Skip to main content
Erschienen in: European Journal of Pediatrics 12/2014

01.12.2014 | Case Report

Transient leukemia in a newborn without Down syndrome: case report and review of the literature

verfasst von: Laurence Rozen, Sophie Huybrechts, Laurence Dedeken, Catherine Heijmans, Barbara Dessars, Pierre Heimann, Frédéric Lambert, Denis F. Noubouossie, Alina Ferster, Anne Demulder

Erschienen in: European Journal of Pediatrics | Ausgabe 12/2014

Einloggen, um Zugang zu erhalten

Abstract

Transient neonatal leukemia occurs almost exclusively in Down syndrome babies. We report here the unusual case of a newborn without Down syndrome who presented neonatal transient leukemia and who achieved spontaneously complete remission. Trisomy 21 and GATA1 mutation were both present in leukemic cells. While close follow-up is advised since true leukemia may develop later, the patient is still in remission for 2.5 years. We performed a literature review of 15 other similar cases. Conclusion: Our case of transient leukemia without Down syndrome and the literature review highlight the important role of trisomy 21 and GATA1 mutation in the development of transient neonatal leukemia.
Literatur
1.
Zurück zum Zitat Brissette MD, Duval-Arnould BJ, Gordon BG, Cotelingam JD (1994) Acute megakaryoblastic leukemia following transient myeloproliferative disorder in a patient without Down syndrome. Am J Hematol 47:316–319PubMedCrossRef Brissette MD, Duval-Arnould BJ, Gordon BG, Cotelingam JD (1994) Acute megakaryoblastic leukemia following transient myeloproliferative disorder in a patient without Down syndrome. Am J Hematol 47:316–319PubMedCrossRef
2.
Zurück zum Zitat Bull MJ, Committee on Genetics (2011) Health supervision for children with Down syndrome. Pediatrics 128:393–406PubMedCrossRef Bull MJ, Committee on Genetics (2011) Health supervision for children with Down syndrome. Pediatrics 128:393–406PubMedCrossRef
3.
Zurück zum Zitat Carpenter E, Valverde-Garduno V, Sternberg A, Mitchell C, Roberts I, Vyas P, Vora A (2005) GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder. Br J Haematol 128:548–551PubMedCrossRef Carpenter E, Valverde-Garduno V, Sternberg A, Mitchell C, Roberts I, Vyas P, Vora A (2005) GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder. Br J Haematol 128:548–551PubMedCrossRef
4.
Zurück zum Zitat Cushing T, Clericuzio CL, Wilson CS, Taub JW, Ge Y, Reichard KK, Winter SS (2006) Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. J Pediatr 148:687–689PubMedCrossRef Cushing T, Clericuzio CL, Wilson CS, Taub JW, Ge Y, Reichard KK, Winter SS (2006) Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. J Pediatr 148:687–689PubMedCrossRef
5.
Zurück zum Zitat Elagib KE, Racke FK, Mogass M, Khetawat R, Delehanty LL, Goldfarb AN (2003) RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood 101:4333–4341PubMedCrossRef Elagib KE, Racke FK, Mogass M, Khetawat R, Delehanty LL, Goldfarb AN (2003) RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood 101:4333–4341PubMedCrossRef
6.
Zurück zum Zitat Gamis AS, Alonzo TA, Gerbing RB, Hilden JM, Sorrell AD, Sharma M, Loew TW, Arceci RJ, Barnard D, Doyle J, Massey G, Perentesis J, Ravindranath Y, Taub J, Smith FO (2011) Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from Children’s Oncology Group Study A2971. Blood 118:6752–6759PubMedCentralPubMedCrossRef Gamis AS, Alonzo TA, Gerbing RB, Hilden JM, Sorrell AD, Sharma M, Loew TW, Arceci RJ, Barnard D, Doyle J, Massey G, Perentesis J, Ravindranath Y, Taub J, Smith FO (2011) Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from Children’s Oncology Group Study A2971. Blood 118:6752–6759PubMedCentralPubMedCrossRef
7.
Zurück zum Zitat Gamis AS, Hilden JM (2002) Transient myeloproliferative disorder, a disorder with too few data and many unanswered questions: does it contain an important piece of the puzzle to understanding hematopoiesis and acute myelogenous leukemia? J Pediatr Hematol Oncol 24:2–5PubMedCrossRef Gamis AS, Hilden JM (2002) Transient myeloproliferative disorder, a disorder with too few data and many unanswered questions: does it contain an important piece of the puzzle to understanding hematopoiesis and acute myelogenous leukemia? J Pediatr Hematol Oncol 24:2–5PubMedCrossRef
8.
Zurück zum Zitat Gurbuxani S, Vyas P, Crispino JD (2004) Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome. Blood 103:399–406PubMedCrossRef Gurbuxani S, Vyas P, Crispino JD (2004) Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome. Blood 103:399–406PubMedCrossRef
9.
Zurück zum Zitat Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A (2003) GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood 101:4301–4304PubMedCrossRef Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A (2003) GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood 101:4301–4304PubMedCrossRef
10.
Zurück zum Zitat Hitzler J, Zipursky A (2005) Gata1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome—a new tool with significant potential applications. Leuk Res 29:1239–1240PubMedCrossRef Hitzler J, Zipursky A (2005) Gata1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome—a new tool with significant potential applications. Leuk Res 29:1239–1240PubMedCrossRef
11.
Zurück zum Zitat Inaba H, Londero M, Maurer SH, Onciu M, Ge Y, Taub JW, Rubnitz JE, Raimondi SC (2011) Acute megakaryoblastic leukemia without GATA1 mutation after transient myeloproliferative disorder in an infant without Down syndrome. J Clin Oncol 29:e230–e233PubMedCentralPubMedCrossRef Inaba H, Londero M, Maurer SH, Onciu M, Ge Y, Taub JW, Rubnitz JE, Raimondi SC (2011) Acute megakaryoblastic leukemia without GATA1 mutation after transient myeloproliferative disorder in an infant without Down syndrome. J Clin Oncol 29:e230–e233PubMedCentralPubMedCrossRef
12.
Zurück zum Zitat Ivan DL, Cromwell P (2013) Clinical practice guidelines for management of children with Down syndrome: part I and II. J Pediatr Health Care Ivan DL, Cromwell P (2013) Clinical practice guidelines for management of children with Down syndrome: part I and II. J Pediatr Health Care
13.
14.
Zurück zum Zitat Kempski HM, Craze JL, Chessells JM, Reeves BR (1998) Cryptic deletions and inversions of chromosome 21 in a phenotypically normal infant with transient abnormal myelopoiesis: a molecular cytogenetic study. Br J Haematol 103:473–479PubMedCrossRef Kempski HM, Craze JL, Chessells JM, Reeves BR (1998) Cryptic deletions and inversions of chromosome 21 in a phenotypically normal infant with transient abnormal myelopoiesis: a molecular cytogenetic study. Br J Haematol 103:473–479PubMedCrossRef
15.
Zurück zum Zitat Lange B (2000) The management of neoplastic disorders of haematopoiesis in children with Down’s syndrome. Br J Haematol 110:512–524PubMedCrossRef Lange B (2000) The management of neoplastic disorders of haematopoiesis in children with Down’s syndrome. Br J Haematol 110:512–524PubMedCrossRef
16.
Zurück zum Zitat Magalhães IQ, Splendore A, Emerenciano M, Córdoba MS, Córdoba JC, Allemand PA, Ferrari I, Pombo-de-Oliveira MS (2005) Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol 27:50–52PubMedCrossRef Magalhães IQ, Splendore A, Emerenciano M, Córdoba MS, Córdoba JC, Allemand PA, Ferrari I, Pombo-de-Oliveira MS (2005) Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol 27:50–52PubMedCrossRef
17.
Zurück zum Zitat Moritake H, Yamada A, Kimoto Y, Sawa D, Shimonodan H, Nunoi H (2012) Acute megakaryoblastic leukemia and severe pulmonary fibrosis in a child with Down syndrome: successful treatment with ultra low-dose cytarabine using GATA1 mutation to monitor minimal residual disease. Am J Hematol :447–450 Moritake H, Yamada A, Kimoto Y, Sawa D, Shimonodan H, Nunoi H (2012) Acute megakaryoblastic leukemia and severe pulmonary fibrosis in a child with Down syndrome: successful treatment with ultra low-dose cytarabine using GATA1 mutation to monitor minimal residual disease. Am J Hematol :447–450
18.
Zurück zum Zitat Polski JM, Galambos C, Gale GB, Dunphy CH, Evans HL, Batanian JR (2002) Acute megakaryoblastic leukemia after transient myeloproliferative disorder with clonal karyotype evolution in a phenotypically normal neonate. J Pediatr Hematol Oncol 24:50–54PubMedCrossRef Polski JM, Galambos C, Gale GB, Dunphy CH, Evans HL, Batanian JR (2002) Acute megakaryoblastic leukemia after transient myeloproliferative disorder with clonal karyotype evolution in a phenotypically normal neonate. J Pediatr Hematol Oncol 24:50–54PubMedCrossRef
19.
Zurück zum Zitat Pine SR, Guo Q, Yin C, Jayabose S, Levendoglu–Tugal O, Ozkaynak MF, Sandoval C (2005) Gata1 mutations as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. Leuk Res 29:1353–1356PubMedCrossRef Pine SR, Guo Q, Yin C, Jayabose S, Levendoglu–Tugal O, Ozkaynak MF, Sandoval C (2005) Gata1 mutations as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. Leuk Res 29:1353–1356PubMedCrossRef
20.
Zurück zum Zitat Richards M, Welch J, Watmore A, Readett D, Vora AJ (1998) Trisomy 21 associated transient neonatalmyeloproliferation in the absence of Down’s syndrome. Arch Dis Child Fetal Neonatal Ed 79:F215–F217PubMedCentralPubMedCrossRef Richards M, Welch J, Watmore A, Readett D, Vora AJ (1998) Trisomy 21 associated transient neonatalmyeloproliferation in the absence of Down’s syndrome. Arch Dis Child Fetal Neonatal Ed 79:F215–F217PubMedCentralPubMedCrossRef
22.
Zurück zum Zitat Roy A, Roberts I, Vyas P (2012) Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med 17:196–201PubMedCrossRef Roy A, Roberts I, Vyas P (2012) Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med 17:196–201PubMedCrossRef
23.
Zurück zum Zitat Solky BA, Yang FC, Xu X, Levins P (2004) Transient myeloproliferative disorder causing a vesiculopustular eruption in a phenotypically normal neonate. Pediatr Dermatol 21:551–554PubMedCrossRef Solky BA, Yang FC, Xu X, Levins P (2004) Transient myeloproliferative disorder causing a vesiculopustular eruption in a phenotypically normal neonate. Pediatr Dermatol 21:551–554PubMedCrossRef
24.
Zurück zum Zitat Tsai M-H, Hou J-W, Yang C-P, Yang P-H, Chu S-M, Hsu J-F, Chiang M-C, Huang H-R (2011) Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome. Indian J Pediatr 78:826–832PubMedCrossRef Tsai M-H, Hou J-W, Yang C-P, Yang P-H, Chu S-M, Hsu J-F, Chiang M-C, Huang H-R (2011) Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome. Indian J Pediatr 78:826–832PubMedCrossRef
25.
Zurück zum Zitat Taub JW, Ravindranath Y (2002) Down syndrome and the transient myeloproliferative disorder: why is it transient? J Pediatr Hematol Oncol 24:6–8PubMedCrossRef Taub JW, Ravindranath Y (2002) Down syndrome and the transient myeloproliferative disorder: why is it transient? J Pediatr Hematol Oncol 24:6–8PubMedCrossRef
26.
Zurück zum Zitat Van den Berg H, Hopman AH, Kraakman KC, de Jong D (2004) Spontaneous remission in congenital leukemia is not related to (mosaic) trisomy 21: case presentation and literature review. Pediatr Hematol Oncol 21:135–144PubMedCrossRef Van den Berg H, Hopman AH, Kraakman KC, de Jong D (2004) Spontaneous remission in congenital leukemia is not related to (mosaic) trisomy 21: case presentation and literature review. Pediatr Hematol Oncol 21:135–144PubMedCrossRef
27.
Zurück zum Zitat Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 32:148–152PubMedCrossRef Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 32:148–152PubMedCrossRef
29.
Zurück zum Zitat Williams BA, Meyn MS, Hitzler JK (2011) Transient leukemia in newborns Down syndrome: diagnostic and management challenges. J Pediatr Hematol Oncol 33:261–263CrossRef Williams BA, Meyn MS, Hitzler JK (2011) Transient leukemia in newborns Down syndrome: diagnostic and management challenges. J Pediatr Hematol Oncol 33:261–263CrossRef
30.
Zurück zum Zitat Wolfe LC, Weinstein HJ, Ferry JA (2003) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 19–200. A five-day-old girl with leukocytosis and a worsening rash from birth. N Engl J Med 348:2557–2566PubMedCrossRef Wolfe LC, Weinstein HJ, Ferry JA (2003) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 19–200. A five-day-old girl with leukocytosis and a worsening rash from birth. N Engl J Med 348:2557–2566PubMedCrossRef
31.
Zurück zum Zitat Worth LL, Zipursky A, Christensen H, Tubergen D (1999) Transient leukemia with extreme basophilia in a phenotypically normal infant with blast cells containing a pseudodiploid clone, 46, XY i(21)(q10). J Pediatr Hematol Oncol 21:63–66PubMedCrossRef Worth LL, Zipursky A, Christensen H, Tubergen D (1999) Transient leukemia with extreme basophilia in a phenotypically normal infant with blast cells containing a pseudodiploid clone, 46, XY i(21)(q10). J Pediatr Hematol Oncol 21:63–66PubMedCrossRef
32.
Zurück zum Zitat Yanase K, Kato K, Katayama N, Mouri Y, Kobayashi C, Shiono J, Abe M, Yoshimi A, Koike K, Arai J-I et al (2010) Transient abnormal myelopoiesis in a cytogenetically normal neonate. Int J Hematol 92:527–530PubMedCrossRef Yanase K, Kato K, Katayama N, Mouri Y, Kobayashi C, Shiono J, Abe M, Yoshimi A, Koike K, Arai J-I et al (2010) Transient abnormal myelopoiesis in a cytogenetically normal neonate. Int J Hematol 92:527–530PubMedCrossRef
33.
Zurück zum Zitat Zipursky A, Brown E, Christensen H, Sutherland R, Doyle J (1997) Leukemia and/or myeloproliferative syndrome in neonates with Down syndrome. Semin Perinatol 21:97–101PubMedCrossRef Zipursky A, Brown E, Christensen H, Sutherland R, Doyle J (1997) Leukemia and/or myeloproliferative syndrome in neonates with Down syndrome. Semin Perinatol 21:97–101PubMedCrossRef
34.
Zurück zum Zitat Zipursky A, Poon A, Doyle J (1992) Leukemia in Down syndrome: a review. Pediatr Hematol Oncol 9:139–149PubMedCrossRef Zipursky A, Poon A, Doyle J (1992) Leukemia in Down syndrome: a review. Pediatr Hematol Oncol 9:139–149PubMedCrossRef
Metadaten
Titel
Transient leukemia in a newborn without Down syndrome: case report and review of the literature
verfasst von
Laurence Rozen
Sophie Huybrechts
Laurence Dedeken
Catherine Heijmans
Barbara Dessars
Pierre Heimann
Frédéric Lambert
Denis F. Noubouossie
Alina Ferster
Anne Demulder
Publikationsdatum
01.12.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
European Journal of Pediatrics / Ausgabe 12/2014
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-013-2163-8

Weitere Artikel der Ausgabe 12/2014

European Journal of Pediatrics 12/2014 Zur Ausgabe

Update Pädiatrie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.