Patient is a 36 year old nurse, on pre employment health screening found to have large hypo echoic liver lesions in USG abdomen. She gives a history of right upper quadrant pain since 15 days with no radiation of pain, No h/o fever, abdominal distension, vomiting or altered bowel symptoms. Pt is a non diabetic & non hypertensive. Pt is married with no children.

Pt underwent following investigations:
USG abdomen: Presence of a large lobulated mass in right lobe of liver. The details not assessed due to poor echo window. Diag: ? Atypical hemangioma / ? evolving abscess.

MDCT abdomen: Multiple non enhancing hypodense masses in the liver; the one in the right lobe having a large exophytic component, Presence of pre aortic lymphnode, thrombus / invasion of anterior division of right portal vein. To consider possibility of liver metastasis.

Trucut biopsy liver- Features are that of Metastatic Rhabdomyosarcoma (based on IHC)

Immunohistochemistry:
CK - Negative
Vimentin - Focal cytoplasmic positivity
CK7 and CK20 - Negative Synaptophysin - Negative
Chromogranin - Negative
AFP - Negative
LCA - Negative
Desmin - The cells focally show cytoplasmic positivity.
Myf4 - The cells show focal nuclear positivity.

Relevant Blood Investigations:
Hb is 13.7 g/dl with mildly elevated total bilirubin (1.2 mg/dl)
SGOT & SGPT are elevated
AFP & CA 19-9 are normal (3.06 ng/ml & 0.94ng/ml).
CA125 is raised (60.3 U/ml, normal 0-35)
Chromogranin A is high 35 U/L (2-18)

Whole body PET CT imaging was done (SUV expressed in g/ml) –
Large, hypodense, significantly FDG avid, non enhancing mass involving most of right lobe of liver seen (SUV Max 30, size 15.6 X 11cm).
Portal vein is encased by this tumour at porta hepatis.
The spleno portal confluence is normal.
IVC is obstructed below the liver & is collateralizing via azygos / hemiazygos system.
Inferiorly this mass is projecting exophytically out of liver.
There is fat stranding in greater omentum.
The first, second parts of duodenum are compressed & displaced to the left.
Abnormal intense FDG uptake seen in large porta hepatis nodes (SUV Max 23.1).
These nodes are seen encasing & severely narrowing main portal vein.
FDG avid nodal mass is seen involving the celiac & retro pancreatic regions (SUV Max 25.4).
Slightly hyperdense focal mural nodule seen in uterus with abnormal FDG uptake (SUV Max 7.0).
Non FDG avid consolidation in basal segment of right lower lobe of lung.

Conclusion: Large metabolically active liver lesion with multiple FDG avid intra abdominal lymph nodes – Nodal & distant metastsases.
Focal abnormal FDG uptake in uterus - ? Unsuspected primary lesion

Pelvic USG:

Although an uterine biopsy was suggested, as pt not willing & based on HPE findings (Metastatic rhabdomyosarcoma) she has been started on chemotherapy

Brief description of the disease:

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children.
The most common sites are the head and neck (28%), extremities (24%), and genitourinary (GU) tract (18%). Other notable sites include the mediastinum (11%), orbit (7%), and retroperitoneum (6%).
Rhabdomyosarcoma occurs at other sites in less than 3% of patients. The botryoid variant of Embryonal RMS arises in mucosal cavities, such as the bladder, vagina, nasopharynx, and middle ear. Lesions in the extremities are most likely to have an alveolar type of histology.
Metastases are found predominantly in the lungs, bone marrow, bones, lymph nodes, breasts and brain.

This case has many unusual presentations.
1. First being an adult pt & largely asymptomatic although disease is extensive.
2. The assumed primary here is uterus, again an uncommon site.
3. Liver metastases are rare in rhabdomyosarcoma whereas in this pt liver mets are the presenting feature.