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Molecular Diagnosis

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Practical Gynecologic Pathology

Part of the book series: Practical Anatomic Pathology ((PAP))

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Abstract

This chapter is meant to demonstrate the growing need for molecular diagnostic techniques in various areas of gynecologic pathology ranging from gestational trophoblastic disease to uterine and ovarian neoplasia. Several new entities are discussed that, pertinently, are defined by their molecular diagnostic findings, in the form of either gene mutations or gene fusions. The specific topics discussed herein include (1) partial and complete hydatidiform molar gestations and their mimickers; (2) the subtypes of high-grade endometrial stromal sarcoma and the gene fusions that define them; (3) leiomyosarcoma variants that have lower mitotic rate thresholds than conventional spindle cell leiomyosarcoma and the gene fusions that define them; (4) the recently described fibrosarcoma-like tumors of the uterus; (5) the significance of DICER1 mutations in gynecologic pathology and how they relate to our complex and evolving understanding of ovarian sex cord-stromal tumors including Sertoli-Leydig cell tumors, juvenile granulosa cell tumors, and gynandroblastomas; (6) the significance of FOXL2 mutations in gynecologic pathology; (7) the gynecologic tumors that are defined by SWI/SNF family protein deficiency, and their prognostic, syndromic, and therapeutic implications; (8) the significance of microsatellite instability in gynecologic tumors, including their histological features, Lynch syndromic associations, and therapeutic implications; and (9) the significance of STK11 mutation in gynecologic pathology in relation to both Peutz-Jeghers syndrome and a novel unusual adnexal tumor seen both in the syndromic and sporadic setting. An overarching concept in this chapter is our emphasis that there is a growing need for the integration of molecular diagnostic techniques in gynecologic pathology, due both to the disease-defining nature of the molecular genetic underpinnings of each of the entities discussed herein and because of theragnostic reasons, since many of these newly defined entities have mutations or gene fusions that are associated with specific targeted therapies.

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Abbreviations

AGCT:

Adult granulosa cell tumor

CHM:

Complete hydatidiform mole

DFSP:

Dermatofibrosarcoma protuberans

ERMS:

Embryonal rhabdomyosarcoma

FBCHM:

Familial recurrent hydatidiform moles/familial biparental complete hydatidiform moles

GAB:

Gynandroblastoma

HGESS:

High-grade endometrial stromal sarcomas

HPF:

High-power field

IHC:

Immunohistochemistry

IMT:

Inflammatory myofibroblastic tumor

ITD:

Internal tandem duplication

LGESS:

Low-grade endometrial stromal sarcoma

LMS:

Leiomyosarcoma

MMMT:

Malignant mixed Mullerian tumor

MMR:

Mismatch repair proteins

MMR-D:

Mismatch repair protein deficiency

MPNST:

Malignant peripheral nerve sheath tumor

MRT:

Malignant rhabdoid tumor of the uterus

MSI:

Microsatellite instability

PCR:

Polymerase chain reaction

PHM:

Partial hydatidiform mole

RTPS:

Rhabdoid tumor predisposition syndrome

SCCOHT:

Small cell carcinoma of the ovary, hypercalcemic type

SCTAT :

Sex cord tumor with annular tubules

SFT:

Solitary fibrous tumor

SLCT:

Sertoli-Leydig cell tumor

TILs:

Tumor-infiltrating lymphocytes

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Author information

Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Paul Weisman

  2. Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Jian-Jun Wei

  3. Department of Pathology, Yale School of Medicine, New Haven, CT, USA

    Pei Hui

Authors
  1. Paul Weisman
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  2. Jian-Jun Wei
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  3. Pei Hui
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Corresponding author

Correspondence to Paul Weisman .

Editor information

Editors and Affiliations

  1. Department of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

    Jian-Jun Wei

  2. Department of Pathology, Yale School of Medicine, New Haven, CT, USA

    Pei Hui

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Weisman, P., Wei, JJ., Hui, P. (2021). Molecular Diagnosis. In: Wei, JJ., Hui, P. (eds) Practical Gynecologic Pathology. Practical Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-68608-6_16

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  • DOI: https://doi.org/10.1007/978-3-030-68608-6_16

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-68607-9

  • Online ISBN: 978-3-030-68608-6

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