[CIS PIDD] [cis-pidd] FW: Infant- NKT Lymphoma UPDATE

[CIS-PIDD]

I wanted to provide an update to the group on this patient below.  WES revealed a variant of unknown clinical significance in NLRP3 (autosomal dominant, heterozygous, from mother, variant pA67G, c.200 C>G).

I would welcome any further insight or experience from this group as we try to understand genotype and phenotype. Thanks in advance for your expertise and advice.

Kindest regards,
Amy Scurlock

From: Scurlock, Amy M
Sent: Tuesday, March 07, 2017 2:35 PM
To: 'cis-pidd at lists.clinimmsoc.org' <cis-pidd at lists.clinimmsoc.org>
Subject: Infant- NKT Lymphoma

Dear colleagues:

Our team would welcome your thoughts and input regarding a complex case of an infant with new diagnosis of atypical NKT lymphoma.  Specifically, we would welcome suggestions as to whether there is a particular associated immunodeficiency or immune defect that we should be considering.  WES has been sent and is pending.  Case summary is listed below- thanks in advance for your assistance.  Amy

CASE:
3 mo-old Asian female admitted on  1/13/17 for FTT, grossly bloody stools, anemia, and a malar rash (raised, plaques, violaceous/hemorrhagic appearance).   She has been afebrile and has not had any adenopathy or organomegaly.  She has had no other rash besides the malar area.  Multi-specialty work-up was undertaken including upper and lower endoscopy on 1/26 which showed extensive gastric ulceration as well as less ulceration in the sigmoid colon.

Immunology work-up showed the following:
ALC - range 2,000-3400
OXB nl
IgG and M low (112.7 and 19) (felt to be due to protein loss in stool), IgA elevated 62, IgE 13, IgD<0.7
Flow: low NK cells (1%/52) but normal T cells (CD3 80%/4656 with normal CD4, CD8, RA/RO, alpha/beta/gamma/delta) and low normal B cells (6%/314).  Thymus is normal on CT.  SCID newborn screen normal.  EBV negative.

The working diagnosis was initially early-onset IBD (GI team consulted with experts in very early onset IBD-VEO-IBD).  Skin biopsy of worsening malar rash was performed on 2/6/17 and while path was pending  1.5 mg/kg div BID of methylprednisolone was started on 2/9/17 for presumed IBD.  Rash and bloody stools have improved dramatically on steroids though stools continue to be guaiac positive.

Local dermatopathologists signed out skin biopsy as possible T/NK cell lymphoma on 2/17/17 at which time hem/onc was consulted.  We elected to  continue steroids due to clinical improvement at the risk of obscuring diagnostic work-up as she had already been on steroids for 8 days when hem/onc got involved.  Diagnostic work-up for lymphoma included: CT of neck through pelvis on 2/18 was negative for masses or organomegaly.  PET scan on 2/24 was negative but as noted pt had been on steroids for over a week.  CSF negative for abnl cells.  Bone marrow aspirate was negative by morphology and flow.   Re-review of original GI biopsies with new stains led pathology to feel  they were consistent with the lymphomatous process seen in the skin.

GI and skin specimens were sent to Dr. Elaine Jaffe at the NIH for second opinion.  Her report was signed out 3/1/17 as "an atypical NK-cell lymphoproliferation...a neoplastic process cannot be excluded."

Clinically, patient has been stable throughout admission on RA with stable vital signs.  She has been on and off p.o. feeds/TPN due to mild to moderate GI bleeding.   She is gaining weight.  She was continued on 1.5mg/kg/day  until 3/5 when  a slow wean was initiated while awaiting whole genome exome sequencing results (possible results next week).  She is currently primarily managed by Hem-Onc inpatient service with multiple consulting services involved.

Thank you in advance for your thoughts.


Amy M. Scurlock, M.D., F.A.A.P
Associate Professor, Department of Pediatrics
Division of Pediatric Allergy/Immunology
University of Arkansas for Medical Sciences
Arkansas Children's Hospital
13 Children's Way, Slot 512-13
Little Rock, Arkansas 72202
Phone: (501) 364-1060
Fax: (501) 364-3173

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