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Authors Zong X, Yang JX, Zhang Y, Cao DY, Shen K, You Y, Guo LN
Received 24 October 2018
Accepted for publication 20 February 2019
Published 28 March 2019 Volume 2019:12 Pages 2365—2372
DOI https://doi.org/10.2147/OTT.S192111
Checked for plagiarism Yes
Review by Single-blind
Peer reviewers approved by Ms Justinn Cochran
Peer reviewer comments 5
Editor who approved publication: Dr Sanjay Singh
Abstract: 46, XY
pure gonadal dysgenesis (PGD) is characterized as a female phenotype with
strip-like gonads, which has a high tendency to develop into gonadal tumors.
Somatic-type malignancies of germ cell tumors (SMs of GCTs) refer to the
presence of malignant non-germ cell histologies admixed with GCTs, which are
usually chemoresistant and indicate poor prognosis. This case report aimed to
analyze the special histological type of GCTs and the importance of salvage
surgery in the treatment of refractory GCTs. We report a unique case of gonadal
yolk sac tumor (YST) transformed into SMs in a patient with 46, XY PGD. This
18-year-old woman underwent laparoscopic pelvic tumor resection, considered her
first surgery, 2 years ago, and pathology revealed YST with initial
alpha-fetoprotein (AFP) level measuring >3,000 ng/mL. She underwent
seven cycles of chemotherapy, and the AFP level decreased to within a normal
range after the second cycle. However, a computed tomography scan after the
seventh cycle revealed abdominal and pelvic metastases, and vaginal bleeding
was continuously observed. Laparoscopic exploration and laparotomy with tumor
subtotal resection were performed. A pathology report showed SMs (sarcoma)
derived from YST. Whole exome sequencing demonstrated that the main somatic
mutation was a non-synonymous mutation of KRAS (c.182A>G),
and this result did not show any indications for targeted drugs. She received
three cycles of PEI (cisplatin, etoposide, and ifosfamide) chemotherapy but
showed no response. She refused to undergo further treatment and has been alive
with the disease for 7 months. This suggests that SMs may be one of the
reasons for chemoresistance of refractory GCTs, and salvage surgery may be one
of the most effective treatments for this patient. Targeted therapy may be a
new choice for chemoresistant GCTs, but drug selection must be based on gene
sequencing, and its efficacy still needs to be verified by further study.
Keywords: disorder
of sex development, germ cell tumor, somatic-type malignancy, salvage surgery