PMID- 32815783
OWN - NLM
STAT- MEDLINE
DCOM- 20210906
LR  - 20211204
IS  - 1615-5742 (Electronic)
IS  - 1093-5266 (Linking)
VI  - 23
IP  - 6
DP  - 2020 Nov-Dec
TI  - Mediastinal Germ Cell Tumor and Acute Megakaryoblastic Leukemia With Co-occurring 
      KRAS Mutation and Complex Cytogenetics.
PG  - 461-466
LID - 10.1177/1093526620951327 [doi]
AB  - Young males have a unique but rare predilection to develop mediastinal 
      nonseminomatous germ cell tumors (NSGCTs) and concomitant acute megakaryoblastic 
      leukemia (AMKL). Common cytogenetic and molecular abnormalities such as 
      isochromosome 12p and somatic Tumor Protein P53(TP53) and Phosphatase And Tensin 
      Homolog (PTEN) mutations have been reported in the presumed mutual neoplastic 
      clones of origin. We report the case of a 17-year-old male who presented with a 
      mediastinal NSGCT with high-grade sarcomatous transformation and a diagnosis of 
      AMKL approximately 4 months later. Next-generation sequencing revealed identical 
      KRAS Proto-Oncogene, GTPase (KRAS) p.Ala146Thr, TP53 p.Leu257Pro, and PTEN 
      p.Leu181Pro missense mutations at similar variant allele frequencies in both the 
      NSGCT and AMKL samples. Cytogenetic and microarray analyses detected shared copy 
      gains in all chromosomes except chromosomes 9, 13, and Y. Multiple additional 
      clonal chromosomal alterations were detected in the AMKL sample when compared 
      with the NSGCT. This case emphasizes the shared clonal origins of these 
      malignancies and identifies KRAS and other copy number alterations as potential 
      molecular drivers in a subset of these combined diseases.
FAU - Amra, Nasir
AU  - Amra N
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Zarate, Luis Velasquez
AU  - Zarate LV
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Punia, Jyotinder N
AU  - Punia JN
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Mahajan, Priya
AU  - Mahajan P
AUID- ORCID: 0000-0002-6710-5865
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Stevens, Alexandra M
AU  - Stevens AM
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Roy, Angshumoy
AU  - Roy A
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Curry, Choladda V
AU  - Curry CV
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Cortes-Santiago, Nahir
AU  - Cortes-Santiago N
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
FAU - Fisher, Kevin E
AU  - Fisher KE
AUID- ORCID: 0000-0002-6179-0937
AD  - Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200820
PL  - United States
TA  - Pediatr Dev Pathol
JT  - Pediatric and developmental pathology : the official journal of the Society for 
      Pediatric Pathology and the Paediatric Pathology Society
JID - 9809673
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (KRAS protein, human)
RN  - 0 (MAS1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
RN  - EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
RN  - Nonseminomatous germ cell tumor
SB  - IM
MH  - Adolescent
MH  - Biomarkers, Tumor/*genetics
MH  - Cytogenetic Analysis
MH  - Humans
MH  - Leukemia, Megakaryoblastic, Acute/complications/diagnosis/genetics/*pathology
MH  - Male
MH  - Mediastinal Neoplasms/complications/diagnosis/genetics/*pathology
MH  - Mutation
MH  - Neoplasms, Germ Cell and Embryonal/complications/diagnosis/genetics/*pathology
MH  - Proto-Oncogene Mas
MH  - Proto-Oncogene Proteins p21(ras)/*genetics
MH  - Testicular Neoplasms/complications/diagnosis/genetics/*pathology
OTO - NOTNLM
OT  - KRAS
OT  - acute myeloid leukemia
OT  - cytogenetics
OT  - germ cell tumor
OT  - microarray
OT  - sarcoma
EDAT- 2020/08/21 06:00
MHDA- 2021/09/07 06:00
CRDT- 2020/08/21 06:00
PHST- 2020/08/21 06:00 [pubmed]
PHST- 2021/09/07 06:00 [medline]
PHST- 2020/08/21 06:00 [entrez]
AID - 10.1177/1093526620951327 [doi]
PST - ppublish
SO  - Pediatr Dev Pathol. 2020 Nov-Dec;23(6):461-466. doi: 10.1177/1093526620951327. 
      Epub 2020 Aug 20.