NUT midline carcinoma: a neoplasm with diagnostic challenges in cytology

Zhu, Bing; Laskin, William B.; Chen, Y.; French, Christopher A.; Cameron, Michael J.; Nayar, Ritu; Lin, Xiaoqi

doi:10.1111/j.1365-2303.2010.00838.x

Cited by 27 publications

(41 citation statements)

References 13 publications

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“…Table 2 describes other clinical cases reporting alpha–fetoprotein elevation. Moreover, in NUT midline carcinoma immunohistochemical expression of alpha-fetoprotein is negative, as it was in our patient and in other NUT midline carcinoma cases describing serum alpha-fetoprotein elevation [1, 3, 17]. Interestingly, alpha–fetoprotein levels during treatment were not reported in the majority of the cases, whereas this marker correlated with disease course in our patient.…”

Section: Discussionsupporting

confidence: 60%

Alpha–fetoprotein elevation in NUT midline carcinoma: a case report

D’Ambrosio¹,

Palesandro²,

Moretti

et al. 2017

BMC Cancer

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BackgroundNuclear protein in testis (NUT) midline carcinoma is a rarely diagnosed and potentially under-recognized type of squamous carcinoma that is considered one of the most aggressive human solid tumors. Alpha-fetoprotein elevation has been associated with chronic liver diseases and a limited number of cancers. In particular, in presence of a mediastinal mass in a young man, alpha-fetoprotein elevation is considered nearly pathognomonic of a non-seminoma germ-cell tumor.Case presentationA 22-year old man without any comorbidity was diagnosed with a large mediastinal mass with skeletal and lymph node metastases. The clinical picture was dominated by a life-threatening superior vena cava syndrome with elevated alpha-fetoprotein and lactate dehydrogenase that supported the diagnostic suspicion of mediastinal germ-cell tumor. However, a biopsy showed a poorly-differentiated and diffusely necrotic carcinoma. We eventually reached the diagnosis of the peculiar entity of NUT midline carcinoma, but the differential diagnosis was quite challenging also because alpha-fetoprotein is not reported as a marker of NUT midline carcinoma. Notably, alpha-fetoprotein levels correlated with disease course.ConclusionsThe life-threatening aggressiveness of NUT midline carcinoma mandates to reach the right diagnosis in the shortest possible time. In this regard, poorly differentiated carcinomas lacking glandular differentiation mandate testing for NUT expression by immunohistochemistry. Awareness of a potentially misleading tumor marker elevation can help to broaden the differential diagnosis and establish the most appropriate treatment.

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Section: Discussionsupporting

confidence: 60%

Alpha–fetoprotein elevation in NUT midline carcinoma: a case report

D’Ambrosio¹,

Palesandro²,

Moretti

et al. 2017

BMC Cancer

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“…The background contained naked nuclei and karyorrhectic debris; nuclear crush was also found. Zhu et al have seen a subcarinal mass. Smears were composed of monomorphic, noncohesive cells with rounded contours.…”

Section: Discussionmentioning

confidence: 99%

“…There ares a limited number of cases diagnosed or studied by cytology. The extensive review of the literature allowed to find only eight such cases of NMC …”

mentioning

confidence: 99%

Cytological features of NUT midline carcinoma arising in sino‐nasal tract and parotid gland: Report of two new cases and review of the literature

Klijanienko

Tourneau

Rodriguez

et al. 2016

Diagnostic Cytopathology

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Nuclear Protein in Testis (NUT) Midline Carcinoma (NMC) represents a recently described, uncommon, high-grade and extremely lethal malignancy mainly occurring in children and young adults. Such tumors are genetically characterized by chromosomal rearrangements of the NUT gene. Cytological description of NUT carcinoma is limited and only seven cases were reported up to date. We show here another two cases studied cytologically with molecular and immunohistochemical confirmation. In both cases smears were hypercellular and composed of isolated or clustered small to medium-sized in size with roundish and oval shape cells. Nuclei were either regular or roundish containing dusty chromatin and prominent nucleoli. Mitotic figures were prominent. Cytoplasm was scant, strongly basophilic. Cell debris, necrosis, and apoptosis were also prominent. One of the cases was studied by FISH and the second case was studied by RT-PCR and BRD4-NUT translocation was found in both cases. Moreover, the clinical evolution was aggressive in both cases with rapid fatal clinical outcome. NUT carcinomas are an underdiagnosed entity which should be taken into consideration when poorly differentiated carcinomas was diagnosed in children or young adults. Cytology material may be successfully used for morphological and molecular diagnosis. Diagn. Cytopathol. 2016;44:753-756. © 2016 Wiley Periodicals, Inc.

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“…Comprehensive summary of relevant clinicopathological data of thoracic NC published in the literature[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20].…”

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confidence: 99%