-82. PMID: 1450412

Diagnosis

Wang SA, Hasserjian RP
Am J Clin Pathol 2015 Jul;144(1):44-60. doi: 10.1309/AJCPRKYAT6EZQHC7. PMID: 26071461
Moharram L, Kamal N, Al Sukhun S, Sughayer MA
Hematol Oncol Stem Cell Ther 2014 Mar;7(1):50-2. Epub 2013 Nov 14 doi: 10.1016/j.hemonc.2013.09.004. [Epub ahead of print] PMID: 24239851
Manola KN, Panitsas F, Polychronopoulou S, Daraki A, Karakosta M, Stavropoulou C, Avgerinou G, Hatzipantelis E, Pantelias G, Sambani C, Pagoni M
Cancer Genet 2013 Mar;206(3):63-72. Epub 2013 Feb 12 doi: 10.1016/j.cancergen.2013.01.001. [Epub ahead of print] PMID: 23411131
Olopade OI, Thangavelu M, Larson RA, Mick R, Kowal-Vern A, Schumacher HR, Le Beau MM, Vardiman JW, Rowley JD
Blood 1992 Dec 1;80(11):2873-82. PMID: 1450412
Reiffers J, Bernard P, Larrue J, Dachary D, David B, Boisseau M, Broustet A
Leuk Res 1985;9(3):413-20. PMID: 3858611

Therapy

Ibrahem L, Mahfouz R, Elhelw L, Abdsalam EM, Soliman R
Blood Cells Mol Dis 2015 Jan;54(1):84-9. Epub 2014 Aug 27 doi: 10.1016/j.bcmd.2014.07.015. [Epub ahead of print] PMID: 25172541
Moharram L, Kamal N, Al Sukhun S, Sughayer MA
Hematol Oncol Stem Cell Ther 2014 Mar;7(1):50-2. Epub 2013 Nov 14 doi: 10.1016/j.hemonc.2013.09.004. [Epub ahead of print] PMID: 24239851
Trikalinos NA, Chen Q, Ning Y, Sausville EA, Baer MR
Cancer Genet 2013 Jun;206(6):252-5. Epub 2013 Jul 18 doi: 10.1016/j.cancergen.2013.06.003. [Epub ahead of print] PMID: 23871646
Manola KN, Panitsas F, Polychronopoulou S, Daraki A, Karakosta M, Stavropoulou C, Avgerinou G, Hatzipantelis E, Pantelias G, Sambani C, Pagoni M
Cancer Genet 2013 Mar;206(3):63-72. Epub 2013 Feb 12 doi: 10.1016/j.cancergen.2013.01.001. [Epub ahead of print] PMID: 23411131
Mantovani G, Del Giacco GS, Marongiu F, Tognella S, Carassi UE
Acta Haematol 1982;67(4):287-8. PMID: 6810628

Prognosis

Hou HA, Chou WC, Kuo YY, Liu CY, Lin LI, Tseng MH, Chiang YC, Liu MC, Liu CW, Tang JL, Yao M, Li CC, Huang SY, Ko BS, Hsu SC, Chen CY, Lin CT, Wu SJ, Tsay W, Chen YC, Tien HF
Blood Cancer J 2015 Jul 31;5:e331. doi: 10.1038/bcj.2015.59. PMID: 26230955Free PMC Article
Hou HA, Lin YC, Kuo YY, Chou WC, Lin CC, Liu CY, Chen CY, Lin LI, Tseng MH, Huang CF, Chiang YC, Liu MC, Liu CW, Tang JL, Yao M, Huang SY, Ko BS, Hsu SC, Wu SJ, Tsay W, Chen YC, Tien HF
Ann Hematol 2015 Feb;94(2):211-21. Epub 2014 Sep 21 doi: 10.1007/s00277-014-2208-8. [Epub ahead of print] PMID: 25241285
Ibrahem L, Mahfouz R, Elhelw L, Abdsalam EM, Soliman R
Blood Cells Mol Dis 2015 Jan;54(1):84-9. Epub 2014 Aug 27 doi: 10.1016/j.bcmd.2014.07.015. [Epub ahead of print] PMID: 25172541
Zhong L, Jia YQ, Meng WT, Ni X
Arch Pathol Lab Med 2012 Jan;136(1):84-9. doi: 10.5858/arpa.2010-0700-OA. PMID: 22208491
Olopade OI, Thangavelu M, Larson RA, Mick R, Kowal-Vern A, Schumacher HR, Le Beau MM, Vardiman JW, Rowley JD
Blood 1992 Dec 1;80(11):2873-82. PMID: 1450412

Clinical prediction guides

Hou HA, Chou WC, Kuo YY, Liu CY, Lin LI, Tseng MH, Chiang YC, Liu MC, Liu CW, Tang JL, Yao M, Li CC, Huang SY, Ko BS, Hsu SC, Chen CY, Lin CT, Wu SJ, Tsay W, Chen YC, Tien HF
Blood Cancer J 2015 Jul 31;5:e331. doi: 10.1038/bcj.2015.59. PMID: 26230955Free PMC Article
Ibrahem L, Mahfouz R, Elhelw L, Abdsalam EM, Soliman R
Blood Cells Mol Dis 2015 Jan;54(1):84-9. Epub 2014 Aug 27 doi: 10.1016/j.bcmd.2014.07.015. [Epub ahead of print] PMID: 25172541
El Rassi F, Ward KC, Flowers CR, Heffner LT, Waller EK, Winton EF, Vaughn J, Hill BG, Langston A, Nooka A, Arellano M, Khoury HJ
South Med J 2014 Aug;107(8):497-500. doi: 10.14423/SMJ.0000000000000146. PMID: 25084186
Obara N, Shinagawa A, Komatsu T, Abe T, Ninomiya H
Cancer Genet Cytogenet 1999 Nov;115(1):62-4. PMID: 10565302
Olopade OI, Thangavelu M, Larson RA, Mick R, Kowal-Vern A, Schumacher HR, Le Beau MM, Vardiman JW, Rowley JD
Blood 1992 Dec 1;80(11):2873-82. PMID: 1450412

Recent systematic reviews

Cunningham SC, Fakhry K, Bass BL, Napolitano LM
Dig Dis Sci 2005 Feb;50(2):215-20. PMID: 15745075
Bain BJ, Thomas A, Clough V, Ali S, Andrews V, Layton M, Wong C, Tawil A, Hiwaizi F
Clin Lab Haematol 2004 Oct;26(5):309-14. doi: 10.1111/j.1365-2257.2004.00625.x. PMID: 15485458
Bauduer F, Ducout L, Dastugue N, Capdupuy C, Renoux M
Leuk Lymphoma 1999 Oct;35(3-4):289-96. doi: 10.3109/10428199909145732. PMID: 10706452

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