Skip to main content
Erschienen in: Head and Neck Pathology 2/2022

21.08.2021 | Case Reports

Sinonasal SMARCB1 (INI1) Deficient Carcinoma with Yolk Sac Tumor Differentiation: A Case Report and Treatment Options

verfasst von: Burak Hazir, Berkay Şímșek, Arzu Erdemír, Fatih Gürler, Ozan Yazici, Yusuf Kizil, Utku Aydíl

Erschienen in: Head and Neck Pathology | Ausgabe 2/2022

Einloggen, um Zugang zu erhalten

Abstract

SMARCB1 (INI1) deficient carcinoma (SDC) is a newly-described, aggressive, high-grade malignancy of the adult population. Rarely, these tumors demonstrate yolk sac differentiation. Treatment protocols are not defined due to the rarity of this entity. A 55 year-old-male presented with a tumor originating in the maxillary sinus. He was treated with neoadjuvant therapy followed by radical surgery and adjuvant treatment. We review the literature and discuss the course of disease and treatments of sinonasal SDC with yolk sac tumor differentiation. To our knowledge, this is the sixth reported case of sinonasal SDC with yolk sac tumor differentiation. This is the first publication describing the clinical course and efficacy of therapeutic interventions.
Literatur
1.
Zurück zum Zitat Stelow EB, Bishop JA. Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Nasal Cavity, Paranasal Sinuses and Skull Base. Head Neck Pathol. 2017;11:3–15.CrossRef Stelow EB, Bishop JA. Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Nasal Cavity, Paranasal Sinuses and Skull Base. Head Neck Pathol. 2017;11:3–15.CrossRef
2.
Zurück zum Zitat Bishop JA, Antonescu CR, Westra WH. SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. Am J Surg Pathol. 2014;38:1282–9.CrossRef Bishop JA, Antonescu CR, Westra WH. SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. Am J Surg Pathol. 2014;38:1282–9.CrossRef
3.
Zurück zum Zitat Agaimy A, Hartmann A, Antonescu CR, Chiosea SI, El-Mofty SK, Geddert H, et al. SMARCB1 (INI-1)-deficient Sinonasal Carcinoma: A Series of 39 Cases Expanding the Morphologic and Clinicopathologic Spectrum of a Recently Described Entity. Am J Surg Pathol. 2017;41:458–71.CrossRef Agaimy A, Hartmann A, Antonescu CR, Chiosea SI, El-Mofty SK, Geddert H, et al. SMARCB1 (INI-1)-deficient Sinonasal Carcinoma: A Series of 39 Cases Expanding the Morphologic and Clinicopathologic Spectrum of a Recently Described Entity. Am J Surg Pathol. 2017;41:458–71.CrossRef
4.
Zurück zum Zitat Agaimy A, Koch M, Lell M, Semrau S, Dudek W, Wachter DL, et al. SMARCB1(INI1)-deficient sinonasal basaloid carcinoma: a novel member of the expanding family of SMARCB1-deficient neoplasms. Am J Surg Pathol. 2014;38:1274–81.CrossRef Agaimy A, Koch M, Lell M, Semrau S, Dudek W, Wachter DL, et al. SMARCB1(INI1)-deficient sinonasal basaloid carcinoma: a novel member of the expanding family of SMARCB1-deficient neoplasms. Am J Surg Pathol. 2014;38:1274–81.CrossRef
5.
Zurück zum Zitat Zamecnik M, Rychnovsky J, Syrovatka J. Sinonasal SMARCB1 (INI1) Deficient Carcinoma With Yolk Sac Tumor Differentiation: Report of a Case and Comparison With INI1 Expression in Gonadal Germ Cell Tumors. Int J Surg Pathol. 2018;26:245–9.CrossRef Zamecnik M, Rychnovsky J, Syrovatka J. Sinonasal SMARCB1 (INI1) Deficient Carcinoma With Yolk Sac Tumor Differentiation: Report of a Case and Comparison With INI1 Expression in Gonadal Germ Cell Tumors. Int J Surg Pathol. 2018;26:245–9.CrossRef
6.
Zurück zum Zitat Shah AA, Jain D, Ababneh E, Agaimy A, Hoschar AP, Griffith CC, et al. SMARCB1 (INI-1)-Deficient Adenocarcinoma of the Sinonasal Tract: A Potentially Under-Recognized form of Sinonasal Adenocarcinoma with Occasional Yolk Sac Tumor-Like Features. Head Neck Pathol. 2020;14:465–72.CrossRef Shah AA, Jain D, Ababneh E, Agaimy A, Hoschar AP, Griffith CC, et al. SMARCB1 (INI-1)-Deficient Adenocarcinoma of the Sinonasal Tract: A Potentially Under-Recognized form of Sinonasal Adenocarcinoma with Occasional Yolk Sac Tumor-Like Features. Head Neck Pathol. 2020;14:465–72.CrossRef
7.
Zurück zum Zitat Li CY, Han YM, Xu K, Wu SY, Lin XY, Cao HY. Case Report: SMARCB1 (INI-1)-Deficient Carcinoma of the Nasal Cavity with Pure Yolk Sac Tumor Differentiation and Elevated Serum AFP Levels. Onco Targets Ther. 2021;14:2227–33.CrossRef Li CY, Han YM, Xu K, Wu SY, Lin XY, Cao HY. Case Report: SMARCB1 (INI-1)-Deficient Carcinoma of the Nasal Cavity with Pure Yolk Sac Tumor Differentiation and Elevated Serum AFP Levels. Onco Targets Ther. 2021;14:2227–33.CrossRef
8.
Zurück zum Zitat Kakkar A, Antony VM, Pramanik R, Sakthivel P, Singh CA, Jain D. SMARCB1 (INI1)-deficient sinonasal carcinoma: a series of 13 cases with assessment of histologic patterns. Hum Pathol. 2019;83:59–67.CrossRef Kakkar A, Antony VM, Pramanik R, Sakthivel P, Singh CA, Jain D. SMARCB1 (INI1)-deficient sinonasal carcinoma: a series of 13 cases with assessment of histologic patterns. Hum Pathol. 2019;83:59–67.CrossRef
9.
Zurück zum Zitat Kim KH, Roberts CW. Targeting EZH2 in cancer. Nat Med. 2016;22:128–34.CrossRef Kim KH, Roberts CW. Targeting EZH2 in cancer. Nat Med. 2016;22:128–34.CrossRef
10.
Zurück zum Zitat Trieu V, Aulet RM, Ciolino A, Rimash T. SMARCB1-Deficient Sinonasal Carcinoma: A Case Report and Discussion of the Clinical Implications. Ann Otol Rhinol Laryngol. 2019;128:676–80.CrossRef Trieu V, Aulet RM, Ciolino A, Rimash T. SMARCB1-Deficient Sinonasal Carcinoma: A Case Report and Discussion of the Clinical Implications. Ann Otol Rhinol Laryngol. 2019;128:676–80.CrossRef
11.
Zurück zum Zitat Wasserman JK, Dickson BC, Perez-Ordonez B, de Almeida JR, Irish JC, Weinreb I. INI1 (SMARCB1)-Deficient Sinonasal Carcinoma: A Clinicopathologic Report of 2 Cases. Head Neck Pathol. 2017;11:256–61.CrossRef Wasserman JK, Dickson BC, Perez-Ordonez B, de Almeida JR, Irish JC, Weinreb I. INI1 (SMARCB1)-Deficient Sinonasal Carcinoma: A Clinicopathologic Report of 2 Cases. Head Neck Pathol. 2017;11:256–61.CrossRef
12.
Zurück zum Zitat Shanti RM, Farahi A, Curry JM, Alawi F. SMARCB1 (Integrase Interactor 1)-Deficient Sinonasal Carcinoma of the Maxillary Sinus: A Newly Described Sinonasal Neoplasm. J Oral Maxillofac Surg. 2020;78:1870.PubMed Shanti RM, Farahi A, Curry JM, Alawi F. SMARCB1 (Integrase Interactor 1)-Deficient Sinonasal Carcinoma of the Maxillary Sinus: A Newly Described Sinonasal Neoplasm. J Oral Maxillofac Surg. 2020;78:1870.PubMed
Metadaten
Titel
Sinonasal SMARCB1 (INI1) Deficient Carcinoma with Yolk Sac Tumor Differentiation: A Case Report and Treatment Options
verfasst von
Burak Hazir
Berkay Şímșek
Arzu Erdemír
Fatih Gürler
Ozan Yazici
Yusuf Kizil
Utku Aydíl
Publikationsdatum
21.08.2021
Verlag
Springer US
Erschienen in
Head and Neck Pathology / Ausgabe 2/2022
Elektronische ISSN: 1936-0568
DOI
https://doi.org/10.1007/s12105-021-01375-9

Weitere Artikel der Ausgabe 2/2022

Head and Neck Pathology 2/2022 Zur Ausgabe

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Open Access Biomarker Leitthema

Um auch an kleinen Gewebeproben zuverlässige und reproduzierbare Ergebnisse zu gewährleisten ist eine strenge Qualitätskontrolle in jedem Schritt des Arbeitsablaufs erforderlich. Eine nicht ordnungsgemäße Prüfung oder Behandlung des …

Vergleichende Pathologie in der onkologischen Forschung

Pathologie Leitthema

Die vergleichende experimentelle Pathologie („comparative experimental pathology“) ist ein Fachbereich an der Schnittstelle von Human- und Veterinärmedizin. Sie widmet sich der vergleichenden Erforschung von Gemeinsamkeiten und Unterschieden von …

Gastrointestinale Stromatumoren

Open Access GIST CME-Artikel

Gastrointestinale Stromatumoren (GIST) stellen seit über 20 Jahren ein Paradigma für die zielgerichtete Therapie mit Tyrosinkinaseinhibitoren dar. Eine elementare Voraussetzung für eine mögliche neoadjuvante oder adjuvante Behandlung bei …

Personalisierte Medizin in der Onkologie

Aufgrund des erheblichen technologischen Fortschritts in der molekularen und genetischen Diagnostik sowie zunehmender Erkenntnisse über die molekulare Pathogenese von Krankheiten hat in den letzten zwei Jahrzehnten ein grundlegender …