Page 1440 - Williams Hematology ( PDFDrive )

1414 Part X: Malignant Myeloid Diseases Chapter 88: Acute Myelogenous Leukemia 1415

chromosome 16 abnormalities in AML. Following completion of che- REFERENCES
motherapy (induction and consolidation), patients who had a CBF-β/
MYH11 fusion transcript copy number greater than 10 had a shorter 1. Friedreich N: Ein neuer Fall von Leukämie. Arch Pathol 12:37, 1857.
remission duration and higher risk for relapse than did patients with 2. Ebstein W: Ueber die acute Leukämie und Pseudoleukämie. Dtsch Arch Klin Med
44:343, 1889.
a copy number less than 10. 1295 Evidence indicates transcript ratios of 3. Fraenkel A: Ueber acute Leukämie. Dtsch Med Wochenschr 21:639, 1895.
samples may have utility in establishing thresholds for curability and for 4. Neumann E: Ueber myelogene leukäemie. Berl Klin Wochenschr 15:69, 1878.
relapse risk in standard clinical CR states in the future. 1296 5. Ehrlich P: Farbenanolytische Untersuchungen zur Histologie und Klinik des Blutes.
Hirschwald, Berlin, 1891.
6. Naegeli O: Ueber rothes Knochenmark und Myeloblasten. Dtsch Med Wochenschr
Detecting t(8;21) 26:287, 1900.
Translocation 8;21 is one of the most common translocations in AML, 7. Hirschfield H: Zur Kenntnis der Histogenese der granulirten Knochenmarkzellen.
Arch Pathol 153:335, 1898.
especially in younger patients (see Table 88–9). This translocation fuses 8. Hsu TC: Human and Mammalian Cytogenetics: An Historical Perspective. Springer-
the RUNX1 gene on chromosome 21p to RUNXIT1 (ETO) on chromo- Verlag, New York, 1979.
some 8p to produce the fusion gene. 1297,1298 The fusion has been detected 9. Subramanian G, Adams MD, Venter JC, Broder S: Implications of the human genome
for understanding human biology and medicine. JAMA 286:2296, 2001.
in the majority of patients in remission. One study found its persistence 10. Ellison RR, Holland JF, Weil M, et al: Arabinosyl cytosine: A useful agent in the treat-
in all patients with t(8;21) after chemotherapy or autologous marrow ment of acute leukemia in adults. Blood 33:507, 1968.
transplantation. 1299–1301 Quantitation of the amount of the fusion tran- 11. Yates JW, Wallace HJ, Ellison RR, Holland JF: Cytosine arabinoside and daunorubicin
script during remission may be more predictive of cure or relapse than a therapy in acute non-lymphocytic leukemia. Cancer Chemother Rep 52:485, 1973.
simple qualitative assessment. 1302,1303 Real-time quantitative RT-PCR can 12. Lichtman MA: A historical perspective on the development of the cytarabine (7 days)
and daunorubicin (3 days) treatment regimen for acute myelogenous leukemia: 2013
be used for this purpose. the 40th anniversary of 7+3. Blood Cells Mol Dis 50:119, 2013.
In general, CBF leukemias lend themselves to MRD monitoring 13. Thomas ED, Buckner CD, Banaji M, et al: One hundred patients with acute leukemia
by quantitative RT-PCR. In a trial from the Medical Research Coun- treated by chemotherapy, total body irradiation, and allogeneic bone marrow trans-
plantation. Blood 49:511, 1977.
cil, in 163 patients with t(8;21) and 115 with inv(16), quantitative PCR 14. Preston DL, Kusumi S, Tomonaga M, et al: Cancer incidence in atomic bomb survi-
transcripts at end of induction and end of consolidation course three vors. Part III. Leukemia, lymphoma and multiple myeloma, 1950–1987. Radiat Res
were informative for relapse. Rising MRD levels in blood also predicted 137(2 Suppl):S68, 1994.
relapse. 1304 Another study showed that a three-log reduction in MRD 15. Tsushima H, Iwanaga M, Miyazaki Y. Late effect of atomic bomb radiation on myeloid
disorders: Leukemia and myelodysplastic syndromes. Int J Hematol 95:232, 2012.
after one consolidation had prognostic value whereas expression of KIT 16. Rinsky RA, Smith AB, Hornung R, et al: Benzene and leukemia. An epidemiologic
and FLT3 mutations did not. 1305 risk assessment. N Engl J Med 316:1044, 1987.
17. Johnson GT, Harbison SC, McCluskey JD, Harbison RD: Characterization of cancer
risk from airborne benzene exposure. Regul Toxicol Pharmacol 55:361, 2009.
Detecting t(15;17) 18. Pyatt D: Benzene and hematopoietic malignancies. Clin Occup Environ Med 4:529, 2004.
Unlike AML with the fusion transcript t(8;21), in APL the t(15;17) 19. Lichtman MA: Cigarette smoking, cytogenetic abnormalities, and acute myelogenous
fusion transcript usually disappears after intensive therapy. 1306 At least leukemia. Leukemia 21:1137, 2007.
one in 100,000 cells with the PML-RAR-α transcript can be detected by 20. Rund D, Ben-Yehuda D: Therapy-related leukemia and myelodysplasia: Evolving con-
cepts of pathogenesis and treatment. Hematology 9:179, 2004.
RT-PCR. 1306 FISH also can be used. 1307 Molecular monitoring has shown 21. Larson RA, Le Beau MM: Therapy-related myeloid leukaemia: A model for leukemo-
treatment is capable of achieving a molecular remission (negative genesis in humans. Chem Biol Interact 153–154:187, 2005.
RT-PCR). 1308 Nested PCR can be used to determine the need for addi- 22. Yeasmin S, Nakayama K, Ishibashi M, et al: Therapy-related myelodysplasia and
acute myeloid leukemia following paclitaxel- and carboplatin-based chemotherapy in
tional treatment at the end of consolidation, to determine the advisabil- an ovarian cancer patient: A case report and literature review. Int J Gynecol Cancer
ity of autologous stem cell transplantation in second remission, and to 18:1371, 2008.
predict relapse after transplantation. 1309 Real-time quantitative RT-PCR 23. Visfeldt J, Anderson M: Pathoanatomical aspects of malignant haematological disor-
ders among Danish patients exposed to thorium dioxide. APMIS 103:29, 1995.
may improve the predictive value of MDR assessment and aid in labo- 24. Brownson RC, Novotny TE, Perry MC: Cigarette smoking and adult leukemia: A
ratory standardization. 1310 meta-analysis. Arch Intern Med 153:469, 1993.
25. Stewart SL, Cardinez CJ, Richardson LC, et al: Surveillance for cancers associated with
tobacco use—United States, 1999–2004. MMWR Surveill Summ 57:1, 2008.
Detecting NPM-1 and FLT3 Mutations 26. Rhomberg LR, Bailey LA, Goodman JE, et al: Is exposure to formaldehyde in air caus-
In AML patients who have normal cytogenetics, mutational status of ally associated with leukemia?—A hypothesis-based weight-of-evidence analysis. Crit
NPM1, FLT3, CEPBA, MLL, and RAS have implications for treatment Rev Toxicol 41:555, 2011.
outcomes and prognosis. 1311 Whether detection of these mutations as a 27. Checkoway H, Boffetta P, Mundt DJ, et al: Critical review and synthesis of the epi-
reflection of MRD will have implications for relapse and therapy remains demiologic evidence on formaldehyde exposure and risk of leukemia and other lym-
phohematopoietic malignancies. Cancer Causes Control 23:1747, 2012.
undetermined. Cumulative incidence of relapse is higher in those who 28. Lichtman MA: Obesity and the risk for a hematological malignancy: Leukemia, lym-
remain positive using real-time quantitative PCR consolidation. 1312 There phoma, or myeloma. Oncologist 15:1083, 2010.
is evidence in NPM1-mutated cases, relapse was accompanied by an 29. Swolin B, Rödjer S, Westin J: Therapy-related patterns of cytogenetic abnormalities
in acute myeloid leukemia and myelodysplastic syndrome post polycythemia vera:
increase of mutant gene copy numbers; it has been concluded that quan- Single center experience and review of literature. Ann Hematol 87:467, 2008.
titative PCR monitoring may have prognostic impact in such patients. 1313 29a. Xie M, Lu C, Wang J, et al: Age-related mutations associated with clonal hematopoi-
The technology to detect MRD has increased in sensitivity and etic expansion and malignancies. Nat Med 20:1472, 2014.
availability. Detection of MRD to determine a patient’s treatment or 30. Wiernik P: Leukemias and plasma cell myeloma. Cancer Chemother Biol Response
Modif 17:390, 1997.
prognosis remains an evolving area of investigation. The role that pro- 31. Luca DC, Almanaseer IY: Simultaneous presentation of multiple myeloma and acute
teomic 1314,1315 and microRNA profiles 1316–1319 will play in MRD detection monocytic leukemia. Arch Pathol Lab Med 127:1506, 2003.
is under study. 32. Pulik M, Genet P, Jary L, et al: Acute myeloid leukemias, multiple myelomas, and
chronic leukemias in the setting of HIV infection. AIDS Patient Care STDS 12:913, 1998.
33. Yohe SL, Chenault CB, Torlakovic EE, et al: Langerhans cell histiocytosis in acute
leukemias of ambiguous or myeloid lineage in adult patients: Support for a possible
clonal relationship. Mod Pathol 27:651, 2014.
34. Edelbroek JR, Vermeer MH, Jansen PM, et al: Langerhans cell histiocytosis first
Marshall A. Lichtman has been an expert witness on behalf of defen- presenting in the skin in adults: Frequent association with a second haematological
dants in toxic tort cases involving occupational exposure to chemicals, malignancy. Br J Dermatol Dermatology 167:1287, 2012.
including benzene. 35. Moskowitz C, Dutcher JP, Wiernik PH: Association of thyroid disease with acute leu-
kemia. Am J Hematol 39:102, 1992.

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