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

D’Ambrosio, Lorenzo; Palesandro, Erica; Moretti, Martina; Pelosi, Giuseppe; Fabbri, Alessandra; Schianca, Fabrizio Carnevale; Aglietta, Massimo; Grignani, Giovanni

doi:10.1186/s12885-017-3262-0

Cited by 17 publications

(22 citation statements)

References 18 publications

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“…A bone scan was performed if clinically indicated or with high serum alkaline phosphatase. An attempt was made to do core needle biopsy for diagnostic confirmation to rule out somatic differentiation or NUT midline carcinoma, 15 especially in those with normal tumor marker or mild elevation in b‐HCG and also to rule out thymic malignancy or lymphoma from pure seminoma. Patients with elevated serum AFP and/or high b‐HCG and/or histological features of yolk sac tumor, embryonal carcinoma, immature teratoma, or mixed features were treated as NSGCT.…”

Section: Methodsmentioning

confidence: 99%

Multimodality treatment outcome in patients with primary malignant mediastinal germ cell tumor in adults

Biswas

Dabkara

Sengupta³

et al. 2020

Cancer Reports

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Background Malignant mediastinal germ cell tumor (MGCT) is rare and has poor outcomes even after multimodality treatment. Data from resource‐poor countries are scarce in the literature. Aims To evaluate the clinicopathologic features and treatment outcome of primary malignant MGCT at our center. Methods and Results Single institutional data review of patients aged ≥18 years, treated with a diagnosis of malignant MGCT between Nov'2013 and Nov'2019. Risk stratification was done as per International Germ Cell Cancer Collaborative Group (IGCCCG) classification. Patients were treated with platinum based chemotherapy and surgical resection for the residual disease was performed in non‐seminomatous histology.28 patients had MGCT with a median age of 25 years (range:18‐36) and all were male. Seven patients had superior vena cava obstruction (SVCO) at diagnosis and pre‐treatment histological diagnosis was available in 23 (82%) patients. Seven (25%) patients had seminoma histology, all were of good risk as per IGCCCG risk criteria, whereas others had non‐seminoma histology with poor‐risk group. Seven patients with seminoma histology achieved a complete response after initial treatment. Six patients with non‐seminoma histology underwent complete resection of residual disease post‐chemotherapy and five revealed residual viable tumors. After a median follow‐up of 10.8 months (range:2.9‐75), 3‐year progression‐free survival (PFS) and overall survival (OS) estimate was 61.2% and 94.7% in the whole cohort, respectively and 3‐year PFS and OS estimate was 100% in patients with seminoma histology. Conclusions This is the largest data set of MGCT patients' outcomes reported from India with multi‐modality treatment. All patients were male and one‐fourth had SVCO at presentation. Seminoma histology patients had a 100% outcome after initial platinum based chemotherapy. But, those with non‐seminoma histology had a poor outcome even with chemotherapy and surgery.

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Section: Methodsmentioning

confidence: 99%

Multimodality treatment outcome in patients with primary malignant mediastinal germ cell tumor in adults

Biswas

Dabkara

Sengupta³

et al. 2020

Cancer Reports

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“…Additionally, D'Ambrosio et al presented an NC case in which elevated AFP was observed. 17 However, not all previous NC cases presented with AFP. 18 NC is characterized by a NUT rearrangement, which can be detected by immunohistochemistry, karyotype, FISH, RT-PCR or NGS.…”

Section: Discussionmentioning

confidence: 97%

Diagnosis of NUT carcinoma of lung origin by next-generation sequencing: case report and review of the literature

Mao

Liao

et al. 2018

Cancer Biology & Therapy

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NUT carcinoma (NC) is an aggressive squamous tumor characterized by NUT gene rearrangement, and the most common fusion form is BRD4-NUT. However, NC diagnosis is difficult for its rareness and often being confused with a variety of poorly differentiated tumors. A 21-year-old Chinese woman was referred to our hospital for cough and intermittent fever. Chest computed tomography (CT) imaging revealed a left lobe hilar mass. Fiberoptic bronchoscopy results showed that tumor cells were poorly differentiated. In combination with immunohistochemistry staining, she was misdiagnosed with Ewing's sarcoma/primitive neuroectodermal tumor. Next-generation sequencing (NGS) revealing BRD4-NUT fusion, and NUT immunohistochemistry confirmed the diagnosis of NC. Subsequently, left pneumonectomy and lymph node dissection were performed, and the patient received pemetrexed and lobaplatin treatment. NGS technology played an important role in NC diagnosis in this case, and it may have clinical use for rare cancer diagnosis and guidance of potential targeted therapies. ARTICLE HISTORY

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“…In fact, one retrospective study that reviewed the presentation of 12 patients reported that half were initially misdiagnosed [ 10 ]. In individual case reports, NMC has been reported to have been initially misdiagnosed as other tumor types including lymphomas [ 11 ], adamantinoma [ 12 ], primary lung tumors [ 13 ], and germ cell tumors [ 14 ], which is not surprising as there have been multiple cases reporting positive alpha-fetoprotein (AFP) expression in these tumors [ 15 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature

et al. 2019

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BackgroundNuclear protein in testis midline carcinoma is a rare, highly metastatic undifferentiated carcinoma that typically arises in midline structures and is characterized by having a fusion involving the nuclear protein in testis, NUT, gene. Nuclear protein in testis midline carcinoma has been identified in patients of all ages and is often initially misdiagnosed due to the rapid timeline of symptom onset.Case presentationHere we report the case of a 47-year-old Caucasian woman with a nuclear protein in testis midline carcinoma that was initially mistaken for a sinus infection. After symptom progression while on an aggressive antibiotic regimen, the source of her symptoms was correctly identified as a sella mass. Comprehensive analysis of the tumor was performed, and standard cytogenetic analysis identified a translocation of 15q and 19p. Further testing identified a NUT–BRD4 fusion and confirmed the diagnosis of nuclear protein in testis midline carcinoma. Despite definitive diagnosis and surgical, radiation, and, ultimately, systemic therapy, she progressed rapidly, developing widespread metastases, and ultimately died from the disease 5 months after diagnosis.ConclusionsBased on this and other previous reports, aggressive therapy should be initiated once nuclear protein in testis midline carcinoma is diagnosed and close surveillance employed in an attempt to prevent and/or recognize metastases as early as possible. Aggressive therapy has shown little efficacy such that the average overall survival for patients with nuclear protein in testis midline carcinoma is very short, often less than 6 months. Thus, early enrollment into clinical trials testing novel therapies for the treatment of nuclear protein in testis midline carcinoma should be considered. Finally, additional reports of nuclear protein in testis midline carcinoma are needed to fully characterize this rare and highly aggressive cancer.

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

Cited by 17 publications

References 18 publications

Multimodality treatment outcome in patients with primary malignant mediastinal germ cell tumor in adults

Multimodality treatment outcome in patients with primary malignant mediastinal germ cell tumor in adults

Diagnosis of NUT carcinoma of lung origin by next-generation sequencing: case report and review of the literature

A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature

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