Page 16 - 2019_10 resto del Mondo_web

Editorials
assessment is likely to be added to the routine work up References
panel in the near future.4 Reflecting these guidelines, Rogers et al. describe that while chromosomal fragility assessment was performed in most children, telomere length assessment was only performed at diagnosis in one-third of them.
Registries are crucial tools in efforts to improve out- comes for patients with rare diseases and their families. They serve as a means of pooling rare data in a standard- ized format in order to achieve meaningful sample sizes for subsequent analysis and allow comparison to histori- cal or international cohorts, facilitate collaboration, gener- ate hypotheses for future testing, and provide a frame- work for annotated sample collection and translational research. Further, participation in registry reporting con- tributes to achieving consistent and complete work up of new cases and provides a means of formulation and dis- tribution of educational opportunities including multidis- ciplinary discussions which are so often needed in the management of rare conditions. Registries allow for the identification of patients, informing epidemiology assess- ments and areas of need, and may assist with allocation of scarce resources. Registries may facilitate feasibility assessments of and planning for clinical trials. The impor- tance of registries focused on AA in particular is reflected in the increasing number of publications describing national outcome data in AA.2,12-14 In this edition of Haematologica, Rogers et al. have made an important con- tribution to this data pool, informing optimal diagnostic and therapeutic approaches and, equally importantly, highlighting opportunities for further research and discus- sion in pediatric AA.
Funding
LF is supported by a Higher Degree Fellowship in Bone Marrow Failure from Maddie Riewoldt’s Vision.
Mastering the multitude of monocytoses
Ulrich Germing and Norbert Gattermann
1. Rogers ZR, Nakano TA, Olson TS, et al. Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. Haematologica. 2019;104(10):1974-1983.
2. Williams DA, Bennett C, Bertuch A, et al. Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014;61(5):869-874.
3. Camitta BM, Thomas ED, Nathan DG, et al. Severe aplastic anemia: a prospective study of the effect of early marrow transplantation on acute mortality. Blood. 1976;48(1):63-70.
4. Killick SB, Bown N, Cavenagh J, et al. Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol. 2016;172(2):187-207.
5. Dufour C, Pillon M, Passweg J, et al. Outcome of aplastic anemia in adolescence: a survey of the Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation. Haematologica. 2014;99(10):1574-1581.
6. YoshidaN,KobayashiR,YabeH,etal.First-linetreatmentforsevere aplastic anemia in children: bone marrow transplantation from a matched family donor versus immunosuppressive therapy. Haematologica. 2014;99(12):1784-1791.
7. Bacigalupo A. How I treat acquired aplastic anemia. Blood. 2017;129(11):1428-1436.
8. TownsleyDM,ScheinbergP,WinklerT,etal.EltrombopagAddedto Standard Immunosuppression for Aplastic Anemia. N Engl J Med. 2017;376(16):1540-1550.
9. Yoshizato T, Dumitriu B, Hosokawa K, et al. Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. N Engl J Med. 2015;373(1):35-47.
10. Lai TP, Wright WE, Shay JW. Comparison of telomere length meas- urement methods. Philos Trans R Soc Lond B Biol Sci. 2018;373(1741).
11. Ghemlas I, Li H, Zlateska B, et al. Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. J Med Genet. 2015;52(9):575-584.
12. ContejeanA,Resche-RigonM,TamburiniJ,etal.Aplasticanemiain the elderly: a nationwide survey on behalf of the French Reference Center for Aplastic Anemia. Haematologica. 2019;104(2):256-262.
13. Vaht K, Goransson M, Carlson K, et al. Incidence and outcome of acquired aplastic anemia: real-world data from patients diagnosed in Sweden from 2000-2011. Haematologica. 2017;102(10):1683-1690.
14. Zhu XF, He HL, Wang SQ, et al. Current Treatment Patterns of Aplastic Anemia in China: A Prospective Cohort Registry Study. Acta Haematol. 2019:1-9.
1912
Department of Hematology, Oncology and Clinical Immunology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany E-mail: ULRICH GERMING - germing@med.uni-duesseldorf.de
doi:10.3324/haematol.2019.227546
In this issue of the journal, Valent and coworkers report on diagnostic criteria for chronic myelomonocytic leukemia (CMML), CMML variants, and pre-CMML conditions.1 These CMML disorders have always been like orphans, trying to find their place in a suitable environment. They are rare entities but share chromosomal, molecular, morphological, hematologic, clinical, and prognostic fea- tures with other diseases in the large family of myeloid malignancies. The French-American-British group classified CMML as a myelodysplastic syndrome (MDS), based on its similarity to refractory anemia with excess blasts, although CMML “may have little in common with MDS showing trilineage dyspoiesis”2 and despite the fact that CMML fea- tures only minimal dysplasia in the erythroid lineage.
Pathologists and hematologists felt uncomfortable since there are more differences than similarities between CMML and MDS. World Health Organization classifica- tions placed CMML in a “hermaphrodite” position between myeloproliferative neoplasms (MPN) and MDS,3-5 taking into consideration that there are proliferative characteristics as well as hematopoietic insufficiency associated with some degree of myelodysplasia. Despite all these efforts, CMML was once described as “lost in classification”, as none of the classifications adequately reflects the marked heterogeneity of this group of myeloid neoplasms.6
A major problem with all myeloid neoplasias presenting without significant excess of blasts, in particular the cases presenting with monocytosis, is demarcation from reactive
haematologica | 2019; 104(10)