PMID- 38279510
OWN - NLM
STAT- MEDLINE
DCOM- 20240214
LR  - 20240314
IS  - 2573-8348 (Electronic)
IS  - 2573-8348 (Linking)
VI  - 7
IP  - 2
DP  - 2024 Feb
TI  - COL1A1::PDGFB fusion-associated uterine fibrosarcoma: A case report and review of 
      the literature.
PG  - e1969
LID - 10.1002/cnr2.1969 [doi]
LID - e1969
AB  - BACKGROUND: Mesenchymal neoplasms of the uterus encompass a diverse group of 
      tumors, with varying characteristics and origins, collectively accounting for 8% 
      of uterine malignancies. The most common variants include uterine leiomyosarcoma, 
      low-grade and high-grade endometrial stromal sarcoma, adenosarcoma, and 
      undifferentiated sarcoma. Clinical presentation is often nonspecific and can lead 
      to delayed diagnosis. Uterine sarcomas are generally aggressive, resulting in 
      poorer prognosis compared to carcinomas. Recent advances in molecular techniques, 
      such as next-generation sequencing (NGS), have led to the identification of new 
      subtypes of uterine sarcomas, including COL1A1::PDGFB fusion-associated 
      fibrosarcoma, which has a specific chromosomal translocation t(17;22)(q22;q13). 
      Imatinib, a tyrosine kinase inhibitor (TKI), is an effective treatment for 
      dermatofibrosarcoma protuberans (DFSP), marked by this translocation. CASE: We 
      present the case of a 42-year-old woman diagnosed with COL1A1::PDGFB 
      fusion-associated uterine fibrosarcoma. The patient underwent total hysterectomy 
      and excision of the tumor, initially misdiagnosed as a low-grade leiomyosarcoma. 
      Subsequent histological examination, immunohistochemistry, and fluorescence in 
      situ hybridization (FISH) confirmed the diagnosis. After 10 months, disease 
      recurrence was detected, and Imatinib therapy was initiated at a dose of 400 mg 
      daily. An allergic reaction led to a temporary discontinuation, but upon 
      resumption with appropriate medication, a positive radiological response was 
      observed. The patient achieved a complete remission after 2 years and is still on 
      Imatinib treatment. CONCLUSIONS: COL1A1::PDGFB fusion-associated uterine 
      fibrosarcoma is an extremely rare mesenchymal neoplasm. In a case we present 
      herein, we treated a patient with imatinib as first-line medical therapy. The 
      patient is currently in complete remission after 37 months from treatment start. 
      To the best of our knowledge, this represents a unique observation. We also 
      provide a detailed literature review of the published cases so far. Prospective 
      case series are needed to further understand the natural history of these tumors 
      and optimize treatment strategies.
CI  - (c) 2024 The Authors. Cancer Reports published by Wiley Periodicals LLC.
FAU - Rota, Simone
AU  - Rota S
AUID- ORCID: 0009-0006-9172-7003
AD  - Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori di 
      Milano, Milan, Italy.
FAU - Franza, Andrea
AU  - Franza A
AD  - Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori di 
      Milano, Milan, Italy.
FAU - Fabbroni, Chiara
AU  - Fabbroni C
AD  - Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori di 
      Milano, Milan, Italy.
FAU - Paolini, Biagio
AU  - Paolini B
AD  - Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori di 
      Milano, Milan, Italy.
FAU - Greco, Francesca Gabriella
AU  - Greco FG
AD  - Department of Interventional Radiology, Fondazione Istituto di Ricovero e Cura a 
      Carattere Scientifico (IRCCS) Istituto Nazionale Dei Tumori, Milan, Italy.
FAU - Alessi, Alessandra
AU  - Alessi A
AD  - Department of Nuclear Medicine, Fondazione IRCCS Istituto Nazionale Tumori, 
      Milan, Italy.
FAU - Padovano, Barbara
AU  - Padovano B
AD  - Department of Nuclear Medicine, Fondazione IRCCS Istituto Nazionale Tumori, 
      Milan, Italy.
FAU - Casali, Paolo
AU  - Casali P
AD  - Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori di 
      Milano, Milan, Italy.
AD  - Medical Oncology, Universita degli Studi, Milan, Italy.
FAU - Sanfilippo, Roberta
AU  - Sanfilippo R
AD  - Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori di 
      Milano, Milan, Italy.
LA  - eng
PT  - Case Reports
PT  - Review
DEP - 20240126
PL  - United States
TA  - Cancer Rep (Hoboken)
JT  - Cancer reports (Hoboken, N.J.)
JID - 101747728
RN  - 0 (Proto-Oncogene Proteins c-sis)
RN  - 8A1O1M485B (Imatinib Mesylate)
SB  - IM
MH  - Female
MH  - Humans
MH  - Adult
MH  - Proto-Oncogene Proteins c-sis/genetics/therapeutic use
MH  - Imatinib Mesylate/therapeutic use
MH  - *Dermatofibrosarcoma/diagnosis/genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - *Leiomyosarcoma
MH  - *Skin Neoplasms/pathology
MH  - Neoplasm Recurrence, Local
MH  - *Fibrosarcoma/diagnosis/drug therapy/genetics
MH  - *Soft Tissue Neoplasms
MH  - Translocation, Genetic
MH  - Uterus/pathology
PMC - PMC10849982
OTO - NOTNLM
OT  - COL1A1::PDGFB
OT  - Imatinib
OT  - fibrosarcoma
OT  - soft tissue sarcomas
OT  - translocation t(17;22)(q22;q13)
OT  - uterus
COIS- Dr Sanfilippo reported receiving personal fees from PharmaMar, Rain Oncology, and 
      Boehringer Ingelheim and fees to her institution from Advenchen Laboratories, 
      Amgen, Bayer, Epizyme, Eli Lilly, Daiichi, GlaxoSmithKline (GSK), Karyopharm, 
      Novartis, Rain Therapeutics, Pfizer, SpringWorks Therapeutics, and PharmaMar 
      outside the submitted work. Dr Fabbroni reported fees to her institution from 
      Advenchen Laboratories, Amgen Dompe, AROG Pharmaceuticals, Bayer, Blueprint 
      Medicines, Deciphera, Epizyme, Eli Lilly, Daiichi Sankyo, GSK, Karyopharm, 
      Novartis, Pfizer, PharmaMar, SpringWorks Therapeutics, and Rain Therapeutics 
      outside the submitted work. Dr Casali reported receiving grants from PharmaMar, 
      Advenchen Laboratories, Amgen Dompe, AROG Pharmaceuticals, Bayer, Blueprint 
      Medicines, Daiichi Sankyo, Eisai, Eli Lilly, Epizyme Inc, GSK, Deciphera, 
      Karyopharm Pharmaceuticals, Novartis, and Pfizer outside the submitted work. The 
      remaining authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2024/01/27 12:44
MHDA- 2024/02/10 22:54
PMCR- 2024/01/26
CRDT- 2024/01/27 01:03
PHST- 2023/11/28 00:00 [revised]
PHST- 2023/09/18 00:00 [received]
PHST- 2023/12/28 00:00 [accepted]
PHST- 2024/02/10 22:54 [medline]
PHST- 2024/01/27 12:44 [pubmed]
PHST- 2024/01/27 01:03 [entrez]
PHST- 2024/01/26 00:00 [pmc-release]
AID - CNR21969 [pii]
AID - 10.1002/cnr2.1969 [doi]
PST - ppublish
SO  - Cancer Rep (Hoboken). 2024 Feb;7(2):e1969. doi: 10.1002/cnr2.1969. Epub 2024 Jan 
      26.