Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

被引：1

作者：

Tamura, Akihiro ^{[1
]}

Uemura, Suguru ^{[1
,2
]}

Matsubara, Kousaku ^{[3
]}

Kozuki, Eru ^{[3
]}

Tanaka, Toshikatsu ^{[4
]}

Nino, Nanako ^{[1
,2
]}

Yokoi, Takehito ^{[1
,5
]}

Saito, Atsuro ^{[1
]}

Ishida, Toshiaki ^{[1
]}

Hasegawa, Daiichiro ^{[1
]}

Umeki, Ikumi ^{[6
]}

Niihori, Tetsuya ^{[6
]}

Nakazawa, Yozo ^{[7
]}

Koike, Kenichi ^{[8
]}

Aoki, Yoko ^{[6
]}

Kosaka, Yoshiyuki ^{[1
]}

机构：

[1] Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Hyogo, Japan

[2] Kobe Univ, Sch Med, Dept Pediat, Kobe, Hyogo, Japan

[3] Kobe City Nishi Kobe Med Ctr, Dept Pediat, Kobe, Hyogo, Japan

[4] Kobe Childrens Hosp, Dept Cardiol, Kobe, Hyogo, Japan

[5] Osaka Univ Hosp, Dept Pediat, Suita, Osaka, Japan

[6] Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi, Japan

[7] Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, Japan

[8] Shinonoi Gen Hosp, Minami Nagano Med Ctr, Dept Pediat, Nagano, Japan

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 07期

基金：

日本学术振兴会;

关键词：

hypertrophic cardiomyopathy; juvenile myelomonocytic leukemia; Noonan syndrome; p.Thr42Ala; premature death;

D O I：

10.1002/ccr3.1568

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a case of a neonate with Noonan syndrome presenting with concurrent hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia, which resulted in premature death. Cases with Noonan syndrome diagnosed during the neonatal period might not necessarily show mild clinical course, and premature death is a possible outcome to be considered.

引用

页码：1202 / 1207

页数：6

共 39 条

[1] The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders [J].

Aoki, Yoko ;

Niihori, Tetsuya ;

Narumi, Yoko ;

Kure, Shigeo ;

Matsubara, Yoichi .

HUMAN MUTATION, 2008, 29 (08) :992-1006

[2] Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome [J].

Aoki, Yoko ;

Niihori, Tetsuya ;

Banjo, Toshihiro ;

Okamoto, Nobuhiko ;

Mizuno, Seiji ;

Kurosawa, Kenji ;

Ogata, Tsutomu ;

Takada, Fumio ;

Yano, Michihiro ;

Ando, Toru ;

Hoshika, Tadataka ;

Barnett, Christopher ;

Ohashi, Hirofumi ;

Kawame, Hiroshi ;

Hasegawa, Tomonobu ;

Okutani, Takahiro ;

Nagashima, Tatsuo ;

Hasegawa, Satoshi ;

Funayama, Ryo ;

Nagashima, Takeshi ;

Nakayama, Keiko ;

Inoue, Shin-ichi ;

Watanabe, Yusuke ;

Ogura, Toshihiko ;

Matsubara, Yoichi .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (01) :173-180

[3] Ras/MAPK syndromes and childhood hemato-oncological diseases [J].

Aoki, Yoko ;

Matsubara, Yoichi .

INTERNATIONAL JOURNAL OF HEMATOLOGY, 2013, 97 (01) :30-36

[4] Occurrence of myeloproliferative disorder in patients with Noonan syndrome [J].

BaderMeunier, B ;

Tchernia, G ;

Mielot, F ;

Fontaine, JL ;

Thomas, C ;

Lyonnet, S ;

Lavergne, JM ;

Dommergues, JP .

JOURNAL OF PEDIATRICS, 1997, 130 (06) :885-889

[5] Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2 [J].

Barford, D ;

Neel, BG .

STRUCTURE, 1998, 6 (03) :249-254

[6] Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome [J].

Cordeddu, Viviana ;

Yin, Jiani C. ;

Gunnarsson, Cecilia ;

Virtanen, Carl ;

Drunat, Severine ;

Lepri, Francesca ;

De Luca, Alessandro ;

Rossi, Cesare ;

Ciolfi, Andrea ;

Pugh, Trevor J. ;

Bruselles, Alessandro ;

Priest, James R. ;

Pennacchio, Len A. ;

Lu, Zhibin ;

Danesh, Arnavaz ;

Quevedo, Rene ;

Hamid, Alaa ;

Martinelli, Simone ;

Pantaleoni, Francesca ;

Gnazzo, Maria ;

Daniele, Paola ;

Lissewski, Christina ;

Bocchinfuso, Gianfranco ;

Stella, Lorenzo ;

Odent, Sylvie ;

Philip, Nicole ;

Faivre, Laurence ;

Vlckova, Marketa ;

Seemanova, Eva ;

Digilio, Cristina ;

Zenker, Martin ;

Zampino, Giuseppe ;

Verloes, Alain ;

Dallapiccola, Bruno ;

Roberts, Amy E. ;

Cave, Helene ;

Gelb, Bruce D. ;

Neel, Benjamin G. ;

Tartaglia, Marco .

HUMAN MUTATION, 2015, 36 (11) :1080-1087

[7] RASopathies: Clinical Diagnosis in the First Year of Life [J].

Digilio, M. C. ;

Lepri, F. ;

Baban, A. ;

Dentici, M. L. ;

Versacci, P. ;

Capolino, R. ;

Ferese, R. ;

De Luca, A. ;

Tartaglia, M. ;

Marino, B. ;

Dallapiccola, B. .

MOLECULAR SYNDROMOLOGY, 2010, 1 (06) :282-289

[8] Atrioventricular canal defect in patients with RASopathies [J].

Digilio, Maria Cristina ;

Lepri, Francesca Romana ;

Dentici, Maria Lisa ;

Henderson, Alex ;

Baban, Anwar ;

Roberti, Maria Cristina ;

Capolino, Rossella ;

Versacci, Paolo ;

Surace, Cecilia ;

Angioni, Adriano ;

Tartaglia, Marco ;

Marino, Bruno ;

Dallapiccola, Bruno .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (02) :200-204

[9] Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene [J].

Digilio, MC ;

Conti, E ;

Sarkozy, A ;

Mingarelli, R ;

Dottorini, T ;

Marino, B ;

Pizzuti, A ;

Dallapiccola, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :389-394

[10] Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis [J].

Flex, Elisabetta ;

Jaiswal, Mamta ;

Pantaleoni, Francesca ;

Martinelli, Simone ;

Strullu, Marion ;

Fansa, Eyad K. ;

Caye, Aurelie ;

De Luca, Alessandro ;

Lepri, Francesca ;

Dvorsky, Radovan ;

Pannone, Luca ;

Paolacci, Stefano ;

Zhang, Si-Cai ;

Fodale, Valentina ;

Bocchinfuso, Gianfranco ;

Rossi, Cesare ;

Burkitt-Wright, Emma M. M. ;

Farrotti, Andrea ;

Stellacci, Emilia ;

Cecchetti, Serena ;

Ferese, Rosangela ;

Bottero, Lisabianca ;

Castro, Silvana ;

Fenneteau, Odile ;

Brethon, Benoit ;

Sanchez, Massimo ;

Roberts, Amy E. ;

Yntema, Helger G. ;

Van der Burgt, Ineke ;

Cianci, Paola ;

Bondeson, Marie-Louise ;

Digilio, Maria Cristina ;

Zampino, Giuseppe ;

Kerr, Bronwyn ;

Aoki, Yoko ;

Loh, Mignon L. ;

Palleschi, Antonio ;

Di Schiavi, Elia ;

Care, Alessandra ;

Selicorni, Angelo ;

Dallapiccola, Bruno ;

Cirstea, Ion C. ;

Stella, Lorenzo ;

Zenker, Martin ;

Gelb, Bruce D. ;

Cave, Helene ;

Ahmadian, Mohammad R. ;

Tartaglia, Marco .

HUMAN MOLECULAR GENETICS, 2014, 23 (16) :4315-4327

← 1 2 3 4 →