A 48-Year-Old Male with Cutaneous Metastases of NUT Midline Carcinoma Misdiagnosed as Herpes Zoster

NUT (nuclear protein of the testis) midline carcinoma (NMC) is a rare, poorly differentiated neoplasm with dismal prognosis. Though NMC are often metastatic by the time of presentation, cutaneous metastases have not been well described in the literature. We report a case of NMC in a patient who presented with grouped well-demarcated tender non-ulcerated erythematous nodules on the right mid-back. The lesions were initially diagnosed and treated as herpes zoster. Following failure to improve with antiviral therapy, imaging and skin biopsy revealed that the lesions were in fact cutaneous NUT carcinoma. Although NMC is an uncommon diagnosis, clinicians should be aware that affected patients can develop skin involvement to avoid unnecessary and harmful treatments.

Download Full-text

Case Report and Literature Review: Primary Pulmonary NUT-Midline Carcinoma

Frontiers in Oncology ◽

10.3389/fonc.2021.700781 ◽

2021 ◽

Vol 11 ◽

Author(s):

Yunxiang Zhang ◽

Kai Han ◽

Xiaotong Dong ◽

Qian Hou ◽

Tianbao Li ◽

...

Keyword(s):

Chromosomal Rearrangement ◽

Molecular Mechanisms ◽

Nuclear Protein ◽

Genomic Analysis ◽

The Body ◽

Anatomic Structure ◽

Nut Midline Carcinoma ◽

Molecular Tests ◽

Poorly Differentiated ◽

Nut Carcinoma

Nuclear protein of the testis (NUT) carcinoma is a very rare and aggressive carcinoma characterized by chromosomal rearrangement. NUT-midline carcinoma (NMC) can occur anywhere in the body, but most of the tumors are found in the midline anatomic structure or mediastinum. Pulmonary-originated NMC is extremely rare and often difficult to be distinguished from other poorly differentiated tumors, making the diagnosis awfully challenged in clinical practice. There are less than 100 cases of NUT carcinoma reported so far. In this study, the diagnosis and molecular mechanisms of reported NUT carcinoma cases were reviewed. Furthermore, a case of primary pulmonary NUT-midline carcinoma and its pathological features was reported. The process of pathological identification and genomic analysis for establishing the diagnosis was discussed. We found that NUT carcinoma could be identified by combining CT, H&E staining, immunohistochemistry (IHC), and molecular tests. The development of NUT carcinoma might be associated with mutation of MYC, p63, and MED24 genes and the Wnt, MAPK, and PI3K signaling pathways. Our study provided a detailed molecular mechanistic review on NMC and established a procedure to identify pulmonary NMC.

Download Full-text

Challenging Diagnosis in NUT Carcinoma

International Journal of Surgical Pathology ◽

10.1177/10668969211019532 ◽

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.

Download Full-text

Diffuse Cutaneous Metastases as the Only Sign of Extranodal Tumor Spread in a Patient with Adenocarcinoma of the Colon

ISRN Surgery ◽

10.5402/2011/902971 ◽

2011 ◽

Vol 2011 ◽

pp. 1-3 ◽

Cited By ~ 3

Author(s):

Serenella Civitelli ◽

Barbara Civitelli ◽

Jacopo Martellucci ◽

Gabriello Tanzini

Keyword(s):

Right Colon ◽

Cutaneous Metastases ◽

Tumor Spread ◽

Site Specific ◽

Poorly Differentiated Adenocarcinoma ◽

Anatomical Relationship ◽

Poorly Differentiated ◽

Adenocarcinoma Of The Colon ◽

The Right ◽

A Site

Cutaneous metastases from large bowel cancer are uncommon and are usually associated with organ involvement. Localization of lesions to the skin is mainly attributed to vascular and anatomical relationship, since most of them are seen in the abdominal wall or in a surgical scar. We report a 73-year-old woman in whom metastatic nodules from a poorly differentiated adenocarcinoma of the right colon developed throughout the skin (buttock, trunk, chest wall, arms, and neck) and remained the only sign of extranodal tumor spread until patient's death, seven months later. This unusual behaviour suggests that localization of neoplastic cells to the skin may be a site-specific process, determined by adhesion molecules and/or by growth factors found at that site.

Download Full-text

SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Review of Literature

International Journal of Surgical Pathology ◽

10.1177/1066896919865944 ◽

2019 ◽

Vol 28 (1) ◽

pp. 102-108 ◽

Cited By ~ 1

Author(s):

Brian D. Stewart ◽

Frederic Kaye ◽

Tiago Machuca ◽

Hiren J. Mehta ◽

Tan-Lucien Mohammed ◽

...

Keyword(s):

Genetic Alterations ◽

Care Physician ◽

Smoking History ◽

Review Of Literature ◽

Heavy Smoking ◽

Pulmonary Parenchyma ◽

Poorly Differentiated ◽

The Right ◽

Time Of Presentation ◽

Generation Sequencing

SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with a poor prognosis that is defined by certain genetic alterations in the BAF chromatin remodeling complex, specifically SMARCA4 and SMARCA2. We present a case of a SMARCA4-DTS in a 59 year-old male with a heavy smoking history who was found to have an unexpected right upper lobe lung mass on routine chest radiograph after a visit to his primary care physician. This led to a biopsy with a diagnosis of poorly differentiated carcinoma at an outside institution. The patient was subsequently seen at our facility for surgical intervention. The right upper lobectomy contained a 7.2-cm poorly differentiated malignancy with slightly discohesive cells arranged in sheets and nests, abundant geographic necrosis, and with many areas showing rhabdoid morphology. The tumor was focally reactive for CK7, AE1/3, Cam5.2, and SALL4 and showed scattered reactivity for CD34 and SOX2. There was complete loss of reactivity for both SMARCA4 and SMARCA2. The histology and immunophenotype were all consistent with the diagnosis of a SMARCA4-DTS. Next-generation sequencing showed a frameshift mutation in the SMARCA4 gene and no abnormality with the SMARCA2 gene. Interestingly, this tumor was confined to the pulmonary parenchyma with no invasion of the visceral pleura nor the mediastinum and with no clinically apparent metastases at the time of presentation. This case is presented to add to the cohort of cases described to date and to discuss the immunohistochemical and molecular findings with regard to SMARCA2.

Download Full-text

Thyroid Carcinoma on the Side of the Absent Lobe in a Patient with Thyroid Hemiagenesis

Case Reports in Otolaryngology ◽

10.1155/2017/4592783 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5

Author(s):

Hiroki Sato ◽

Kiyoaki Tsukahara ◽

Ray Motohashi ◽

Midori Wakiya ◽

Hiromi Serizawa ◽

...

Keyword(s):

Thyroid Carcinoma ◽

Papillary Carcinoma ◽

Thyroid Tissue ◽

Needle Aspiration ◽

Left Lobe ◽

Thyroid Hemiagenesis ◽

Poorly Differentiated ◽

Node Metastases ◽

Right Lobe ◽

The Right

Background. Thyroid carcinoma complicated by hemiagenesis is very rare, and previous reports have not described this cancer on the side of the absent lobe. Methods and Results. We report the case of a 64-year-old woman in whom left thyroid hemiagenesis was discovered incidentally during investigations of abnormal sensation during swallowing. A tumorous 1.4 cm lesion was also found on the side of the absent lobe, left of the isthmus. Fine-needle aspiration biopsy revealed class V papillary carcinoma, but no lymph node metastases. Total thyroidectomy was performed for stage cT1bN0M0 carcinoma. Histopathology revealed normal thyroid tissues in the right lobe and isthmus, while the left lobe was absent. The mostly papillary carcinoma was adjacent to the truncated thyroid tissue, with a portion histologically consistent with poorly differentiated carcinoma. Conclusions. All previously reported cases of thyroid cancer complicated by hemiagenesis have represented carcinoma occurring within the present lobe. This case is extremely rare.

Download Full-text

Meat Hook Injury Leading to Brain Abscess: A Rare Occurrence

Indian Journal of Neurotrauma ◽

10.1055/s-0041-1732789 ◽

2021 ◽

Author(s):

Batuk Diyora ◽

Gagan Dhall ◽

Mehool Patel ◽

Mazharkhan Mulla ◽

Nilesh More ◽

...

Keyword(s):

Brain Abscess ◽

Signs And Symptoms ◽

Penetrating Injury ◽

Perilesional Edema ◽

Delayed Complications ◽

The Right ◽

Time Of Presentation ◽

Local Examination ◽

Abscess Wall ◽

Primary Injury

AbstractTransorbital orbitofrontal penetrating injury by a nonmissile object is uncommon. The presentation of this injury varies. This injury can be easily missed during the initial clinical presentation, because the foreign body is sometimes not visible on local examination, the wound on the orbital skin is small, and very subtle signs are present. The patient can present with delayed complications of the primary injury. Our patient was a 33-year-old male who presented with an orbitofrontal injury with a meat hook. He had minor symptoms at the time of presentation, which were overlooked. Three weeks later, he developed signs and symptoms of raised intracranial pressure (ICP). Brain imaging revealed a peripheral rim of contrast-enhancing mass lesion in the right frontal lobe, extending into the right orbit with perilesional edema suggestive of posttraumatic brain abscess. Via right frontal craniotomy, pus was drained out and abscess wall was excised. The patient made good clinical recovery. A higher index of suspicion and sound knowledge of occult penetrating injury patterns is required in the cases of orbital injuries. Appropriate radiological imaging can lead to an earlier and accurate diagnosis, and can prevent its delayed sequela like brain abscess.

Download Full-text

P56-7 A case of Nuclear protein in testis (NUT) midline carcinoma with response to Ewing sarcoma-based chemotherapy regimen

Annals of Oncology ◽

10.1016/j.annonc.2021.05.789 ◽

2021 ◽

Vol 32 ◽

pp. S360

Author(s):

Yuki Nakatani ◽

Yuko Akaisi ◽

Furutama Junko ◽

Asuka Okada ◽

Kohei Akiyoshi ◽

...

Keyword(s):

Ewing Sarcoma ◽

Nuclear Protein ◽

Chemotherapy Regimen ◽

Nut Midline Carcinoma

Download Full-text

LINC-06. OBSERVATION ONLY IN A PATIENT WITH SUSPECTED LOW GRADE GLIOMA. SHOULD NEUROSURGERY ALWAYS BE THE FIRST STEP IN LOW AND MIDDLE INCOME COUNTRIES?

Neuro-Oncology ◽

10.1093/neuonc/noaa222.441 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii379-iii379

Author(s):

Carlos Leal - Cavazos ◽

Jose Arenas-Ruiz ◽

Oscar Vidal-Gutierrez

Keyword(s):

Brain Mri ◽

Internal Capsule ◽

Pediatric Brain Tumor ◽

Clinical History ◽

Low Grade ◽

Large Tumor ◽

Middle Income ◽

Dismal Prognosis ◽

Close Observation ◽

The Right

Abstract BACKGROUND Low grade gliomas (LGGs) are the most frequent pediatric brain tumor and they comprise a variety of histologies. Complete surgery is curative but sometimes its location makes it difficult. Recent publications highlight the excellent long-term outcomes of patients with LGGs with complete and incomplete resected tumors. Current strategies are focused on reducing risks of treatment related sequelae. METHOD We describe a patient with a suspected LGG managed by close observation. We describe the case of a 6 year old female with 5 months history of focal onset seizures. During this time a brain MRI was requested and tumor was evidenced. After “tumor diagnosis” was made family visited a handful of private neurosurgeons with a uniformly dismal prognosis and high risk morbidity from procedures offered. When first seen at our Hospital, the clinical history seemed compatible with a LGG and seizures well controlled with antiepileptic drugs. Neurological examination was completely normal. MRI showed a large tumor (7x5x5 cm) hypointense on T1, hyperintense on T2, without contrast enhancement, involving the right temporal lobe white matter, insula, internal capsule, hipoccampus, thalamus and mesencephalus with middle cerebral artery encasement. Interval imaging was proposed and after 4.5 years since diagnosis the tumor has been stable and patient clinically excellent. CONCLUSION Overall survival in pediatric LGGs is excellent and risk of sequelae should always be part of multidisciplinary team considerations. In centers with significant neurosurgical morbidity, biopsy of large tumors that are compatible with LGG may not be required in selected cases.

Download Full-text

Palpebral Amelanotic Melanomas in F344 Rats

Veterinary Pathology ◽

10.1177/030098589303000309 ◽

1993 ◽

Vol 30 (3) ◽

pp. 280-286 ◽

Cited By ~ 10

Author(s):

K. Yoshitomi ◽

G. A. Boorman

Keyword(s):

Tumor Cells ◽

Electron Microscopic Examination ◽

Ultrastructural Feature ◽

Amelanotic Melanoma ◽

Electron Microscopic ◽

Cell Processes ◽

Poorly Differentiated ◽

The Right ◽

F344 Rats ◽

Left Eyelid

Spontaneous amelanotic melanomas in the eyelids of F344 rats were found in one of 1/926 (0.11 %) male and 5/925 (0.54%) female F344 rats that were used as control and treated animals in five different carcinogenicity studies conducted by the National Toxicology Program (Research Triangle Park, NC). These melanomas were grossly recognized as single, tan or white, well-circumscribed masses of the right or left eyelid. These melanomas primarily occurred in the dermis of the skin of the eyelids and consisted of poorly differentiated spindle cells characteristically arranged in interlacing fascicles. Rarely, epithelioid tumor cells were also observed, and these tumor cells showed a negative histochemical reaction for melanin. The epidermis and dermal–epidermal junction were usually uninvolved. The diagnosis of amelanotic melanoma could only be established by electron microscopic examination. The most striking ultrastructural feature of the tumor cells was a large number of intracytoplasmic premelanosomes (stage II melanosomes without melanin), which nearly filled the cytoplasm of most tumor cells. Giant premelanosomes and melanophagosomes were also seen. The tumor cells did not possess the ultrastructural features characteristic of Schwann cells (thin, long cell processes and pericytoplasmic basal laminae). The histologic and ultrastructural features of these palpebral tumors were similar to those of cutaneous amelanotic melanomas of the pinna in F344 rats.

Download Full-text

METASTASIS OF AN ADENOCARCINOMA OF THE STOMACH TO THE 4TH METACARPAL BONE

Hand Surgery ◽

10.1142/s0218810401000515 ◽

2001 ◽

Vol 06 (02) ◽

pp. 239-242 ◽

Cited By ~ 6

Author(s):

H. C. Chang ◽

K. H. Lew ◽

C. O. Low

Keyword(s):

Metastatic Lesion ◽

Metacarpal Bone ◽

Review Of The Literature ◽

Poorly Differentiated Adenocarcinoma ◽

Poorly Differentiated ◽

The Right

Metastatic tumours of the hand are uncommon. The majority of these tumours affect the phalanges and the primary tumours are usually bronchogenic in origin, with breast and kidney tumours next in frequency. Metastatic gastrointestinal to the hand is rare and usually from the colon. We report a case of poorly differentiated adenocarcinoma of the stomach antrum presenting with a metastatic lesion to the right 4th metacarpal bone. A review of the literature is included.

Download Full-text