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Uterine epithelioid leiomyosarcoma with c-kit expression and YWHAE gene rearrangement: a case report of a diagnostic pitfall of uterine sarcoma.

Abstract Uterine sarcoma is a rare tumor that is often difficult to classify based on morphological and immunohistochemical analysis alone. Limited access to molecular biological analysis in routine practice would hinder making a definitive diagnosis.
PMID
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Authors

Mayor MeshTerms

Gene Rearrangement

Keywords

FISH

Uterine leiomyosarcoma

YWHAE rearrangement

c-kit

Journal Title diagnostic pathology
Publication Year Start




PMID- 28288693
OWN - NLM
STAT- MEDLINE
DA  - 20170314
DCOM- 20170317
LR  - 20170319
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 12
IP  - 1
DP  - 2017 Mar 14
TI  - Uterine epithelioid leiomyosarcoma with c-kit expression and YWHAE gene
      rearrangement: a case report of a diagnostic pitfall of uterine sarcoma.
PG  - 26
LID - 10.1186/s13000-017-0615-6 [doi]
AB  - BACKGROUND: Uterine sarcoma is a rare tumor that is often difficult to classify
      based on morphological and immunohistochemical analysis alone. Limited access to 
      molecular biological analysis in routine practice would hinder making a
      definitive diagnosis. CASE PRESENTATION: In this report, we describe a case of a 
      mesenchymal tumor arising from the uterine cervix in a 52-year-old woman. From
      microscopic morphology of the resected specimen, epithelioid leiomyosarcoma,
      high-grade endometrial stromal sarcoma, or uterine gastrointestinal stromal tumor
      (GIST) were considered as differential diagnoses. The immunophenotype of the
      tumor featured smooth muscle differentiation and hormone receptor expression. The
      cell membrane and cytoplasm were positive for c-kit, although no mutation was
      found in the c-kit or PDGFRA gene. Fluorescence in situ hybridization (FISH)
      analysis revealed a relatively low frequency of YWHAE rearrangement, whereas
      there were few NUTM2A and NUTM2B split signals. CONCLUSIONS: In this case, the
      tumor was not typical of any three of the differential diagnoses mentioned above.
      However, insufficient frequency of YWHAE, NUTM2A, and NUTM2B gene rearrangement
      and absence of mutation in both the c-kit and PDGFRA genes suggested that this
      tumor should be categorized as epithelioid leiomyosarcoma. This is an instructive
      case showing a potential diagnostic pitfall of uterine sarcoma. Comprehensive
      approaches including molecular biological techniques are required for definitive 
      diagnosis.
FAU - Kubo, Terufumi
AU  - Kubo T
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Sugita, Shintaro
AU  - Sugita S
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Wada, Ryuichi
AU  - Wada R
AD  - Department of Integrated Diagnostic Pathology, Nippon Medical School, Tokyo,
      Japan.
FAU - Kikuchi, Noriaki
AU  - Kikuchi N
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Iwasaki, Masahiro
AU  - Iwasaki M
AD  - Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical
      University, Sapporo, Japan.
FAU - Ito, Yumika
AU  - Ito Y
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Sugawara, Taro
AU  - Sugawara T
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Fujita, Hiromi
AU  - Fujita H
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Emori, Makoto
AU  - Emori M
AD  - Department of Orthopaedic Surgery, School of Medicine, Sapporo Medical
      University, South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Tanaka, Ryoichi
AU  - Tanaka R
AD  - Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical
      University, Sapporo, Japan.
FAU - Hirano, Hiroshi
AU  - Hirano H
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
FAU - Saito, Tsuyoshi
AU  - Saito T
AD  - Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical
      University, Sapporo, Japan.
FAU - Hasegawa, Tadashi
AU  - Hasegawa T
AD  - Department of Surgical Pathology, School of Medicine, Sapporo Medical University,
      South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.
      [email protected]
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170314
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (14-3-3 Proteins)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (YWHAE protein, human)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-kit)
SB  - IM
MH  - 14-3-3 Proteins/*genetics
MH  - Biomarkers, Tumor/analysis
MH  - Female
MH  - *Gene Rearrangement
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Leiomyosarcoma/*diagnosis/genetics/pathology
MH  - Middle Aged
MH  - Proto-Oncogene Proteins c-kit/*biosynthesis
MH  - Sarcoma, Endometrial Stromal/*diagnosis/genetics/pathology
MH  - Uterine Neoplasms/*diagnosis/genetics/pathology
PMC - PMC5348967
OTO - NOTNLM
OT  - *FISH
OT  - *Uterine leiomyosarcoma
OT  - *YWHAE rearrangement
OT  - *c-kit
EDAT- 2017/03/16 06:00
MHDA- 2017/03/18 06:00
CRDT- 2017/03/15 06:00
PHST- 2017/01/04 [received]
PHST- 2017/02/27 [accepted]
AID - 10.1186/s13000-017-0615-6 [doi]
AID - 10.1186/s13000-017-0615-6 [pii]
PST - epublish
SO  - Diagn Pathol. 2017 Mar 14;12(1):26. doi: 10.1186/s13000-017-0615-6.

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