Table 1.
No cases | Author (Ref) | Year | Age | Sex | Location | Initial diagnosis | Basis for diagnosis and genetics | Immunohistochemistry | Treatment | Died of Disease (months) |
---|---|---|---|---|---|---|---|---|---|---|
1 | Vargas et al (13) | 2001 | 13 | F | Epiglottis | PDC |
FISH BDR4-NUT Trisomy 8, t(15;19)(q13;p13.1) |
(+):CK | QRT+Surgery (Radical neck dissection). Palliative QT. |
9 |
(−): AFP, CD3, CD20, CD30, CEA, Chromogranin A, Desmin, EMA, HMB-45, LCA, MSA, PLAP, SMA, S-100, EBER-ISH | ||||||||||
2 | Stelow et al (15) | 2008 | 78 | F | Supraglottis | UC |
FISH BRD4-NUT |
*(+): panCK, p63. | QRT+Surgery (Laryngectomy+ neck dissection) | 8 |
*(−): synaptophysin, chromogranin, LCA, CD19, CD30, CD15, S100, HMB45, tyrosinase, ALK, desmin, SMA, EMA, lysozyme, CD43. | ||||||||||
3 | Kundra et al (25) | 2016 | 39 | M | Supraglottis | HGMN | NUT IHC | (+ focal):CK5/6, p40, CAM 5.2, and AE-1/AE-3. | NA | NA |
(−):CD10, CD20, CD43, CD3, CD23, BCL-2, BCL-6, MUM-1, S100, MELAN-1, MART-1, HMB-45, actin, desmin, myogenin, FLI-1, chromogranin, synaptophysin | ||||||||||
4 | Hospital for Sick Children, Toronto, Canada | 2012 | 5 | F | Larynx/ base of tongue | NUT Midline Carcinoma | NUT IHC, fusion unknown | (+) p63, p53 (high expression) 60% loss p27 80–90% loss p21 Increased Mib-1 Uniformly NUT protein positive (−) p16 ISH for EBV and EBER Negative Both T and B cells present with no clear evidence of significant antigen loss in T cells, orlight-chain restricted B cells |
Tracheotomy and induction chemotherapy with HDAC inhibitor followed by bilateral neck dissections and postoperative radiationtherapy. Eventually required total laryngectomy for recurrence. | 7 |
5 | University of Chicago, Chicago, IL | 2014 | 41 | M | Supraglottis | Invasive basaloid SCC |
FISH NUT IHC BRD4-NUT |
NUT | Partial laryngectomy & neck dissection; 6.5 cycles adjuvant QRT | 11 |
6 | Auckland City Hospital, Auckland, New Zealand | 2016 | 17 | M | Supraglottis | NUT midline carcinoma |
FISH NUT IHC BRD4-NUT Karyotype: 47,XY,+8,i(8)(p10),t(15;19)(q14;p13.1)[16]/46,XY[4] |
(+) p63, p40, Ki-67 (high) (+ in 50% of cells) p16 (+ focal) CKAE1/AE3, High Molecular Weight CK, CK56, CD30 (−) - CD56, Synaptophysin, Chromogranin, Calcitonin – S100, MelanA, Sox10 – CD20, CD3, LCA(CD45) – PLAP, CD117, SALL4, OCT ¾, HCG, AFP – TTF1, CK7, CK20, PAX8 – Desmin, myogenin, CD34 EBER ISH was negative. |
Transoral CO2 Laser Microsurgical resection; with staged Bilateral neck dissections (5 days later) – ipsilateral extended radical Neck Dissection and contralateral modified radical neck dissection with pec major flap to ipsilateral neck | AWD |
7 | Portuguese Institute of Oncology Porto, Portugal | 2015 | 47 | M | Larynx/ base of tongue | Squamous cell carcinoma, poorly differentiated | NUT IHC fusion unknown | NUT | Palliative chemotherapy with taxol and carboplatin | 3 months |
PDC: Poorly differentiated carcinoma, UC: Undifferentiated carcinoma, HGMN: High-Grade malignant neoplasm, IHC: Immunohistochemistry, NA: Not available, AWD: Alive with disease, QT: Chemotherapy, QRT: Chemoradiotherapy.