Table 5 .

Myeloid Neoplasia Highlighting Key Clinical, Family History, and Morphologic Findings Associated With the Most Common Genetic Mutations in This Study

Case No.	Diagnosis	Clinical History	Family History	Morphologic Findings
230	AML with biallelic mutations of CEBPA (one germline, one somatic)	Two-month history of increasing dyspnea on exertion, associated with a cough, fever, easy bruising, and weight loss	Daughter and younger brother with AML	Medium to large-sized blasts with irregular nuclear contour, fine chromatin, and prominent nucleoli
283	AML with biallelic mutations of CEBPA (1 germline, 1 somatic)	One-month history of bruising, chest pain, night sweats	None	Blasts with mostly round nuclei, occasionally indented nuclear contours, fine chromatin, large prominent nucleoli, and moderate amounts of cytoplasm containing occasional granules and Auer rods
38	AML with mutated RUNX1 (germline)	Easy bruising, with platelets in the low to normal range, but no significant excessive bleeding; presented with high fevers, hypotension, diffuse lymphadenopathy, and splenomegaly	Family history of platelet function defect; affected family members include her 2 older sisters, father, paternal aunt, paternal uncle, cousins, and paternal great-grandfather	Medium to large-sized blasts with high nuclear-to-cytoplasmic ratios, irregular nuclear contours, smooth chromatin, prominent nucleoli, and mild amounts of basophilic cytoplasm with Auer rods
284	AML with mutated RUNX1 (possibly germline)	History of thrombocytopenia since the age of 4 y, treated with steroids for presumptive ITP, without significant response	None	Predominance of myeloid blasts and small, hypolobated megakaryocytes
39	MDS MLD with germline RUNX1 mutation	Thrombocytopenia (dating back to the newborn period) and neutropenia in the setting of chronic idiopathic elevation in creatine kinase and myopathy of unclear etiology	Unknown	Hypercellular marrow with trilineage dysplasia and prominent dysmegakaryopoiesis
339	MDS MLD with germline RUNX1 mutation	Progressive thrombocytopenia and anemia and a life-long history of bruising and mild thrombocytopenia	Father with long-standing history of easy bruising and asymptomatic 4-y-old sister with mild thrombocytopenia	Hypercellular marrow with trilineage dysplasia, decreased megakaryocytes with frequent small hypolobated forms and 5% blasts
20	AML MRC with germline GATA2 mutation	Fatigue and weight loss	Family history of both solid tumors and hematologic malignancies, including colon cancer in his father and 5 paternal uncles, breast cancer in 3 paternal aunts, and leukemia in his sister and a paternal aunt	Intermediate to large in size blasts with open chromatin, round to slightly irregular nuclear contours, occasional prominent nucleoli, and scant cytoplasm; no cytoplasmic granules or Auer rods were seen
48	AML MRC with germline GATA2 mutation	Pancytopenia	None	Numerous blasts with abundant dysplastic megakaryocytes
236	AML MRC with germline GATA2 mutation	Pancytopenia, lymphadenopathy, and splenomegaly	Unknown	Hypercellular bone marrow with increased and slightly dysplastic erythroids, moderate reticulin fibrosis, and rare hemophagocytic histiocytes
266	AML MRC with germline GATA2 mutation	Pancytopenia with macrocytosis	Unknown	Large blasts with round to irregular nuclear contours, variably prominent nucleoli, and large amounts of cytoplasm; a subset of the blasts had cytoplasmic granules
176	MDS-EB1 with germline GATA2 mutation	Hemihypertrophy developed right lower extremity lymphedema over several years now presented with high WBC count, anemia, and thrombocytosis.	None	Hypercellular marrow with increased megakaryocytes showing prominently separated nuclear lobes; erythroid elements exhibited megaloblastic features with irregularly shaped nuclei; myeloid cells exhibited left-shifted maturation with abnormal nuclear lobation
52	MDS EB-2 with germline GATA2 mutation	Pancytopenia and recent multiple infections including pneumonia, bladder and sinus infections, and cellulitis; medical history notable for occasional left lower extremity edema and human papillomavirus of the cervix	None	Hypocellular bone marrow with 16% blasts, rare dysplastic erythroid forms, and left-shifted myeloid elements with hypolobation and hypogranulation and absent megakaryocytes
105	MDS MLD with germline GATA2 mutation	Cytopenias	Brother with AML	Hypercellular bone marrow with trilineage dysplasia along with <15% ring sideroblasts and 2.6% marrow blasts without identifiable Auer rods
138	MDS MLD with germline GATA2 mutation	2-year history of anemia of unknown origin	None	Bone marrow aspirate showed trilineage dysplasia and <5% blasts
337	MDS MLD with germline GATA2 mutation	Sudden onset of fatigue at 21 and was found to be pancytopenic	Maternal family history is significant for MDS and warts; patient's sister has mild cytopenias	Hypocellular bone marrow with trilineage dysplasia and <5% blasts; granulomas seen at later time point
157	MDS MLD with germline GATA2 mutation	History of worsening cytopenias diagnosed at age 16, ultimately progressing to transfusion dependence and aplastic anemia	None	Hypercellular marrow with increased ratio of myeloid cells to erythroid cells, abnormal erythroid maturation including atypical forms; left-shifted and dysplastic myelopoiesis, rare hypolobated megakaryocytes; markedly increased iron stores with rare ringed sideroblasts
87	RCC with germline GATA2 mutation	Recurrent group A streptococcal lymphangitis/cellulitis, streptococcal bacteremias, lymphangiectasis in the right thigh region; HPV-driven warts, mainly involving the fingers and the toes; recurrent scrotal and penile lymphedema	None	Hypocellular bone marrow with relative erythroid predominance, left-shifted granulocytes with toxic appearance, no increase in blasts or hemophagocytosis, occasional abnormal megakaryocytes (small, monolobated and widely separated nuclei)
307	RCC with germline GATA2 mutation	3 days of fever, cough, and a diagnosis of pneumonia; CBC showed macrocytic anemia, leukopenia with neutropenia, monocytopenia, and rare circulating blasts	None	Hypocellular marrow with dysplasia
381	RCC with germline GATA2 mutation	May-Thurner syndrome and pancytopenia; initially felt to have megaloblastic anemia due to folate deficiency	None	Hypocellular marrow with megaloblastic changes and dyserythropoiesis
40	CMML-1 with germline GATA2 mutation	Motor vehicle accident resulting in postoperative course complications	None	Hypercellular marrow with dysplasia and monocytosis

AML, acute myeloid leukemia; HPV, human papillomavirus; ITP, immune thrombocytopenia; MDS, myelodysplastic syndrome; MLD, multilineage dysplasia; MRC, myelodysplasia related changes; RCC, refractory cytopenia of childhood.