Cancer of unknown primary origin diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: ; Roukoz A. Karam, M.D.[3]

Overview

The diagnosis of cancer of unknown primary origin is made when the following diagnostic criteria are met: tissue biopsy indicating malignancy and all known primary origins of cancer are ruled out.

Diagnostic Study of Choice

Study of choice

There is no single diagnostic study of choice for the diagnosis of cancer of unknown primary.


  • The algorithm below explains the specific situations where certain diagnostic studies are recommended:[5][4]


 
 
 
 
 
 
 
 
 
 
Tumor of unknown primary origin
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
• Full medical history and physical exam
• Basic blood and biochemical analysis
• CT scan of chest, abdomen, and pelvis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Histopathologic examination
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Squamous cell carcinoma
 
 
 
Neuroendocrine carcinoma
 
 
 
Adenocarcinoma and poorly differntiated carcinoma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
• Octreoscan
• Plasma chromogranin A
 
 
 
 
 
 
 
 
 
 
 
Additional tests specific to location of metastasis
 
 
 
 
 
 
 
 
 
Additional tests speciifc to gender
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cervical lymphadenopathy
 
Inguinal lymphadenopathy
 
Bone metastasis
 
 
 
Men
 
Women
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
• Panendoscopy
• CT scan of head and neck
• Diagnostic bilateral tonsillectomy
 
• Complete clinical examination of external genital organs
• Pelvic CT scan or ultrasound
 
• Anoscopy
• Colposcopy (if female)
• Complete clinical examination of head and neck
• Panendoscopy
• Bone scintigraphy
• Xrays of painful areas
 
 
 
• PSA
• αFP
• βHCG
 
• Mammography
• Pelvic ultrasound or CT scan
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Additional tests specific to location of metastasis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Midline and/or mediastinal lymphadenopathy
 
Cervical and/or supraclavicular lymphadenopathy
 
Axillary lymphadenopathy
 
Liver metastasis
 
Lung metastasis
 
Bone metastasis
 
Single metastasis
 
Pleural effusion
 
Peritoneal effusion
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
• Testicular ultrasound
• Chest and abdominal CT scan
 
• Testicular ultrasound
• Head and neck CT scan
• Panendoscopy
• EBV testing (to rule out undifferentiated nasopharyngeal carcinoma)
 
Women:
• Breast ultrasound
• Breast MRI
 
Women:
• αFP assay (if undifferntiated carcinoma)
• Colposcopy
 
Women:
• βHCG
Men:
• Testicular ultrasound
• Chest and abdominal CT scan
 
• Bone scintigraphy
• Xrays of painful areas
 
• Full body CT scan
• Bone scintigraphy
 
• Chest CT scan
 
Women:
• Abdominal and pelvic CT scan

Molecular studies

There is no data to support routine molecular testing for assessment of cancer of unknown primary. In the past, molecular testing was routinely done in an effort to identify the cell or origin.

Diagnostic criteria

There is no single diagnostic study of choice for cancer of unknown primary.

References

  1. Le Chevalier T, Cvitkovic E, Caille P, Harvey J, Contesso G, Spielmann M; et al. (1988). "Early metastatic cancer of unknown primary origin at presentation. A clinical study of 302 consecutive autopsied patients". Arch Intern Med. 148 (9): 2035–9. PMID 3046543.
  2. Briasoulis E, Pavlidis N (1997). "Cancer of Unknown Primary Origin". Oncologist. 2 (3): 142–152. PMID 10388044.
  3. Collado Martín R, García Palomo A, de la Cruz Merino L, Borrega García P, Barón Duarte FJ, Spanish Society for Medical Oncology (2014). "Clinical guideline SEOM: cancer of unknown primary site". Clin Transl Oncol. 16 (12): 1091–7. doi:10.1007/s12094-014-1244-0. PMC 4239766. PMID 25392080.
  4. 4.0 4.1 Bugat R, Bataillard A, Lesimple T, Voigt JJ, Culine S, Lortholary A, Merrouche Y, Ganem G, Kaminsky MC, Negrier S, Perol M, Laforêt C, Bedossa P, Bertrand G, Coindre JM, Fizazi K (2003). "Summary of the Standards, Options and Recommendations for the management of patients with carcinoma of unknown primary site (2002)". Br. J. Cancer. 89 Suppl 1: S59–66. doi:10.1038/sj.bjc.6601085. PMC 2753014. PMID 12915904.
  5. Fizazi K, Greco FA, Pavlidis N, Daugaard G, Oien K, Pentheroudakis G; et al. (2015). "Cancers of unknown primary site: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up". Ann Oncol. 26 Suppl 5: v133–8. doi:10.1093/annonc/mdv305. PMID 26314775.

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