Blood Neoplasms

Question 1

Cause: Inappropriate JAK2 pathway activation

Presentation: Median age 60, pruritus after bath, erythromelalgia (red limb pain), splenomegaly, thrombosis, risk of developing Budd-Chiari syndrome

Diagnostics: Elevated Hgb or hematocrit, trilineage hyperproliferation on marrow, low EPO level, CBC may have other elevated cell lines besides Hgb

Treatment: ruxolitinib (Jak inhibitor), hydroxyurea

Answer 1

Polycythemia Vera

Question 2

Cause: JAK2, CALR, MPL pathway activation

Presentation: Median age 60 (20% are <40), erythromelalgia, splenomegaly, vasomotor symptoms (atypical chest pain, paresthesia, visual disturbances), risk of thrombosis or hemorrhage

Diagnostics: CBC > 1million platelets, increased megakaryocytes in marrow

Answer 2

Essential Thrombocythemia

Question 3

Cause: may be primary or post PV/ET, often with JAK2/CALR/MPL, excess cytokines stimulate myeloblasts, MKs, fibroblasts, and osteoblasts

Presentation: Fatigue, fevers, weight loss, pruritus, splenomegaly, leukoerythroblastosis, myelophthisic appearing, deposition of fibrin and collegen in marrow, osteosclerosis

Treatment: Allogenic stem cell transplant is curative, hydroxyurea, JAK inhibitors, INF may help splenomegaly

Answer 3

Myelofibrosis

Question 4

Cause: KIT mutation (receptor for macrophage GF)

Presentation: Urticaria pigmentosa, cutaneous or systemic ,possible anaphylaxis

Diagnostics: Skin or bone marrow biopsy if systemic

Answer 4

Mastocytosis

Question 5

Cause: FIP1L1-PDGFRAa rearrangement

Presentation: Organ damage (cardiac and pulmonary)

Diagnostics: Peripheral eosinophilia > 1500/ul

Answer 5

Hypereosinophilic Syndrome

Question 6

Cause: Chromosomal abberation resulting in abnormal transcription factors that affect development of B and T cells in the bone marrow, mainly in children

Presentation: Rapid onset, symptoms related to depressed marrow function, bone pain, CNS manifestations, anemia, thrombocytopenia, variable WBC’s, >30% lymphoblasts, bad prognosis if T(9;22) detected

Answer 6

Acute Lymphocytic Leukemia (ALL)

Question 7

Cause: Chromosomal deletion of possible somatic hypermutation of postgerminal or naive B cells in lymph nodes (most common leukemia in adults, 2x more common in men)

Presentation: Asymptomatic or nonspecific, LAD, hepatosplenomegaly, marrow failure, drenching night sweats, fatigue ,weight loss, sustained abs. lymphocytosis >5000/ul, SMUDGE CELLS, CD5+, CD23+, cyclin D1-

Risk of Richter’s Syndrome

Answer 7

Chronic Lymphocytic Leukemia (CLL)

Question 8

Cause: Oncogenic mutations impede differentiation, accumulating immature myeloid blasts in marrow (adults)

Presentation: Anemia symptoms, spontaneous bleeding, petechiae and ecchymoses, neutropenia, thrombocytopenia, >30% myeloblasts, AUER RODS

Answer 8

Acute Myelogenous Leukemia (AML)

Question 9

Cause: Tyrosine kinase pathway related chromosomal translocation (Philadelphia Chromosome), hypercellular pluripotent hematopoietic stem cells in marrow (ages 20-50)

Presentation: Insidious onset, mild anemic symptoms, splenomegaly, WBC > 200,000-1,000,000, increased eosinophils and basophils

Answer 9

Chronic Myelogenous Leukemia (CML)

Question 10

Cause: Overexpression of cyclin D due to T(11;14)

Presentation: Neoplasm in mantle zone of the follicle, CD5+, CD20 bright, CD23-, cyclin D+, FMC7+, very aggressive/patients typically present with late stage disease

Answer 10

Mantle Cell Lymphoma

Question 11

Cause: T(14;18)

Presentation: Neoplasm of germinal center, indolent, CD10+, CD20+

Answer 11

Follicular Lymphoma

Question 12

Cause: “Double hit” T(8;14) and T(14;18)

Presentation: Most common type of NHL, requires treatment (50% of treatment in curative), relapse = poor prognosis, CD10+, CD20+

Answer 12

Diffuse Large B-Cell Lymphoma

Question 13

Cause: T(8;14)

Presentation: Poor survival if not treated aggressively, curable, head and neck tumors, caused by EBV, can be endemic, sporadic, or immunodeficiency-associated

Answer 13

Burkitt’s Lymphoma

Question 14

Cause: Infectious agents and autoimmune disorders

Presentation: heterogenous group of disorders, lymphomas that develop in MALT, neoplasm in marginal zone of the follicle

Answer 14

Marginal Zone Lymphoma

Question 15

Serum monoclonal protein (M-protein) <3.0g/dl, bone marrow clonal plasma cells 10%, no end-organ damage, no evidence of a B-cell lymphoma

Answer 15

Monoclonal Gammopathy of Unknown Significance (MGUS)

Question 16

Serum M-protein at myeloma levels and/or > 10% clonal plasma cells in bone marrow, no myeloma-related organ or tissue impairment or symptoms

Answer 16

Asymptomatic (smoldering) Plasma Cell Myeloma

Question 17

Localized bone tumor consisting of monoclonal plasma cells, no other lesions on complete skeletal radiographs, no clinical features of plasma cell myeloma, no bone marrow plasmacytosis

Answer 17

Solitary Plasmacytoma of Bone/Osseous Plasmacytoma

Question 18

Calcium: >11.5g/dl
Renal: CrCl < 40ml/min
Anemia: Hgb < 10g/dL
Bone: Lytic or compression fracture, osteopenia

Answer 18

Plasma Cell Myeloma (PCM)

Question 19

Deposition of insoluble AL amyloid in cardiac tissues as a consequence of multiple myeloma

Answer 19

AL Amyloidosis

Question 20

Cause: Plasmacytoid proliferation in marrow, spleen and sometimes lymph nodes, overproduction of IgM

Presentation: Pallor/anemia, peripheral neuropathy, acquired bleeding disorders, CD20+, CD5-, CD10-, no CRAB findings, hyperviscosity syndrome

Answer 20

Waldenstrom’s Macroglobulinemia / Lymphoplasmacytic Lymphoma (LPL)