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886            Part VI:  The Erythrocyte                                                                                                                             Chapter 57:  Primary and Secondary Erythrocytoses             887




                 74.  Simonson TS, Yang Y, Huff CD, et al: Genetic evidence for high-altitude adaptation in     109. Friedrich CA: Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer 86(11
                  Tibet. Science 329(5987):72, 2010.                     Suppl):2478, 1999.
                 75.  Yi X, Liang Y, Huerta-Sanchez E, et al: Sequencing of 50 human exomes reveals adapta-    110. Haase VH, Glickman JN, Socolovsky M, et al: Vascular tumors in livers with targeted
                  tion to high altitude. Science 329(5987):75, 2010.     inactivation of the von Hippel-Lindau tumor suppressor. Proc Natl Acad Sci U S A
                 76.  Beall CM, Cavalleri GL, Deng L, et al: Natural selection on EPAS1 (HIF2alpha) associ-  98(4):1583, 2001.
                  ated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U     111. Krieg M, Marti HH, Plate KH: Coexpression of erythropoietin and vascular endothe-
                  S A 107(25):11459, 2010.                               lial growth factor in nervous system tumors associated with von Hippel-Lindau tumor
                 77.  Huerta-Sanchez E, Jin X, Asan, et al: Altitude adaptation in Tibetans caused by intro-  suppressor gene loss of function. Blood 92(9):3388, 1998.
                  gression of Denisovan-like DNA: Nature 512(7513):194, 2014.    112. Richards FM: Molecular pathology of von Hippel Lindau disease and the VHL tumour
                 78.  Krause J, Fu Q, Good JM, et al: The complete mitochondrial DNA genome of an   suppressor gene. Expert Rev Mol Med 2001:1, 2001.
                  unknown hominin from southern Siberia. Nature 464(7290):894, 2010.    113. Couvé S, Ladroue C, Laine C, et al: Genetic evidence of a precisely tuned dysregu-
                 79.  Abi-Rached L, Jobin MJ, Kulkarni S, et al: The shaping of modern human immune   lation in the hypoxia signaling pathway during oncogenesis. Cancer Res 74(22):6554,
                  systems by multiregional admixture with archaic humans. Science 334(6052):89, 2011.  2014.
                 80.  Lorenzo FR, Rili G, Simonson T, et al: A novel PHD2 mutation associated with Tibetan     114. Percy MJ, Zhao Q, Flores A, et al: A family with erythrocytosis establishes a role for
                  genetic adaptation to high altitude hypoxia. ASH 52nd Annual Meeting, Orlando, FL,   prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci U S A
                  2010.                                                  103(3):654, 2006.
                 81.  Lorenzo FR, Huff C, Myllymaki M, et al: A genetic mechanism for Tibetan high-     115. Bento C, Percy MJ, Gardie B, et al: Genetic basis of congenital erythrocytosis: Mutation
                  altitude adaptation. Nat Genet 46(9):951, 2014.        update and online databases. Hum Mutat 35(1):15, 2014.
                 82.  Jefferson JA, Escudero E, Hurtado ME, et al: Excessive erythrocytosis, chronic moun-    116. Lorenzo FR, Yang C, Ng Tang Fui M, et al: A novel EPAS1/HIF2A germline mutation in
                  tain sickness, and serum cobalt levels. Lancet 359(9304):407, 2002.  a congenital polycythemia with paraganglioma. J Mol Med (Berl) 91(4):507, 2013.
                 83.  Goldwasser E, Jacobson LO, Fried W, et al: Mechanism of the erythropoietic effect of     117. Russell RC, Sufan RI, Zhou B, et al: Loss of JAK2 regulation via a heterodimeric VHL-
                  cobalt. Science 125(3257):1085, 1957.                  SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. Nat Med 17(7):845, 2011.
                 84.  Bernardi L, Roach RC, Keyl C, et al: Ventilation, autonomic function, sleep and ery-    118. Kaufmann KB, Grunder A, Hadlich T, et al: A novel murine model of myeloprolifera-
                  thropoietin. Chronic mountain sickness of Andean natives. Adv Exp Med Biol 543:161,   tive disorders generated by overexpression of the transcription factor NF-E2. J Exp Med
                  2003.                                                  209(1):35, 2012.
                 85.  Murray JF: Classification of polycythemic disorders. With comments on the diagnostic     119. Maran J, Jedlickova K, Stockton D, Prchal JT: Finding the novel molecular defect in a
                  value of arterial blood oxygen analysis. Ann Intern Med 64:892, 1966.  family with high erythropoietin autosomal dominant polycythemia. Blood 102:162b,
                 86.  Kuhl W: History of clinical research on the sleep apnea syndrome. The early days of   2003.
                  polysomnography. Respiration 64 Suppl 1:5, 1997.      120. Hammond D, Winnick S: Paraneoplastic erythrocytosis and ectopic erythropoietins.
                 87.  Block AJ, Boysen PG, Wynne JW, et al: Sleep apnea, hypopnea and oxygen desaturation   Ann N Y Acad Sci 230:219, 1974.
                  in normal subjects. A strong male predominance. N Engl J Med 300(10):513, 1979.    121. Navarro J, Aguilera A, Liano F, et al: Phlebotomy for polycythemia associated with
                 88.  Moore-Gillon JC, Treacher DF, Gaminara EJ, et al: Intermittent hypoxia in patients with   acquired cystic renal disease in a patient on hemodialysis. Nephron 62(1):110, 1992.
                  unexplained polycythaemia. Br Med J (Clin Res Ed) 293(6547):588, 1986.    122. Da Silva JL, Lacombe C, Bruneval P, et al: Tumor cells are the site of erythropoietin
                 89.  Smith JR, Landaw SA: Smokers’ polycythemia. N Engl J Med 298(1):6, 1978.  synthesis in human renal cancers associated with polycythemia. Blood 75(3):577, 1990.
                 90.  Stonesifer LD: How carbon monoxide reduces plasma volume. N Engl J Med 299(6):311,     123. Lal A, Rice A, al Mahr M, et al: Wilms tumor associated with polycythemia: Case report
                  1978.                                                  and review of the literature. J Pediatr Hematol Oncol 19(3):263, 1997.
                 91.  Cartier P, Labie D, Leroux JP, et al: [Familial diphosphoglycerate mutase deficiency:     124. Grignon DJ, Eble JN: Papillary and metanephric adenomas of the kidney. Semin Diagn
                  Hematological and biochemical study] [in French]. Nouv Rev Fr Hematol 12(3):269,   Pathol 15(1):41, 1998.
                  1972.                                                 125. Fisher JW, Samuels AI: Relationship between renal blood flow and erythropoietin pro-
                 92.  Lichtman MA, Murphy MS and Adamson JW: Detection of mutant hemoglobins with   duction in dogs. Proc Soc Exp Biol Med 125(2):482, 1967.
                  altered affinity for oxygen. A simplified technique. Ann Intern Med 84(5):517, 1976.    126. Beebe HG, Chesebro K, Merchant F, et al: Results of renal artery balloon angioplasty
                 93.  Agarwal N, Mojica-Henshaw MP, Simmons ED, et al: Familial polycythemia caused by   limit its indications. J Vasc Surg 8(3):300, 1988.
                  a novel mutation in the beta globin gene: Essential role of P50 in evaluation of familial     127. Mrug M, Julian BA, Prchal JT: Angiotensin II receptor type 1 expression in erythroid
                  polycythemia. Int J Med Sci 4(4):232, 2007.            progenitors: Implications for the pathogenesis of postrenal transplant erythrocytosis.
                 94.  Xia M, Huang T, Sun Y, et al: Identification of chemical compounds that induce HIF-1   Semin Nephrol 24(2):120, 2004.
                  alpha activity. Toxicol Sci 112(1):153, 2009.         128. Danovitch GM, Jamgotchian NJ, Eggena PH, et al: Angiotensin-converting enzyme
                 95.  Sergeyeva A, Gordeuk VR, Tokarev YN, et al: Congenital polycythemia in Chuvashia.   inhibition in the treatment of renal transplant erythrocytosis. Clinical experience and
                  Blood 89(6):2148, 1997.                                observation of mechanism. Transplantation 60(2):132, 1995.
                 96.  Tomasic NL, Piterkova L, Huff C, et al: The phenotype of polycythemia due to Croatian     129. Mrug M, Stopka T, Julian BA, et al: Angiotensin II stimulates proliferation of normal
                  homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash poly-  early erythroid progenitors. J Clin Invest 100(9):2310, 1997.
                  cythemia (VHL 598C>T:R200W). Haematologica 98(4):560, 2013.    130. Glicklich D, Burris L, Urban A, et al: Angiotensin-converting enzyme inhibition
                 97.  Lanikova L, Lorenzo F, Yang C, et al: Novel homozygous VHL mutation in exon 2 is   induces apoptosis in erythroid precursors and affects insulin-like growth factor-1 in
                  associated with congenital polycythemia but not with cancer. Blood 121(19):3918, 2013.  posttransplantation erythrocytosis. J Am Soc Nephrol 12(9):1958, 2001.
                 98.  Lorenzo FR, Yang C, Lanikova L, et al: Novel compound VHL heterozygosity (VHL     131. Gossmann J, Burkhardt R, Harder S, et al: Angiotensin II infusion increases plasma
                  T124A/L188V) associated with congenital polycythaemia. Br J Haematol 162(6):851,   erythropoietin levels via an angiotensin II type 1 receptor-dependent pathway. Kidney
                  2013.                                                  Int 60(1):83, 2001.
                 99.  Gordeuk VR, Sergueeva AI, Miasnikova GY, et al: Congenital disorder of oxygen sens-    132. Thevenod F, Radtke HW, Grutzmacher P, et al: Deficient feedback regulation of ery-
                  ing: Association of the homozygous Chuvash polycythemia VHL mutation with throm-  thropoiesis in kidney transplant patients with polycythemia.  Kidney  Int 24(2):227,
                  bosis and vascular abnormalities but not tumors. Blood 103:3924, 2004.  1983.
                 100. Percy MJ, McMullin MF, Jowitt SN, et al: Chuvash-type congenital polycythemia in 4     133. Friman S, Nyberg G, Blohme I: Erythrocytosis after renal transplantation; treatment by
                  families of Asian and Western European ancestry. Blood 102(3):1097, 2003.  removal of the native kidneys. Nephrol Dial Transplant 5(11):969, 1990.
                 101. Bento MC, Chang KT, Guan Y, et al: Congenital polycythemia with homozygous and     134. Cole J, Ertoy D, Lin H, et al: Lack of angiotensin II-facilitated erythropoiesis causes
                  heterozygous mutations of von Hippel-Lindau gene: Five new Caucasian patients.    anemia in angiotensin-converting enzyme-deficient mice. J Clin Invest 106(11):1391,
                  Haematologica 90(1):128, 2005.                         2000.
                 102. Cario H, Schwarz K, Jorch N, et al: Mutations in the von Hippel-Lindau (VHL) tumor     135. Venencie PY, Puissant A, Boffa GA, et al: Multiple cutaneous leiomyomata and erythro-
                  suppressor gene and VHL-haplotype analysis in patients with presumable congenital   cytosis with demonstration of erythropoietic activity in the cutaneous leiomyomata. Br
                  erythrocytosis. Haematologica 90(1):19, 2005.          J Dermatol 107(4):483, 1982.
                 103. Collins TS, Arcasoy MO: Iron overload due to X-linked sideroblastic anemia in an       136. Trimble M, Caro J, Talalla A, et al: Secondary erythrocytosis due to a cerebellar heman-
                  African American man. Am J Med 116(7):501, 2004.       gioblastoma: Demonstration of erythropoietin mRNA in the tumor. Blood 78(3):599,
                 104. Pastore Y, Jedlickova K, Guan Y, et al: Mutations of von Hippel-Lindau tumor-suppressor    1991.
                  gene and congenital polycythemia. Am J Hum Genet 73(2):412, 2003.    137. McFadzean AJS, Todd D, Tsang, KC: Polycythemia in primary carcinoma of the liver.
                 105. Pastore YD, Jelinek J, Ang S, et al: Mutations in the VHL gene in sporadic apparently   Blood 13:427, 1958.
                  congenital polycythemia. Blood 101(4):1591, 2003.     138. Davidson CS: Hepatocellular carcinoma and erythrocytosis. Semin Hematol 13(2):115,
                 106. Semenza GL: HIF-1 and mechanisms of hypoxia sensing. Curr Opin Cell Biol 13(2):167,   1976.
                  2001.                                                 139. Muta H, Funakoshi A, Baba T, et al: Gene expression of erythropoietin in hepatocellular
                 107. Miasnikova GY, Sergueeva AI, Nouraie M, et al: The heterozygote advantage of the   carcinoma. Intern Med 33(7):427, 1994.
                  Chuvash polycythemia VHLR200W mutation may be protection against anemia. Hae-    140. Shulkin BL, Shapiro B, Sisson JC: Pheochromocytoma, polycythemia, and venous
                  matologica 96(9):1371, 2011.                           thrombosis. Am J Med 83(4):773, 1987.
                 108. Cramer T, Yamanishi Y, Clausen BE, et al: HIF-1alpha is essential for myeloid cell-    141. Zhuang Z, Yang C, Lorenzo F, et al: Somatic HIF2A gain-of-function mutations in para-
                  mediated inflammation. Cell 112(5):645, 2003.          ganglioma with polycythemia. N Engl J Med 367(10):922, 2012.







          Kaushansky_chapter 57_p0871-0888.indd   886                                                                   9/18/15   9:37 AM
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