HJBR Mar/Apr 2022

HEALTHCARE JOURNAL OF BATOON ROUGE I  MAR / APR 2022 51 Rachel Clark, MD Hematology Oncology OLOL Cancer Institute agents, such as cyclophosphamide, and is associated with a more complex cytogenetic profile. In a patient who received DNA topoi- somerase inhibitors, for example etoposide, MDS can develop within one to four years. In contrast to alkylating agents, DNA topoi- somerase inhibitors more commonly pres- ent with overt AML thanMDS. Although rare, inherited disorders, namely Fanconi anemia and trisomy 21, can contribute to the devel- opment of MDS over time. How does MDS present? As noted in the opening case, patients most commonly have isolated anemia, which dominates during the early disease course. Others may have bicytopenia or complete pancytopenia. It is uncommon to see isolated neutropenia or thrombocytope- nia as a presenting finding. Overwhelmingly, patients tend to be asymptomatic at presen- tation. However, some patients will present with fatigue, decreasing exercise tolerance, or pallor, depending on the degree of anemia. Important Diagnostic Studies The peripheral blood smear is significant for a plenitude of dysplastic findings in all three cell lines. Most commonly, ovalomac- rocytosis of the red blood cells is typically present. Neutrophils tend to have decreased granulation, appear larger than normal, and have abnormal nuclear lobation. Platelets are more likely to be normal compared to the other cell lines. However, giant platelets and a lack of granules can be observed. 2 Bone marrow biopsy is paramount to the diagnosis and prognostication of MDS. Hy- percellularity can be observed, however, in about 20% of cases, hypocellularity predom- inates. Some of the characteristic morpho- logic findings include hypogranular neu- trophilic precursors with hyposegmented nuclei, an increase in myeloblasts that ac- counts for less than 20% of marrow cellu- larity, ringed sideroblasts, erythroid hyper- plasia, and megakaryocytes with reduced and/or disorganized nuclei. Fibrosis can be seen in varying degrees in MDS. It is typi- cally associated with MDS that occurs as a late complication fromprior chemotherapy. 3 Assessment of cytogenetic and molecular features are performed to support the diagnosis. Fluorescence in situ hybridization is used to detect chromosomal abnormalities while next generation sequencing is used to detect mutations and gene rearrangements. Analyzed together, peripheral smear, bone marrow examination and cytogenetic analy- sis aid in the diagnosis of MDS. Adiagnosis is confirmed when a patient has at least one cytopenia, greater than 10% of nucleated cells of one line with dysplastic features, less than 20% blast in the blood or bone marrow, and characteristic cytogenic findings. MDS is defined based on observed clinical find- ings and subsequently classified based on the WHO Classification System. 4 Now We Have a Diagnosis, What’s Next? Given that MDS is a heterogeneous dis- ease, treatment planning should be devel- oped on an individual basis. Several factors are considered when determining a treat- ment plan, including clinical symptoms, risk category determination, and medical fitness. Severity of clinical symptoms can assist in determining which supportive care inter- vention each patient requires. A patient’s risk category is determined by using the Revised International Prognostic Scoring System (IPSS-R) tool. This tool stratifies pa- tients into low-risk or high-risk categories. 5 Arguably, the most important factor to con- sider is medical fitness, which examines the patient’s functional status, ability to toler- ate proposed treatment plan, and severity of other comorbidities. Age should not be automatically exclusive in medical fitness determination. Based on the practitioner’s assessment of the above factors, a goals of care discussion should commence encour- aging shared decision-making regarding treatment planning. Options for treatment include symptomatic transfusions, growth factor support, hypomethylating agents, and allogenic hematopoietic stem cell transplan- tation. n REFERENCES 1 Pang WW, et al. “Hematopoietic stem cell and progenitor cell mechanisms in myelodysplas- tic syndromes.” Proc Natl Acad Sci U S A. 2013 Feb. 19;110(8):3011-6. doi: 10.1073/pnas.1222861110. Epub Feb. 6, 2013. PMID: 23388639; PMCID: PMC3581956. 2 Hasserjian RP. “Myelodysplastic Syndrome Updated. Pathobiology.” 2019;86(1):7-13. doi: 10.1159/000489702. Epub Jul. 24, 2018. PMID: 30041243. 3 Shenolikar R, et al. “Incidence of secondary MDS and AML in patients with ovarian or breast can- cer in a real-world setting in the United States.” Gynecol Oncol. 2018 Nov;151(2):190-195. doi: 10.1016/j.ygyno.2018.09.003. Epub Sep. 27, 2018. PMID: 30268525. 4 Haferlach T. “The Molecular Pathology of Myelodysplastic Syndrome.” Pathobiology. 2019;86(1):24-29. doi: 10.1159/000488712. Epub May 23, 2018. PMID: 29791902. 5 Greenberg P, Cox C, LeBeau MM, et al. “Inter- national scoring system for evaluating progno- sis in myelodysplastic syndromes.” Blood 1997; 89:2079. Erratum in Blood 1998; 91:1100. Rachel Clark, MD, hails from the close-knit com- munity of Vacherie, Louisiana. At the tender age of three years,Clark experienced a life-threatening neck fracture. Her prognosis was grim, however through prayer and the advancements of medical science,she made a full recovery.Due to this early exposure to the medical field, her interest in medicine was sparked, and her goal was set on becoming a physician.Clark earned a bachelor’s degree in biology/pre-medicine fromXavier University of Louisiana.She then traveled toAtlanta,Georgia,to pursue amedical degree from Morehouse School of Medicine. Upon completion, Clarkmoved back to Louisiana to complete residency training in the combined Internal Medicine and Pedi- atrics Residency ProgramatTulane University School of Medicine. Continuing at Tulane, Clark completed anAdult Hematology/Medical Oncology Fellowship. Her special interest is in the development and growth of Comprehensive Sickle Cell Disease Centers and the improvement of care access and delivery to sickle cell disease patients,particularly in the underserved communities of Louisiana.