Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature

被引：0

作者：

De Martino, Lucia ^{[1
]}

Russo, Carmela ^{[2
]}

Bifano, Delfina ^{[3
]}

Quaglietta, Lucia ^{[1
]}

Spennato, Pietro ^{[4
]}

Cinalli, Giuseppe ^{[4
]}

机构：

[1] Santobono Pausilipon Childrens Hosp, Dept Pediat Oncol, Neurooncol Unit, Naples, Italy

[2] Santobono Pausilipon Childrens Hosp, Dept Neurosci, Neuroradiol Unit, Naples, Italy

[3] Santobono Pausilipon Childrens Hosp, Dept Pathol, Patol Unit, Naples, Italy

[4] Santobono Pausilipon Childrens Hosp, Dept Pediat Neurosci, Pediat Neurosurg Unit, Naples, Italy

来源：

CHILDS NERVOUS SYSTEM | 2024年 / 40卷 / 08期

关键词：

Pineocytoma; Pallister-Killian syndrome; Genetic; Brain tumors; 12P ABNORMALITIES;

D O I：

10.1007/s00381-024-06426-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pallister-Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.

引用

页码：2619 / 2623

页数：5

共 14 条

[1] Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review
Arghir, Aurora
Popescu, Roxana
Resmerita, Irina
Budisteanu, Magdalena
Butnariu, Lacramioara Ionela
Gorduza, Eusebiu Vlad
Gramescu, Mihaela
Panzaru, Monica Cristina
Papuc, Sorina Mihaela
Sireteanu, Adriana
Tutulan-Cunita, Andreea
Rusu, Cristina
[J]. GENES, 2021, 12 (06)
[2] Pallister-Killian syndrome: a study of 22 British patients
Blyth, Moira
Maloney, Viv
Beal, Sarah
Collinson, Morag
Huang, Shuwen
Crolla, John
Temple, I. Karen
Baralle, Diana
[J]. JOURNAL OF MEDICAL GENETICS, 2015, 52 (07) : 454 - 464
[3] ETV6: A versatile player in leukemogenesis
Bohlander, SK
[J]. SEMINARS IN CANCER BIOLOGY, 2005, 15 (03) : 162 - 174
[4] Assessment of isochromosome 12p and 12p abnormalities in germ cell tumors using fluorescence in situ hybridization, single-nucleotide polymorphism arrays, and next-generation sequencing/mate-pair sequencing
Freitag, C. Eric
Sukov, William R.
Bryce, Alan H.
Berg, Jamie, V
Vanderbilt, Chad M.
Shen, Wei
Smadbeck, James B.
Greipp, Patricia T.
Ketterling, Rhett P.
Jenkins, Robert B.
Herrera-Hernandez, Loren
Costello, Brian A.
Thompson, R. Houston
Boorjian, Stephen A.
Leibovich, Bradley C.
Jimenez, Rafael E.
Murphy, Stephen J.
Vasmatzis, George
Cheville, John C.
Gupta, Sounak
[J]. HUMAN PATHOLOGY, 2021, 112 : 20 - 34
[5] KRAS Alleles: The Devil Is in the Detail
Haigis, Kevin M.
[J]. TRENDS IN CANCER, 2017, 3 (10): : 686 - 697
[6] Molecular characterization of 12p abnormalities in hematologic malignancies: Deletion of KIP1, rearrangement of TEL, and amplification of CCND2
Hoglund, M
Johansson, B
PedersenBjergaard, J
Marynen, P
Mitelman, F
[J]. BLOOD, 1996, 87 (01) : 324 - 330
[7] Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development
Izumi, Kosuke
Ganetzky, Rebecca D.
Wertheim, Gerald B. W.
Skraban, Cara M.
Bedoukian, Emma C.
Wilkens, Alisha
Fincher, Christopher
Thomas, Nina H.
Ginsberg, Jill P.
Rheingold, Susan R.
Conlin, Laura K.
Deardorff, Matthew A.
[J]. MOLECULAR SYNDROMOLOGY, 2023, : 303 - 309
[8] Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
Izumi, Kosuke
Conlin, Laura K.
Berrodin, Donna
Fincher, Christopher
Wilkens, Alisha
Haldeman-Englert, Chad
Saitta, Sulagna C.
Zackai, Elaine H.
Spinner, Nancy B.
Krantz, Ian D.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (12) : 3033 - 3045
[9] Multiple endocrine neoplasia syndromes associated with mutation of p27
Lee, M.
Pellegata, N. S.
[J]. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2013, 36 (09): : 781 - 787
[10] Mauceri L, 2000, AM J MED GENET, V95, P75, DOI 10.1002/1096-8628(20001106)95:1<75::AID-AJMG15>3.0.CO

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