scholarly journals NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case

2021 ◽  
Author(s):  
Abbas Agaimy ◽  
Lars Tögel ◽  
Robert Stoehr ◽  
Norbert Meidenbauer ◽  
Sabine Semrau ◽  
...  
Keyword(s):  
Mucoepidermoid Carcinoma ◽  
Low Grade ◽  
Thyroid Malignancy ◽  
Squamous Differentiation ◽  
Anatomic Site ◽  
Unique Case ◽  
Poorly Differentiated Carcinoma ◽  
Poorly Differentiated ◽  
Nut Carcinoma ◽  
Sclerosing Mucoepidermoid Carcinoma

AbstractSclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is an exceedingly rare low-grade thyroid malignancy of unknown histogenesis. NUT carcinoma is another rare, highly aggressive neoplasm with predilection for the midline, defined by recurrent NUTM1 fusions. The bromodomain family genes (BRD4 or BRD3) and rarely NSD3, ZNF532, or others are known fusion partners. We describe an extraordinary case of a 42-year-old female with a thyroid SMECE treated by thyroidectomy and neck dissection. She presented 6 months later with extensive midline recurrence encasing/compressing the trachea. Biopsy revealed poorly differentiated carcinoma with abrupt squamous differentiation, suggestive of NUT carcinoma. Immunohistochemistry confirmed expression of monoclonal NUT antibody. Targeted RNA sequencing revealed the NSD3-NUTM1 fusion in the NUT carcinoma, but not in the SMECE. This unique case highlights unusual sequential origin of two exceptionally rare entities at same anatomic site and underlines the necessity of sampling unexpectedly aggressive recurrences of otherwise indolent malignancies.

scholarly journals Challenging Diagnosis in NUT Carcinoma

2021 ◽  
pp. 106689692110195
Author(s):  
Grosse Claudia ◽  
Grosse Alexandra
Keyword(s):  
Nuclear Protein ◽  
Hematological Malignancy ◽  
Undifferentiated Carcinoma ◽  
Squamous Differentiation ◽  
Poorly Differentiated Carcinoma ◽  
Poorly Differentiated ◽  
Nut Carcinoma ◽  
Disseminated Disease ◽  
Generation Sequencing

Nuclear protein in testis (NUT) carcinoma represents a highly aggressive, poorly differentiated carcinoma that is genetically defined by rearrangement of NUT gene. The histomorphological appearance ranges from entirely undifferentiated carcinoma to carcinoma with prominent squamous differentiation. NUT carcinoma can display neuroendocrine features. Although it is typically distributed along the midline axis, it may manifest in nonmidline locations. The majority of patients develop rapidly disseminated disease. We illustrate 2 cases of NUT carcinoma, one located in the lung, which closely resembled a neuroendocrine carcinoma, and the other one with assumed lung origin demonstrating metastatic dissemination with diffuse bone involvement, which was clinically first suspected to be a hematological malignancy. Due to its undifferentiated nature, NUT carcinoma may be confused with many entities. NUT immunohistochemistry is considered to be sufficient for the diagnosis. Fluorescence in-situ hybridization analysis and next-generation sequencing are currently used to confirm the diagnosis.

scholarly journals Unique case of inverted papilloma of septum with nasopharyngeal carcinoma: Is it a metachronous tumour?

2020 ◽  
Vol 8 ◽  
pp. 2050313X2092203
Author(s):  
Susanne Flach ◽  
Aaron SJ Ferguson ◽  
Sharon White ◽  
Paul S White ◽  
Jaiganesh Manickavasagam
Keyword(s):  
Malignant Transformation ◽  
Inverted Papilloma ◽  
High Rate ◽  
Unique Case ◽  
Solitary Lesion ◽  
Poorly Differentiated Carcinoma ◽  
Nasopharyngeal Biopsy ◽  
Poorly Differentiated ◽  
The Right

Inverted papilloma is a rare and benign tumour. It affects the nasal cavity and paranasal sinuses, has a high rate of recurrence and is associated with malignant transformation. Only few cases of a poorly differentiated carcinoma arising from inverted papilloma have been reported, none of which in the nasopharynx. We report a case of a 37-year-old female, who presented originally in 2012 with inverted papilloma of the nasal septum which was surgically resected. Nasopharyngeal biopsy from 2014 was reported as carcinoma in situ and treated with local endoscopic resection. Three years later she presented with a solitary lesion of the right Eustachian tube opening, confirmed as invasive poorly differentiated carcinoma. Imaging revealed T4 N2b M0 malignancy with skull base and prevertebral space invasion, likely extension into right temporal lobe and malignant adenopathy. Although rare, malignant transformation of inverted papilloma in unusual places should be considered during workup and monitoring of patients.

Tumor-to-tumor metastasis: esophageal carcinoma metastatic to an intracranial paraganglioma

2009 ◽  
Vol 110 (4) ◽  
pp. 744-748 ◽  
Author(s):  
Jian-Qiang Lu ◽  
Moosa Khalil ◽  
William Hu ◽  
Garnette R. Sutherland ◽  
Arthur W. Clark
Keyword(s):  
Esophageal Carcinoma ◽  
Tumor Metastasis ◽  
Histopathological Examination ◽  
Unique Case ◽  
Blurred Vision ◽  
Poorly Differentiated Carcinoma ◽  
History Of ◽  
Poorly Differentiated ◽  
Tumor To Tumor Metastasis ◽  
Upper Gastrointestinal

Tumor-to-tumor metastasis (TTM) is a relatively rare but well-documented phenomenon. The authors report a unique case of esophageal carcinoma metastatic to an intracranial paraganglioma. A sellar and suprasellar tumor was found using MR imaging in an 81-year-old man who presented with a 3-week history of progressive headache and blurred vision. A subtotal excision of the tumor was achieved. Histopathological examination of the tumor disclosed a neoplasm with two distinct components: one showing the classic Zellballen pattern of a paraganglioma, the other exhibiting malignant features leading to the diagnosis of a poorly differentiated carcinoma metastatic to a sellar/suprasellar paraganglioma. The primary esophageal carcinoma was not uncovered until 2 months later, after the patient presented with upper gastrointestinal bleeding. The patient died 4 months after initial presentation. This case expands the spectrum of TTM, and emphasizes the importance of TTM in the practice of pathology.

scholarly journals Histomorphological and Immunohistochemical Study of Extra Nodal Lymphoma

2021 ◽  
Vol 8 (2) ◽  
pp. A50-55
Author(s):  
B R Vani ◽  
Sandhyalakshmi B N ◽  
Netra M Sajjan ◽  
Panduranga C ◽  
Deepak Kumar B ◽  
...  
Keyword(s):  
Morphological Diversity ◽  
Treatment Modalities ◽  
Cell Phenotype ◽  
Anatomical Location ◽  
Anatomic Site ◽  
Female Ratio ◽  
Poorly Differentiated Carcinoma ◽  
Poorly Differentiated ◽  
Age Range ◽  
Male To Female

Background: NHL are heterogeneous group of hematolymphoid malignancy occurring in nodal and extra nodal sites. Extra nodal lymphoma (ENL) is distinct from nodal lymphomas due to varied anatomical location, morphological diversity. Methods: A retrospective observational study was conducted in the department of pathology from January 2011 till December 2019. Clinical details and other investigations were recorded. Gross morphological features were noted. Slides are reviewed microscopically and blocks were subjected to IHC for further typing cases were selected as per Dawson et al criteria. Result: During study period, ENL constituted 25 cases (29.4%) of the 85 cases of all NHL. Age range is 05 to 63 years with a mean age of 42.5 years. Male to female ratio is 2.2 :1.Head and neck is the most common site of ENHL constituting 19 cases(76%), next commonest location is in the GIT with 3 cases (12%). We had one each case of ENHL in testis, breast and spine (4% each). On IHC, 92% cases (23 cases) exhibited   B cell phenotype and the remaining 08 % (02 cases) were of T cell phenotype. Conclusion: Lymphomas in the extra nodal sites are rare but has the propensity to occur in any anatomic site. Hence a differential of lymphoma to be considered in extra nodal site. Histology with IHC enables to differentiate from poorly differentiated carcinoma as the treatment modalities and prognosis varies.

NUT (Nuclear Protein in Testis) Carcinoma: A Report of Two Cases With Different Histopathologic Features

2018 ◽  
Vol 27 (2) ◽  
pp. 225-229 ◽  
Author(s):  
Rekha Reddy ◽  
Tina R. Woods ◽  
Robert W. Allan ◽  
Paras Malhotra ◽  
Hiren J. Mehta ◽  
...  
Keyword(s):  
Nuclear Protein ◽  
Undifferentiated Carcinoma ◽  
Epithelioid Cells ◽  
Squamous Differentiation ◽  
Poorly Differentiated Carcinoma ◽  
First Case ◽  
Eosinophilic Cytoplasm ◽  
Poorly Differentiated ◽  
Characteristic Features ◽  
Actual Incidence

NUT (nuclear protein in testis) carcinoma (NC) is an aggressive carcinoma characterized by rearrangements of the NUT gene on chromosome 15q14. Histologically, it is a poorly differentiated carcinoma composed of monotonous, medium-sized, round cells with scant amphophilic or eosinophilic cytoplasm. Foci of abrupt keratinization are often seen. In this report, we compare the morphology of 2 cases of NC. The first case shows characteristic features of uniform, round epithelioid cells admixed with foci of abrupt keratinization. The second case demonstrates nests of epithelioid-polygonal cells that appear to be loosely cribriform within a mucoid stroma. Although considered rare, the actual incidence of NC may be underestimated, as it is likely that many go undiagnosed because the morphology deviates from what is typical. Our report demonstrates that NC should always be considered in any case of an undifferentiated carcinoma and should not be excluded if typical histologic and immunohistochemical features of squamous differentiation are lacking.

scholarly journals Thyroid Carcinoma with NSD3::NUTM1 Fusion: a Case with Thyrocyte Differentiation and Colloid Production

2022 ◽  
Author(s):  
Derek B. Allison ◽  
Justin Rueckert ◽  
Virgilius Cornea ◽  
Cortney Y. Lee ◽  
Julie Dueber ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Squamous Carcinoma ◽  
Exceptional Case ◽  
High Grade ◽  
Squamous Differentiation ◽  
Thyroid Carcinomas ◽  
Poorly Differentiated ◽  
Prognostic Implications ◽  
Nut Carcinoma

AbstractIn this report, we present a high-grade thyroid carcinoma with an NSD3::NUTM1 fusion detected on expanded next-generation sequencing testing. Nuclear protein of the testis (NUT) carcinomas comprise high-grade, aggressive tumors characterized by rearrangements of the NUTM1 gene with various partner genes, most commonly the bromodomain protein genes BRD4 and BRD3. Approximately 10% of NUT carcinomas contain an NSD3::NUTM1 fusion. NUT carcinomas manifest as poorly differentiated or undifferentiated squamous carcinomas, and 33% show areas of mature squamous differentiation. Only exceptionally have NUT carcinomas shown histology discordant from poorly differentiated/undifferentiated squamous carcinoma, and a thyroid NUT carcinoma with histologic thyrocyte differentiation has not been described to date. Our patient’s tumor exhibited mixed cytologic features suggestive of squamoid cells or papillary thyroid carcinoma cells. Overt squamous differentiation was absent, and the tumor produced colloid in poorly formed follicles. Immunophenotypically, the carcinoma was consistent with thyrocyte differentiation with expression of monoclonal PAX8, TTF1, and thyroglobulin (the last predominantly in extracellular colloid). There was zero to < 2% reactivity for proteins typically diffusely expressed in NUT carcinoma: p40, p63, and cytokeratins 5/6. NUT protein expression was equivocal, but fluorescence in situ hybridization confirmed a NUTM1 rearrangement. This exceptional case suggests that NUTM1 fusions may occur in an unknown number of aggressive thyroid carcinomas, possibly with distinctive histologic features but with thyrocyte differentiation. Recognition of this entity potentially has significant prognostic implications. Moreover, thyroid carcinomas with NUTM1 fusions may be amenable to treatment with NUT carcinoma-targeted therapy such as a bromodomain and extraterminal domain protein small molecular inhibitor (BETi).

scholarly journals Metastatic Basal Cell Carcinoma

2019 ◽  
Vol 152 (6) ◽  
pp. 706-717 ◽  
Author(s):  
Alvaro C Laga ◽  
Inga Marie Schaefer ◽  
Lynette M Sholl ◽  
Christopher A French ◽  
John Hanna
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Molecular Genetic ◽  
Molecular Testing ◽  
Squamous Differentiation ◽  
Primary Tumors ◽  
Poorly Differentiated Carcinoma ◽  
Metastatic Basal Cell Carcinoma ◽  
Poorly Differentiated

Abstract Objectives Diagnosis of metastatic basal cell carcinoma (BCC) remains challenging, in part due to its rarity. With the advent of molecularly targeted therapies, recognition of this entity is more important than ever. Methods We identified 11 cases of metastatic BCC over a 13-year period. We analyzed these tumors in conjunction with their respective primary tumors by histomorphologic, immunohistochemical, and molecular genetic analyses. Results We identified three morphologic patterns of metastasis in BCC. The most common (seven cases) was characterized by completely typical features of BCC. Two cases showed marked squamous differentiation within BCC. The final two cases showed exclusively features of a poorly differentiated carcinoma. One of these was definitively classified by molecular analysis, as both the primary and metastatic tumors harbored the same inactivating PTCH1 mutation. Conclusions This study illustrates multiple distinct morphologic patterns in metastatic BCC and highlights the utility of ancillary molecular testing for accurate diagnosis.

Mucoepidermoid carcinoma of the larynx

1989 ◽  
Vol 103 (4) ◽  
pp. 420-423 ◽  
Author(s):  
V. L. Cumberworth ◽  
A. Narula ◽  
K. A. MacLennan ◽  
P. J. Bradley
Keyword(s):  
Neck Dissection ◽  
Surgical Management ◽  
Mucoepidermoid Carcinoma ◽  
Radical Neck Dissection ◽  
Low Grade ◽  
High Grade ◽  
Carcinoma Of The Larynx ◽  
Laryngeal Tumours ◽  
Poorly Differentiated ◽  
Well Differentiated

AbstractWe report two cases of poorly differentiated mucoepidermoid carcinoma of the larynx which both remain well after surgical management. The first underwent a radical neck dissection for recurrent disease following radiotherapy and the second a total laryngectomy with elective post-operative radiotherapy.Although well differentiated (‘low grade’) mucoepidermoid tumours of the larynx may respond to radiotherapy surgical management is generally recommended for all grades of such tumours especially for poorly differentiated (‘high grade’) tumours. Elective post-operative radiotherapy is often advocated for high grade tumours; radical neck dissection is generally undertaken only in the presence of lymphadenopathy, although elective radical neck dissection has been proposed for high grade tumours. These cases emphasise the value of comprehensive surgical management for this condition.Such laryngeal tumours are difficult to diagnose histologically from biopsy and are often initially reported as squamous cell carcinoma.

Hosszú túléléssel járó malignus tumor miatti tüdőmegtartó centrális főhörgőplasztikáink

2013 ◽  
Vol 66 (6) ◽  
pp. 338-347
Author(s):  
László István Kecskés ◽  
Győző Bátor ◽  
Árpád Füredi ◽  
Pál Gehér ◽  
Béla Kiss ◽  
...  
Keyword(s):  
Mucoepidermoid Carcinoma ◽  
Low Grade ◽  
Karnofsky Index

AbsztraktBevezetés:A daganatos haláloki statisztikát vezető malignus hörgőtumorok eseteiben hosszú túlélésre csak a radikálisan operált betegek számíthatnak. Mégis, jól lokalizált, centrális és low grade malignomák kezelésében a tüdőmegtartó centrális bronchusplasztikáknak is helye lehet.Célkitűzés:A parenchymakonzerváló műtétek az egyik oldali teljes tüdő eltávolításának vagy az inoperabilitásnak a pozitív alternatívái lehetnek. Értékét a mortalitás, a szövődmények és a túlélés alapján lehet megítélni.Beteganyag és módszer:1985–2012 között 7130 hörgőcarcinomás beteget operáltunk. 80 centrális bronchoplasztikai műtétből7 esetben a jobb vagy bal főhörgő izolált vagy az egész bifurcatiós carina resectiója és a tüdő autotranszplantációja révén teljes tüdőmegtartást értünk el.A 4 nő és 3 férfi átlagéletkora 28,5 (14–58) év volt. 4 beteg carcinoid, 1 laphámrák, 1 mucoepidermoid carcinoma miatt, 1 beteg kissejtes tüdőrák (SCLC) miatti kemo-radioterápia (KRT) után került műtétre. 1 esetben izolált carina-, 1 betegnél balfőhörgő-, 5 betegnél jobbfőhörgő-resectio történt. Az anastomosist csomós PDS öltésekkel a műtéti területen át bevezetett steril tubus (6 beteg), illetve jet-katéter (1 beteg) felett varrtuk. A betegeket műtét után extubáltuk.Eredmények:Műtéti mortalitás nem volt. A korai posztoperatív szakban ismételt bronchoscopos leszívásokat alkalmaztunk. A SCLC miatt operált betegnél subacut anastomosisstenosis miatt kétoldali ideiglenes stentimplantációt alkalmaztunk. 174 hónapja él, Karnofsky-index 90%. 5 másik beteg is tumorrecidíva, metastasis nélkül él. A laphámrák miatti izolált jobbfőhörgő-resecált beteg 83 hónap után bal oldali disseminált kissejtes tüdőrák miatt exitált.Átlagos túlélés: 118 hónap (7–233).Következtetések:Fiatal betegeknél, lokalizált centrális főhörgő rosszindulatú daganatok szelektált eseteiben, izolált carina-főhörgő resectióval nemcsak teljes tüdőmegtartás, hanem hosszú túlélés is elérhető. Az irodalomban vannak hasonlóan sikeres, kisebb szériák és esetbemutatások (összes esetszám 200 alatt), de hosszú távú eredményekről kevés az adat. Hazánkban ez a legnagyobb széria, eredményeink nemzetközi kitekintéssel mérve is helytállóak.

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